Von Willebrand disease is a genetic bleeding disorder caused by missing or defective von Willebrand factor. It results in easy bruising, excessive bleeding, and heavy periods. There are several types classified by the von Willebrand factor defect. Treatment depends on severity but may include desmopressin, clotting factor concentrates, hormonal treatments, or antifibrinolytics. Pregnancy requires extra precautions due to risks of bleeding and transmission to offspring.
This document summarizes von Willebrand disease, an inherited bleeding disorder caused by decreased levels or function of von Willebrand factor. The main types are type 1, the most common, with low von Willebrand factor levels; type 2 with abnormal von Willebrand factor function; and type 3 where it is absent. Symptoms range from mild to severe bleeding. Diagnosis involves tests of von Willebrand factor antigen, activity, and structure. Treatment focuses on replacing missing clotting factors or stabilizing clots. Complications can include anemia or death from bleeding if not managed.
Von Willebrand Disease is the most common hereditary bleeding disorder; roughly 1 in every 100 people suffers from the disease. People who suffer from VWD have blood that does not clot properly.
Normally when a person is injured and starts to bleed, the von Willebrand factor in the blood attaches to small blood cells called platelets. This helps the platelets stick together to form a clot at the site of the injury and stop bleeding. When a person has VWD, the clot might take longer to form or not form the way it should and bleeding might take longer to stop. This can lead to heavy, hard-to-stop bleeding. Although rare, the bleeding can be severe enough to damage joints or internal organs, or even be life-threatening.
http://www.nlm.nih.gov/medlineplus/plateletdisorders.html#cat1
http://www.cdc.gov/ncbddd/vwd/facts.html
Hemostasis is the process of blood clotting and subsequent dissolution of the clot following tissue repair. It involves 3 main events: 1) vascular constriction, 2) platelet aggregation forming a temporary plug, and 3) fibrin formation creating a stable clot. The clot must later dissolve for normal blood flow to resume. Von Willebrand disease is a bleeding disorder caused by deficient or abnormal von Willebrand factor, which helps platelets bind to collagen. It ranges from mild to severe and is diagnosed based on bleeding history and lab tests of von Willebrand factor and coagulation factors. Treatment depends on severity but may include desmopressin or coagulation factor replacement.
von Willebrand factor (VWF)is a blood glycoprotein involved in hemostasis, specifically, platelet adhesion. It is deficient and/or defective in von Willebrand disease and is involved in many other diseases, including thrombotic thrombocytopenic purpura.
This document summarizes quantitative and qualitative platelet disorders. The most common causes of abnormal bleeding are decreased platelet production, survival, or increased destruction/consumption. Disorders can be congenital or acquired and involve decreased megakaryocyte production, BM infiltration, ineffective thrombopoiesis, or disorders of thrombopoiesis control. Increased platelet destruction can be immunologic due to ITP, drugs, transfusion, or non-immunologic consumption. Functional platelet disorders involve adhesion, aggregation, or secretion defects which may be hereditary or acquired.
Von Willebrand disease is caused by mutations in the von Willebrand factor gene and results in bleeding problems. There are several types of von Willebrand disease characterized by differences in von Willebrand factor amount and function. Treatment depends on disease severity and involves desmopressin, factor replacement therapy, or antifibrinolytics to prevent and control bleeding.
The document describes 3 cases of von Willebrand disease (VWD), with Case 1 having Type I VWD characterized by a partial deficiency of von Willebrand factor (vWF), Case 2 having Type 2N VWD or Normandy VWD characterized by a qualitative defect with normal levels of vWF, and Case 3 having the most severe Type III VWD characterized by a complete deficiency of vWF. VWD is an inherited bleeding disorder caused by defects in vWF that leads to reduced platelet adhesion and coagulation Factor VIII levels. The classification and treatment of the different VWD types is outlined based on the level and functional abnormalities of vWF
Von Willebrand disease is a genetic bleeding disorder caused by missing or defective von Willebrand factor. It results in easy bruising, excessive bleeding, and heavy periods. There are several types classified by the von Willebrand factor defect. Treatment depends on severity but may include desmopressin, clotting factor concentrates, hormonal treatments, or antifibrinolytics. Pregnancy requires extra precautions due to risks of bleeding and transmission to offspring.
This document summarizes von Willebrand disease, an inherited bleeding disorder caused by decreased levels or function of von Willebrand factor. The main types are type 1, the most common, with low von Willebrand factor levels; type 2 with abnormal von Willebrand factor function; and type 3 where it is absent. Symptoms range from mild to severe bleeding. Diagnosis involves tests of von Willebrand factor antigen, activity, and structure. Treatment focuses on replacing missing clotting factors or stabilizing clots. Complications can include anemia or death from bleeding if not managed.
Von Willebrand Disease is the most common hereditary bleeding disorder; roughly 1 in every 100 people suffers from the disease. People who suffer from VWD have blood that does not clot properly.
