Hemophilia lecture by dr. tariq saeed


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  • Von Willibrands Disease: RARELY REQUIRE PT
    Autosomal dominant and therefore occurs in males and females
    Clinical Features: Excessive bleeding from mucous membranes (nose bleeds, heavy menstrual bleeding, bleeding following dental procedures, cuts)
    Risk of excessive bleeding following child birth, tooth extraction, surgery or trauma
    Note:There are also more rare forms of factor deficiency – factor X and XI.
  • Affected male marries a normal female: none of sons will be affected, all daughters will be carriers
    Female carrier marries normal male: 50% chance sons will be affected and 50% chance daughters will be carriers
  • 70-80% of bleeds are into joints
    Also shoulders and wrists; rarely small joints of the hands, feet, hips, TMJ or spine
    Single joint bleed: prodrome of stiffness and/or pain followed by swelling (effusion) and increased temperature of the skin over the joint.
    Joint held in a position of comfort – loose pack position
    Responds rapidly to replacement of clotting factor; blood resorbs and there should be no residual joint problems.
  • Joint can quickly become a target joint – recurrent bleeds
    Develop a thick boggy synovium (pannus); restriction of range of motion, muscle atrophy (Very common); little or not joint damage on xray
    Treatment: often prophylactic factor replacment
    Synovectomy – radiation, chemical or surgical
  • Children: epiphyses are involved resulting in growth disturbances of long bones.
  • Second most common site of bleeds but less tendency for recurrent bleeds.
    Complications: Nerve compression – median, ulnar or femoral leading to transient or persistent sensory or motor impairment
    If not treated adequately or if there are repeated bleeds into the same area – fibrosis and soft tissue contracture;
    Some danger of compartment syndrome
  • NB: not necessarily a lot of bleeding from minor superficial cuts and abrasions (platelet function is normal)
  • Fresh whole blood: only treatment available prior to early 1950’s. If given within 24 hours of collection – contains all the clotting factors.
    Largely ineffective in providing enough factor because of the large volumes needed . Life saving measure or given prior to unavoidable surgery.
    Plasma Products: discovered in late 1940’s that plasma could be separated from cells and that fresh plasma had higher concentrations of factor than whole blood. Plasma could be given as a fresh product or frozen for later use. Volumes required were still very high – factor levels of 20-25% could be achieved.
    Fresh frozen plasma (FFP) – treatment of choice for both factor VIII and IX deficiency until approx 1964.
    Cryopecipitate: discovered that if plasma is frozen and then thawed most of the factor VIII remains in the sludge; this smaller quantity is then refrozen, stored for later use. Much less volume needed to treat factor VIII deficiency (one doner). Introduction of Cryoprecipitate coincided with beginning of home infusion – patients and families taught how to infuse at home – bleeds treated earlier. Some reduction in the joint damage due to recurrent bleeds.
    Concentrates: both factor VIII and IX concentrates became available in early 1970’s. Obtained by rapid freezing and dehydration of plasma; kept in refrigerator, reconstituted with saline and given by IV. 10,000 to 20,000 doners per batch of concentrate. Rapidly became the treatment of choice in the 1970’s; easier to store and to do home infusion; allowed prophylactic treatment (I.e. prior to a sporting event).
  • PT along with other team members involved in educating family; Young child – parent does infusion; by age 10 – 12 most children can be taught to do this themselves.
    Joints need to be rested in the loose pack position – room for effusion
    Crutches or no weight bearing for lower extremity joint or muscle bleed
    Ice helps with resorption of fluid
    Need to be aware of complications – compartment syndrome or nerve compression in soft tissue bleeds
  • Important to regain ROM and muscle strength after a bleed.
    Generally avoid splinting – except perhaps overnight to stretch soft tissues
  • Maintenance of physical fitness and muscle strength is important to prevent joint bleeds.
    Soccer - ???