Normally when a person is injured and starts to bleed, the von Willebrand factor in the blood attaches to small blood cells called platelets. This helps the platelets stick together to form a clot at the site of the injury and stop bleeding. When a person has VWD, the clot might take longer to form or not form the way it should and bleeding might take longer to stop. This can lead to heavy, hard-to-stop bleeding. Although rare, the bleeding can be severe enough to damage joints or internal organs, or even be life-threatening.
http://www.nlm.nih.gov/medlineplus/plateletdisorders.html#cat1
http://www.cdc.gov/ncbddd/vwd/facts.html
Hemostasis is the process of blood clotting and subsequent dissolution of the clot following tissue repair. It involves 3 main events: 1) vascular constriction, 2) platelet aggregation forming a temporary plug, and 3) fibrin formation creating a stable clot. The clot must later dissolve for normal blood flow to resume. Von Willebrand disease is a bleeding disorder caused by deficient or abnormal von Willebrand factor, which helps platelets bind to collagen. It ranges from mild to severe and is diagnosed based on bleeding history and lab tests of von Willebrand factor and coagulation factors. Treatment depends on severity but may include desmopressin or coagulation factor replacement.
von Willebrand factor (VWF)is a blood glycoprotein involved in hemostasis, specifically, platelet adhesion. It is deficient and/or defective in von Willebrand disease and is involved in many other diseases, including thrombotic thrombocytopenic purpura.
This document summarizes quantitative and qualitative platelet disorders. The most common causes of abnormal bleeding are decreased platelet production, survival, or increased destruction/consumption. Disorders can be congenital or acquired and involve decreased megakaryocyte production, BM infiltration, ineffective thrombopoiesis, or disorders of thrombopoiesis control. Increased platelet destruction can be immunologic due to ITP, drugs, transfusion, or non-immunologic consumption. Functional platelet disorders involve adhesion, aggregation, or secretion defects which may be hereditary or acquired.
Von Willebrand disease is caused by mutations in the von Willebrand factor gene and results in bleeding problems. There are several types of von Willebrand disease characterized by differences in von Willebrand factor amount and function. Treatment depends on disease severity and involves desmopressin, factor replacement therapy, or antifibrinolytics to prevent and control bleeding.
The document describes 3 cases of von Willebrand disease (VWD), with Case 1 having Type I VWD characterized by a partial deficiency of von Willebrand factor (vWF), Case 2 having Type 2N VWD or Normandy VWD characterized by a qualitative defect with normal levels of vWF, and Case 3 having the most severe Type III VWD characterized by a complete deficiency of vWF. VWD is an inherited bleeding disorder caused by defects in vWF that leads to reduced platelet adhesion and coagulation Factor VIII levels. The classification and treatment of the different VWD types is outlined based on the level and functional abnormalities of vWF
Chronic myeloid leukemia (CML) is a type of leukemia characterized by the increased and unregulated growth of myeloid cells in the bone marrow. It results from a reciprocal translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, which generates the BCR-ABL fusion gene. This fusion gene encodes for a constitutively active tyrosine kinase that drives the overproduction of white blood cells. CML progresses through chronic, accelerated and blast crisis phases and can be diagnosed by blood and bone marrow tests and identification of the Philadelphia chromosome. Treatment involves tyrosine kinase inhibitors like imatinib, dasatinib or nilotinib, stem cell transplant, or other drugs and monitoring response based on blood counts
This document discusses three cases of von Willebrand disease (VWD) and provides details on evaluating and diagnosing the condition.
Case 1 is an 18-year-old woman with easy bruising and heavy menses, who has type 1 VWD. Case 2 is a 32-year-old pregnant woman with a family history of bleeding, who has type IIN (VWD Normandy). Case 3 is a 55-year-old woman with life-long severe bleeding who has type 3 VWD.
The document then provides in-depth information on VWD classification, laboratory evaluation, clinical presentation, treatment options including DDAVP and Humate-P, and modifiers like blood type and comor
This document discusses megaloblastic anemia, its causes, symptoms, and treatments. It is characterized by abnormally large red blood cells due to a deficiency in vitamin B12 or folic acid, which is needed for DNA synthesis. The deficiencies can result from inadequate intake, malabsorption, or increased demand. Treatments include injections or supplements of vitamin B12, folic acid, or erythropoietin to stimulate red blood cell production. Adverse reactions are also discussed.
Von Willebrand disease is a bleeding disorder caused by low levels of the clotting protein von Willebrand factor. There are three main types of the disease - type 1 involves a small amount of von Willebrand factor present, type 2 involves normal levels but defects in function/structure, and type 3 involves no von Willebrand factor present. Symptoms include easy bruising, excessive bleeding, and heavy menstrual periods. The disease is usually inherited and testing involves bleeding time, factor VIII levels, and von Willebrand factor specific tests. Treatment focuses on avoiding aspirin/NSAIDs and using drugs like DDAVP or clotting factor replacements.
Autoimmune hemolytic anemia (or autoimmune haemolytic anaemia; AIHA) occurs when antibodies directed against the person's own red blood cells (RBCs) cause them to burst (lyse), leading to insufficient plasma concentration.
Thrombocytopaenia, or low platelet count, can be caused by decreased platelet production or increased platelet destruction. Causes of decreased production include bone marrow diseases and medications. Increased destruction can be due to immune-mediated causes like Idiopathic Thrombocytopenic Purpura (ITP) or non-immune causes like disseminated intravascular coagulation. ITP is caused by autoantibodies that bind to and destroy platelets, and presents with mild bleeding and a normal bone marrow with increased megakaryocytes. Thrombocytopaenia is diagnosed based on blood counts, smear, and ruling out other potential causes through testing and history. Treatment depends on severity but
Hemolytic anemia is characterized by accelerated red blood cell destruction and vigorous blood regeneration. It can be classified as intrinsic or extrinsic, congenital or acquired. The site of red blood cell destruction can be intravascular or extravascular. Common causes of hemolytic anemia include hereditary spherocytosis, thalassemias, sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, paroxysmal nocturnal hemoglobinuria, and immune-mediated hemolytic anemia. Evaluation of hemolytic anemia involves determining whether the anemia is hemolytic, the site of red blood cell destruction, the etiology, and severity through blood smears, reticulocyte counts, LDH and
This document discusses neutrophilia, which is an increased number of neutrophils in the blood. Neutrophils are a type of white blood cell that helps fight infections. Neutrophilia can be caused by infections, inflammation, smoking, stress, and other factors. Symptoms may include bleeding, low body temperature, and respiratory issues. The absolute neutrophil count is used to define neutrophilia as greater than 8,000 cells per cubic mm. Treatment involves identifying the underlying cause, bone marrow testing, medication changes, and lifestyle modifications to support the immune system.
This document discusses coagulation disorders and provides information on hemophilia A, hemophilia B, and disseminated intravascular coagulation (DIC). It notes that hemophilia A is an X-linked bleeding disorder caused by a deficiency in coagulation factor VIII, while hemophilia B is caused by a deficiency in factor IX. Von Willebrand disease is described as the most common inherited bleeding disorder involving a quantitative or qualitative abnormality of von Willebrand factor. DIC is defined as an acquired syndrome characterized by systemic intravascular coagulation that can lead to thrombosis and bleeding complications.
This document discusses bleeding and thrombotic disorders. It provides information on hemostasis, mechanisms of bleeding, key aspects of diagnosis such as history and clinical characteristics. It covers laboratory testing including platelet count, bleeding time, platelet function assay, prothrombin time, activated partial thromboplastin time, thrombin time and tests for fibrinolysis. It also discusses hereditary and acquired causes of bleeding disorders and provides details on specific conditions like hemophilia, von Willebrand disease and treatments.
This document discusses coagulopathy, which refers to medical disorders involving abnormal blood clotting due to deficiencies or issues with platelets, clotting factors, or the fibrinolytic system. It defines various bleeding disorders and coagulation tests. Specific conditions covered include immune thrombocytopenic purpura (ITP), von Willebrand disease, hemophilia A/B, and disseminated intravascular coagulation (DIC). Treatment involves replacing the deficient clotting factor, managing underlying causes, or administering medications depending on the condition causing the coagulopathy. Complications can include excessive bleeding, joint damage, and transmission of infections.
Von Willebrand disease (VWD) is the most common inherited bleeding disorder, caused by mutations resulting in decreased or impaired von Willebrand factor (VWF). VWF promotes clotting by forming bridges between platelets and injured endothelium, and between platelets. It also carries and protects factor VIII. VWD is classified into three main types - type I is most common due to VWF deficiency; type II involves functional defects; type III is most severe with very low VWF. Treatment involves desmopressin, VWF replacement, or factor VIII depending on type and severity of bleeding. Careful management is needed around surgery, delivery, and circumcision.
Thrombocytopenia can be classified as quantitative (reduced platelet count) or qualitative (platelet function defects). Idiopathic thrombocytopenic purpura (ITP) is an immune-mediated disorder causing reduced platelet counts. It typically presents with purpura and petechiae. Diagnosis involves isolated thrombocytopenia with normal or increased megakaryocytes on bone marrow exam and platelet autoantibodies. Treatment involves corticosteroids, splenectomy, or IVIG. Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy with a classic pentad of signs: microangiopathic hemolytic anemia, thromb
1. Coagulation disorders are caused by deficiencies in clotting factors that lead to defects in normal clot formation. They can be hereditary or acquired.
2. Hereditary disorders include hemophilia A and B which are sex-linked deficiencies in factors VIII and IX respectively, and von Willebrand disease which is an autosomal disorder involving a defect in von Willebrand factor.
3. Acquired disorders involve deficiencies in multiple clotting factors and can result from vitamin K deficiency, liver disease, fibrinolytic defects, or disseminated intravascular coagulation (DIC). DIC occurs as a complication of other systemic illnesses.
Hemophilia A is the most common form of hemophilia, caused by reduced levels or activity of coagulation factor VIII. This leads to prolonged and unstable clot formation when bleeding occurs. Symptoms can range from bleeding after circumcision or venipuncture in infants to spontaneous bleeding in joints in older patients. Diagnosis involves tests that show prolonged activated partial thromboplastin time and low factor VIII levels. Treatment replaces the missing clotting factor, with severity and location of bleeding determining dosage. Preventative treatment and education on self-administered factor replacement can help manage symptoms.
Acute myeloid leukemia (AML) is a cancer of the blood and bone marrow characterized by excessive proliferation of immature myeloid cells. It has several subtypes based on genetic abnormalities. Treatment involves chemotherapy to induce remission, often followed by additional chemotherapy or stem cell transplant depending on risk factors like age and genetics. Prognosis depends on factors like specific genetic mutations and how long remission lasts.
Anemia of chronic disease (ACD), also known as anemia of inflammation, is a common type of anemia associated with chronic infections, inflammatory disorders, and some cancers. It is characterized by inadequate red blood cell production, low serum iron levels, and low iron binding capacity. The anemia is usually mild to moderate in severity. Treatment involves addressing the underlying chronic condition causing the inflammation.
This document discusses various disorders of coagulation and hemostasis. It describes the normal physiologic mechanisms of hemostasis, coagulation pathways, and fibrinolysis. It then discusses several specific bleeding disorders including von Willebrand disease, hemophilia, disseminated intravascular coagulation (DIC), thrombotic thrombocytopenic purpura (TTP), immune thrombocytopenic purpura (ITP), and qualitative platelet defects. Laboratory tests used to evaluate coagulation and bleeding disorders are also outlined.
Haemolytic anaemias are a group of anemias caused by the premature breakdown of red blood cells in the bloodstream or spleen. There are two main types - intrinsic defects that cause red blood cell damage from within, such as hereditary spherocytosis, and extrinsic defects that cause damage from outside factors like immune mediated hemolysis. Symptoms include anemia, jaundice, splenomegaly and gallstones. Laboratory tests show signs of increased red blood cell breakdown like elevated bilirubin and LDH, as well as signs of the bone marrow attempting to compensate with reticulocytosis and nucleated red blood cells. Intravascular hemolysis specifically causes hemoglobinemia,
Von Willebrand disease is a bleeding disorder caused by deficient or abnormal levels of von Willebrand factor, a protein that helps platelets stick to damaged blood vessels. There are three main types - type 1 is the most common and mildest form with low von Willebrand factor levels, type 2 involves defects that impair the function of von Willebrand factor, and type 3 is the most severe form with little to no von Willebrand factor. Treatment depends on the type and severity but may include desmopressin, blood factor replacements, contraceptives, or medications to stabilize clots.
Von Willebrand disease is the most common inherited bleeding disorder in humans. It results from a deficiency or abnormality of von Willebrand factor, a protein required for normal clotting. There are several types of von Willebrand disease classified based on the genetic mutation and severity of symptoms. Type 1 is the most common and usually causes mild symptoms like nosebleeds, while Type 3 is the most severe form and can result in life-threatening bleeding. The condition is diagnosed through blood tests measuring von Willebrand factor levels and activity. Treatment depends on the type but may include the drug Desmopressin to increase von Willebrand factor levels for minor procedures.
Chronic myeloid leukemia (CML) is a type of leukemia characterized by the increased and unregulated growth of myeloid cells in the bone marrow. It results from a reciprocal translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, which generates the BCR-ABL fusion gene. This fusion gene encodes for a constitutively active tyrosine kinase that drives the overproduction of white blood cells. CML progresses through chronic, accelerated and blast crisis phases and can be diagnosed by blood and bone marrow tests and identification of the Philadelphia chromosome. Treatment involves tyrosine kinase inhibitors like imatinib, dasatinib or nilotinib, stem cell transplant, or other drugs and monitoring response based on blood counts
This document discusses three cases of von Willebrand disease (VWD) and provides details on evaluating and diagnosing the condition.
Case 1 is an 18-year-old woman with easy bruising and heavy menses, who has type 1 VWD. Case 2 is a 32-year-old pregnant woman with a family history of bleeding, who has type IIN (VWD Normandy). Case 3 is a 55-year-old woman with life-long severe bleeding who has type 3 VWD.
The document then provides in-depth information on VWD classification, laboratory evaluation, clinical presentation, treatment options including DDAVP and Humate-P, and modifiers like blood type and comor
This document discusses megaloblastic anemia, its causes, symptoms, and treatments. It is characterized by abnormally large red blood cells due to a deficiency in vitamin B12 or folic acid, which is needed for DNA synthesis. The deficiencies can result from inadequate intake, malabsorption, or increased demand. Treatments include injections or supplements of vitamin B12, folic acid, or erythropoietin to stimulate red blood cell production. Adverse reactions are also discussed.
Von Willebrand disease is a bleeding disorder caused by low levels of the clotting protein von Willebrand factor. There are three main types of the disease - type 1 involves a small amount of von Willebrand factor present, type 2 involves normal levels but defects in function/structure, and type 3 involves no von Willebrand factor present. Symptoms include easy bruising, excessive bleeding, and heavy menstrual periods. The disease is usually inherited and testing involves bleeding time, factor VIII levels, and von Willebrand factor specific tests. Treatment focuses on avoiding aspirin/NSAIDs and using drugs like DDAVP or clotting factor replacements.
Autoimmune hemolytic anemia (or autoimmune haemolytic anaemia; AIHA) occurs when antibodies directed against the person's own red blood cells (RBCs) cause them to burst (lyse), leading to insufficient plasma concentration.
Thrombocytopaenia, or low platelet count, can be caused by decreased platelet production or increased platelet destruction. Causes of decreased production include bone marrow diseases and medications. Increased destruction can be due to immune-mediated causes like Idiopathic Thrombocytopenic Purpura (ITP) or non-immune causes like disseminated intravascular coagulation. ITP is caused by autoantibodies that bind to and destroy platelets, and presents with mild bleeding and a normal bone marrow with increased megakaryocytes. Thrombocytopaenia is diagnosed based on blood counts, smear, and ruling out other potential causes through testing and history. Treatment depends on severity but
Hemolytic anemia is characterized by accelerated red blood cell destruction and vigorous blood regeneration. It can be classified as intrinsic or extrinsic, congenital or acquired. The site of red blood cell destruction can be intravascular or extravascular. Common causes of hemolytic anemia include hereditary spherocytosis, thalassemias, sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, paroxysmal nocturnal hemoglobinuria, and immune-mediated hemolytic anemia. Evaluation of hemolytic anemia involves determining whether the anemia is hemolytic, the site of red blood cell destruction, the etiology, and severity through blood smears, reticulocyte counts, LDH and
This document discusses neutrophilia, which is an increased number of neutrophils in the blood. Neutrophils are a type of white blood cell that helps fight infections. Neutrophilia can be caused by infections, inflammation, smoking, stress, and other factors. Symptoms may include bleeding, low body temperature, and respiratory issues. The absolute neutrophil count is used to define neutrophilia as greater than 8,000 cells per cubic mm. Treatment involves identifying the underlying cause, bone marrow testing, medication changes, and lifestyle modifications to support the immune system.
This document discusses coagulation disorders and provides information on hemophilia A, hemophilia B, and disseminated intravascular coagulation (DIC). It notes that hemophilia A is an X-linked bleeding disorder caused by a deficiency in coagulation factor VIII, while hemophilia B is caused by a deficiency in factor IX. Von Willebrand disease is described as the most common inherited bleeding disorder involving a quantitative or qualitative abnormality of von Willebrand factor. DIC is defined as an acquired syndrome characterized by systemic intravascular coagulation that can lead to thrombosis and bleeding complications.
This document discusses bleeding and thrombotic disorders. It provides information on hemostasis, mechanisms of bleeding, key aspects of diagnosis such as history and clinical characteristics. It covers laboratory testing including platelet count, bleeding time, platelet function assay, prothrombin time, activated partial thromboplastin time, thrombin time and tests for fibrinolysis. It also discusses hereditary and acquired causes of bleeding disorders and provides details on specific conditions like hemophilia, von Willebrand disease and treatments.
This document discusses coagulopathy, which refers to medical disorders involving abnormal blood clotting due to deficiencies or issues with platelets, clotting factors, or the fibrinolytic system. It defines various bleeding disorders and coagulation tests. Specific conditions covered include immune thrombocytopenic purpura (ITP), von Willebrand disease, hemophilia A/B, and disseminated intravascular coagulation (DIC). Treatment involves replacing the deficient clotting factor, managing underlying causes, or administering medications depending on the condition causing the coagulopathy. Complications can include excessive bleeding, joint damage, and transmission of infections.
Von Willebrand disease (VWD) is the most common inherited bleeding disorder, caused by mutations resulting in decreased or impaired von Willebrand factor (VWF). VWF promotes clotting by forming bridges between platelets and injured endothelium, and between platelets. It also carries and protects factor VIII. VWD is classified into three main types - type I is most common due to VWF deficiency; type II involves functional defects; type III is most severe with very low VWF. Treatment involves desmopressin, VWF replacement, or factor VIII depending on type and severity of bleeding. Careful management is needed around surgery, delivery, and circumcision.
Thrombocytopenia can be classified as quantitative (reduced platelet count) or qualitative (platelet function defects). Idiopathic thrombocytopenic purpura (ITP) is an immune-mediated disorder causing reduced platelet counts. It typically presents with purpura and petechiae. Diagnosis involves isolated thrombocytopenia with normal or increased megakaryocytes on bone marrow exam and platelet autoantibodies. Treatment involves corticosteroids, splenectomy, or IVIG. Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy with a classic pentad of signs: microangiopathic hemolytic anemia, thromb
1. Coagulation disorders are caused by deficiencies in clotting factors that lead to defects in normal clot formation. They can be hereditary or acquired.
2. Hereditary disorders include hemophilia A and B which are sex-linked deficiencies in factors VIII and IX respectively, and von Willebrand disease which is an autosomal disorder involving a defect in von Willebrand factor.
3. Acquired disorders involve deficiencies in multiple clotting factors and can result from vitamin K deficiency, liver disease, fibrinolytic defects, or disseminated intravascular coagulation (DIC). DIC occurs as a complication of other systemic illnesses.
Hemophilia A is the most common form of hemophilia, caused by reduced levels or activity of coagulation factor VIII. This leads to prolonged and unstable clot formation when bleeding occurs. Symptoms can range from bleeding after circumcision or venipuncture in infants to spontaneous bleeding in joints in older patients. Diagnosis involves tests that show prolonged activated partial thromboplastin time and low factor VIII levels. Treatment replaces the missing clotting factor, with severity and location of bleeding determining dosage. Preventative treatment and education on self-administered factor replacement can help manage symptoms.
Acute myeloid leukemia (AML) is a cancer of the blood and bone marrow characterized by excessive proliferation of immature myeloid cells. It has several subtypes based on genetic abnormalities. Treatment involves chemotherapy to induce remission, often followed by additional chemotherapy or stem cell transplant depending on risk factors like age and genetics. Prognosis depends on factors like specific genetic mutations and how long remission lasts.
Anemia of chronic disease (ACD), also known as anemia of inflammation, is a common type of anemia associated with chronic infections, inflammatory disorders, and some cancers. It is characterized by inadequate red blood cell production, low serum iron levels, and low iron binding capacity. The anemia is usually mild to moderate in severity. Treatment involves addressing the underlying chronic condition causing the inflammation.
This document discusses various disorders of coagulation and hemostasis. It describes the normal physiologic mechanisms of hemostasis, coagulation pathways, and fibrinolysis. It then discusses several specific bleeding disorders including von Willebrand disease, hemophilia, disseminated intravascular coagulation (DIC), thrombotic thrombocytopenic purpura (TTP), immune thrombocytopenic purpura (ITP), and qualitative platelet defects. Laboratory tests used to evaluate coagulation and bleeding disorders are also outlined.
Haemolytic anaemias are a group of anemias caused by the premature breakdown of red blood cells in the bloodstream or spleen. There are two main types - intrinsic defects that cause red blood cell damage from within, such as hereditary spherocytosis, and extrinsic defects that cause damage from outside factors like immune mediated hemolysis. Symptoms include anemia, jaundice, splenomegaly and gallstones. Laboratory tests show signs of increased red blood cell breakdown like elevated bilirubin and LDH, as well as signs of the bone marrow attempting to compensate with reticulocytosis and nucleated red blood cells. Intravascular hemolysis specifically causes hemoglobinemia,
Von Willebrand disease is a bleeding disorder caused by deficient or abnormal levels of von Willebrand factor, a protein that helps platelets stick to damaged blood vessels. There are three main types - type 1 is the most common and mildest form with low von Willebrand factor levels, type 2 involves defects that impair the function of von Willebrand factor, and type 3 is the most severe form with little to no von Willebrand factor. Treatment depends on the type and severity but may include desmopressin, blood factor replacements, contraceptives, or medications to stabilize clots.
Von Willebrand disease is the most common inherited bleeding disorder in humans. It results from a deficiency or abnormality of von Willebrand factor, a protein required for normal clotting. There are several types of von Willebrand disease classified based on the genetic mutation and severity of symptoms. Type 1 is the most common and usually causes mild symptoms like nosebleeds, while Type 3 is the most severe form and can result in life-threatening bleeding. The condition is diagnosed through blood tests measuring von Willebrand factor levels and activity. Treatment depends on the type but may include the drug Desmopressin to increase von Willebrand factor levels for minor procedures.
A newborn boy was experiencing nosebleeds, blood in his urine, and easy bruising. Initial tests were normal except for slightly viscous blood. A doctor suspected von Willebrand disease (VWD) and tested for the von Willebrand factor (VWF). The VWF test was negative, indicating a defect in the VWF protein. VWD is caused by defects in the VWF protein, which is important for platelet binding and clotting. It affects up to 1% of the population and treatment involves drugs like desmopressin to stimulate VWF release.
This document discusses three cases of von Willebrand disease (VWD) and provides information about VWD.
Case 1 is described as type 1 VWD based on test results showing reduced but present von Willebrand factor (vWF) antigen and activity. Case 2 is diagnosed as vWD Normandy based on low factor VIII and normal vWF antigen and multimers. Case 3 has complete deficiency of vWF and is diagnosed as type 3 VWD.
The document then provides details on the classification, symptoms, diagnosis, and treatment of VWD, the most common inherited bleeding disorder. It is caused by mutations in vWF resulting in deficient or defective vWF.
This document provides an overview of inherited bleeding disorders, focusing on von Willebrand disease, hemophilia A, and hemophilia B. It classifies inherited bleeding disorders and discusses their prevalence. For von Willebrand disease, it describes the classification, etiology, functions of von Willebrand factor, diagnosis of different types, and management. It also discusses the formation of the primary hemostatic plug. For hemophilia A and B, it covers clinical manifestations, diagnosis, and management, including use of factor replacement therapies.
This document summarizes von Willebrand's disease, the most common inherited bleeding disorder. It is characterized by defective platelet adhesion and aggregation due to reduced or dysfunctional von Willebrand factor. The disorder was first described in 1926 and is caused by mutations in the von Willebrand factor gene. It is classified into types 1, 2 and 3 based on phenotypic characteristics. Type 1 is a quantitative deficiency, type 2 is qualitative with normal or reduced levels but reduced function, and type 3 is the most severe form with an absence of von Willebrand factor. Symptoms vary but often include bruising, bleeding, and heavy menstrual periods. Treatment aims to replace von Willebrand factor levels.
This document summarizes von Willebrand's disease, the most common inherited bleeding disorder. It is characterized by defective platelet adhesion and aggregation due to reduced or dysfunctional von Willebrand factor. The disorder was first described in 1926 and is caused by mutations in the von Willebrand factor gene. It is classified into types 1, 2, and 3 based on von Willebrand factor levels and functionality. The disease primarily causes mucocutaneous bleeding and bleeding after procedures or trauma. Treatment aims to replace von Willebrand factor levels through desmopressin or factor concentrates.
This document summarizes von Willebrand's disease, the most common inherited bleeding disorder. It is characterized by defective platelet adhesion and aggregation due to reduced or dysfunctional von Willebrand factor. The disorder was first described in 1926 and is caused by mutations in the von Willebrand factor gene. It is classified into types 1, 2, and 3 based on von Willebrand factor levels and functionality. The disease primarily causes mucocutaneous bleeding and bleeding after procedures or trauma. Treatment aims to replace von Willebrand factor levels through desmopressin or factor concentrates.
This document discusses various bleeding disorders including hemophilia, von Willebrand disease, and acquired bleeding disorders. It defines hemophilia as a rare genetic bleeding disorder caused by a deficiency in clotting factors such as VIII or IX. Von Willebrand disease is described as the most common inherited bleeding disorder caused by a defect in the von Willebrand factor. The document also outlines different types of acquired bleeding disorders and their causes, including deficiencies in clotting factors due to conditions like liver disease, vitamin K deficiency, or effects of anticoagulant drugs.
Inherited bleeding disorders are usually associated with boys and men. But with medical advances, more and more women have been diagnosed with inherited bleeding disorders such as Hemophilia, von Willebrand Disease, Platelet Function Disorders and factor deficiency disorders. This presentation shares about bleeding disorders affecting women. The first part is a report from the WFH World Congress 2014 held in Melbourne by the presenter, My Girls Blood Ambassador from the Philippines, Andrea Echavez. The second part is about inherited bleeding disorders affecting women.
This document presents a case study of a 11-year old female patient with Von Willebrand Disease Type III who presented with epistaxis and bleeding from the scalp due to a head injury. Von Willebrand Disease is a genetic bleeding disorder caused by a deficiency of the Von Willebrand Factor, a clotting protein. The patient's lab work showed low levels of Von Willebrand Factor and Factor VIII. She was diagnosed with Von Willebrand Disease Type III and treated with tranexamic acid to reduce bleeding and Von Willebrand Factor replacement therapy.
Factor v deficiency is rare
first described in a Norwegian patient in 1943, Identified by Dr. Paul Owren .
Fewer than 200 cases of congenital factor V deficiency have been reported worldwide since 1943.
inheritance of factor V deficiency is autosomal recessive.
usually only needed for severe bleeds or before surgery.
there is no concentrate containing only factor V.
fresh plasma or (FFP) infusions are used to correct the deficiency temporarily and should be given daily during a bleeding episode.
Haemophilias: Medically Compromised Children in DentistryRajesh Bariker
Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
Disorders of sexual developmentppt.pptxwendekassahun
This document provides an overview of disorders of sex development (DSD), formerly known as intersex disorders. It defines DSD as conditions associated with atypical development of internal and external genitalia. DSDs are classified into three main categories: sex chromosome DSDs, 46,XY DSDs, and 46,XX DSDs. Specific conditions discussed in detail include Turner syndrome, Klinefelter syndrome, and congenital adrenal hyperplasia. The document also outlines the genetic and hormonal etiologies of various DSD conditions and their associated clinical features.
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1. Presented by:Presented by:
Lawchak Amjad Zanyar AhmadLawchak Amjad Zanyar Ahmad
November 16, 2017
Von WillebrandVon Willebrand
DiseaseDisease
Supervised by:
Dr. Salar Dr. Adnan 1
2. Topic
• Introduction of von Willebrand diseaseIntroduction of von Willebrand disease
• Types of VWDTypes of VWD
• Symptoms of VWDSymptoms of VWD
• Diagnosis of VWDDiagnosis of VWD
• Treatment of VWDTreatment of VWD
2
3. What is VWD?What is VWD?
• Von Willebrand disease (VWD) is a genetic disorderVon Willebrand disease (VWD) is a genetic disorder
caused by missing or defective Von Willebrand factorcaused by missing or defective Von Willebrand factor
(VWF)(VWF)
• VWD is the most common bleeding disorderVWD is the most common bleeding disorder
• It is carried on chromosome 12 and occurs equally inIt is carried on chromosome 12 and occurs equally in
men and womenmen and women
3
4. Von Willebrand FactorVon Willebrand Factor
Von Willebrand factor (VWF)Von Willebrand factor (VWF): glycoprotein that plays anglycoprotein that plays an
important role in stopping the escape of blood fromimportant role in stopping the escape of blood from
vessels (hemostasis) following vascular injuryvessels (hemostasis) following vascular injury
Von Willebrand factor (vWF) has two major roles:Von Willebrand factor (vWF) has two major roles:
• It facilitates platelet adhesion to damaged endothelium.It facilitates platelet adhesion to damaged endothelium.
• It acts as the carrier protein for FVIII, protecting it fromIt acts as the carrier protein for FVIII, protecting it from
inactivation and clearance.inactivation and clearance.
4
5. Von Willebrand FactorVon Willebrand Factor
• Thyroid hormone and estrogen promote vWFThyroid hormone and estrogen promote vWF
synthesis.synthesis.
• Deficiency of thyroid hormone reduces vWF in bothDeficiency of thyroid hormone reduces vWF in both
normal subjects and patients with vWD.normal subjects and patients with vWD.
• Patients with mild vWD who take birth control pillsPatients with mild vWD who take birth control pills
or estrogen replacement therapy may increase theiror estrogen replacement therapy may increase their
slightly low vWF levels into normal range.slightly low vWF levels into normal range.
5
7. Types of vWDTypes of vWD
There are three main types of VWD A fourth type acquired VWD isThere are three main types of VWD A fourth type acquired VWD is
not hereditary.not hereditary.
Type 1 VWD is found in 60%-80% of patients.Type 1 VWD is found in 60%-80% of patients.
People with type 1 VWD have a quantitative deficiency of VWF.
Levels of VWF in the blood range from 20%-50% of normal. The
symptoms are usually mild.
Type 2 VWD is found in 15%-30% of patientsType 2 VWD is found in 15%-30% of patients..
People with type 2 VWD have a qualitative deficiency in their VWF.
Type 2 is broken down into four subtypes: type 2A, type 2B, type
2M and type 2N, depending on the presence and behavior of
multimers, molecular chains of VWF. Symptoms are mild to
moderate.
7
8. Types of vWDTypes of vWD
Type 3 VWD is found in 5%-10% of patients.Type 3 VWD is found in 5%-10% of patients.
People with type 3 VWD have a quantitative deficiency of VWF.
Symptoms are typically severe, and include spontaneous
bleeding episodes, often into their joints and muscles.
Acquired VWD .Acquired VWD .
This type of VWD in adults results after a diagnosis of an
autoimmune disease, such as lupus, or from heart disease or
some types of cancer. It can also occur after taking certain
medications
8
10. Heredity of von WillebrandHeredity of von Willebrand
diseasedisease
• Von Willebrand disease is caused by a defect onVon Willebrand disease is caused by a defect on
chromosome 12 . The defect could be on thechromosome 12 . The defect could be on the
chromosome 12 from the mother or from fatherchromosome 12 from the mother or from father..
• TheThe genegene forfor von Willebrand factorvon Willebrand factor is on one ofis on one of
thethe autosomesautosomes,, chromosomechromosome 12. Since it is not on the12. Since it is not on the
sex chromosome, it occurs equally in men and women.sex chromosome, it occurs equally in men and women.
10
11. Heredity of von WillebrandHeredity of von Willebrand
diseasedisease
11
12. Symptoms of Von WillebrandSymptoms of Von Willebrand
DiseaseDisease
– Common symptoms of VWD are:
• easy bruising
• bleeding from nose and gums
• prolonged bleeding from skin wound
• bleeding from the gums when baby teeth fall
out or after tooth extractions
• heavy or prolonged bleeding during
menstruation, called menorrhagia.
12
14. NOTESNOTES
• Symptoms of VWD can begin at any ageSymptoms of VWD can begin at any age
• The symptoms of VWD vary greatly from personThe symptoms of VWD vary greatly from person
to personto person
• VWD is the most common bleeding disorderVWD is the most common bleeding disorder
• It is carried on chromosome 12It is carried on chromosome 12
• occurs equally in men and womenoccurs equally in men and women
14
15. Diagnosis of vWDDiagnosis of vWD
Because many people with von Willebrand disease haveBecause many people with von Willebrand disease have
mild signs and symptoms, the condition can be difficult tomild signs and symptoms, the condition can be difficult to
diagnose.diagnose.
To find out if a person has von Willebrand disease (VWD),To find out if a person has von Willebrand disease (VWD),
the doctor will ask questions about personal and familythe doctor will ask questions about personal and family
histories of bleeding.histories of bleeding.
The test may include:The test may include:
•Platelet count is normalPlatelet count is normal
•PT and TT are normalPT and TT are normal
•Prolonged PTT and bleeding timeProlonged PTT and bleeding time
15
16. Diagnostic testDiagnostic test
• Specific tests are required to diagnose which bleedingSpecific tests are required to diagnose which bleeding
disorder is there. Often these tests need to be repeateddisorder is there. Often these tests need to be repeated
several times before an accurate diagnosis can beseveral times before an accurate diagnosis can be
made. This is because the levels of clotting factors in themade. This is because the levels of clotting factors in the
blood vary over time as a result of changes the bodyblood vary over time as a result of changes the body
might be reacting to―such as stress, pregnancy, andmight be reacting to―such as stress, pregnancy, and
infections―that can affect the test results.infections―that can affect the test results.
16
17. Diagnostic testDiagnostic test
blood tests to diagnoseblood tests to diagnose vWDvWD include:include:
Factor VIII: C
This measures the amount of factor VIII
clotting activity.
VWF: antigen This measures the amount of von
Willebrand factor.
Ristocetin cofactor activity This measures how well the VWF works.
VWF multimers This examines the structure of the VWF.
Platelet function tests These measure how well the platelets
work.
17
18. TreatmentTreatment
Treatment for von Willebrand disease (VWD) is based on
the type of VWD and how severe it is. The mainstay of
treatment is DDAVP (desmopressin acetate) It stimulates
the release of VWF from cells
Medicines are used to:
– Increase the amount of von Willebrand factor and factor VIII
released into the bloodstream
– Replace von Willebrand factor
– Prevent the breakdown of blood clots
– Control heavy menstrual bleeding in women
18
19. Treatment of Von WillebrandTreatment of Von Willebrand
DiseaseDisease
CryoprecipitateCryoprecipitate
Source of fibrinogen, factor VIII and VWFSource of fibrinogen, factor VIII and VWF
DDAVP (deamino-8-arginive vasopressin)DDAVP (deamino-8-arginive vasopressin)
Increase plasma VWF levels by stimulating secretionIncrease plasma VWF levels by stimulating secretion
from endotheliumfrom endothelium
Duration of response is variableDuration of response is variable
Dosage 0.3Dosage 0.3 μμg/kg q 12hr IVg/kg q 12hr IV
Factor VIII concentrateFactor VIII concentrate
Virally inactivated productVirally inactivated product
19
In the first generation: The grandfather (John) has mild Type 1 VWD and the grandmother (Mary) is unaffected by VWD. In the second generation: There is a 50% chance that each of John and Mary’s children will be born with the VWD gene. The diagram shows one of the two daughters (Ann) and one of the two sons (Peter) inheriting the defective gene. They both have mild Type 1 VWD. In the third and fourth generations: The daughter with VWD (Ann) marries a man who does not have VWD (Charles). Their children have the same 50 % chance of inheriting the disease. In the diagram one daughter (Julia) gets VWD.The son with VWD (Peter) marries a woman (Isabel) who also carries the abnormal chromosome 12. Their children have a 25% chance of being unaffected (Claire), a 50% chance of inheriting the defective gene from one of the parents and thus having mild Type 1 VWD (Helen and David), and a 25% chance of inheriting the defective gene from both parents (Robert) and getting severe Type 3 VWD.