    Footwear – good ankle support; high topped sneakers recommended
  • Hemophilia lecture by dr. tariq saeed

    1. 1. HEMOPHILIA DR. TARIQ SAEED Assistant Professor Paediatric Department Holy Family Hospital Rawalpindi
    2. 2. Definition  Hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency) Rare bleeding disorders due to inherited deficiencies of coagulation factors
    3. 3. Types   Haemophilia A (Classic) Factor VIII deficiency Haemophilia B (Christmas Disease) Factor IX deficiency
    4. 4. Hemophilia A & B  clinically similar:  occur in approximately 1 in 5,000 male births  account for 90% of congenital bleeding disorders  Hemophilia A is approximately 5 times more common than B
    5. 5. Etiology    Inherited as a sex linked recessive trait with bleeding manifestations only in males genes which control factor VIII and IX production are located on the x chromosome; if the gene is defective synthesis of these proteins is defective female carriers transmit the abnormal gene
    6. 6. PATHOPHYSIOLOGY  Factors VIII and IX participate in a complex required for the activation of factor X.  After injury, the initial hemostatic event is formation of the platelet plug, together with the generation of the fibrin clot that prevents further hemorrhage. In hemophilia A or B, clot formation is delayed and is not robust.
    7. 7. Disease Severity    severity is dependent on blood levels of functioning factor VIII or IX severity varies markedly between families but is relatively constant among family members in successive generations remains relatively unchanged throughout life
    8. 8. Classification % normal factor level Causes of bleeding Severe < 1% bleeding after trivial injury or spontaneous Moderate 1 - 5% bleeding after minor injury; occasional spontaneous bleeds Mild 6 - 30 % following major trauma, surgical or dental procedures
    9. 9. Clinical Features – Joint Bleeds   Joints (Hemarthrosis)  Knees, ankles and elbows most common sites  begin as the child begins to crawl and walk  many bleeds occur between the ages of 6 and 15 years Single joint bleed: stiffness, swelling, pain, loose pack position
    10. 10. Sub Acute Hemarthrosis     Develops after repeated bleeds into the joint Synovium becomes inflamed Hypertrophy, hyperplasia and increased vascularity of synovial membrane Hemosiderosis: hemoglobin of intra articular blood is degraded and iron deposited into the joint space
    11. 11. Chronic Arthropathy     Progressive destruction of a joint Pannus (inflammed synovium), & enzymes begin to destroy articular cartilage Microfracture and cyst formation in subchondral bone End stage: firbrous joint contracture, and disorganization of articular surfaces
    12. 12. Clinical Features – Muscle Bleeds      Bleeding into muscle or soft tissue Less tendency to recurrent bleeds Sites: iliopsoas, calf, upper arm and forearm, thigh, shoulder area, buttock Symptoms: pain, swelling, muscle spasm Complications: nerve compression, contracture
    13. 13. Other Sites of Hemorrhage     Abdomen GI tract Intracranial bleeds Around vital structures in the neck
    14. 14. LABORATORY FINDINGS AND DIAGNOSIS  Factor VIII or factor IX deficiency leads to prolongation of APTT.  In severe hemophilia, APTT is usually 2–3 times the upper limit of normal.  All other screening tests of with in normal limit.
    15. 15.  The specific assay for factors VIII and IX will confirm the diagnosis of hemophilia.
    16. 16. Management  Replacement of missing clotting factor    Plasma products Cryoprecipitate Concentrates of Factor VIII Factor IX
    17. 17.  Early, appropriate therapy is the hallmark of excellent hemophilia care.  Mild to moderate bleeding, levels of factor VIII or factor IX must be raised to hemostatic levels in the 35–50% range.  For life-threatening or major hemorrhages, the dose should aim to achieve levels of 100% activity.
    18. 18. Role of Desmopressin in Hemoplhilia A  With mild factor VIII hemophilia, the patient's endogenously produced factor VIII can be released by the administration of desmopressin acetate.
    19. 19. Other Medical Treatment      Analgesics (no aspirin) Good dental care Education – life long management Psychological counseling Acute and long term management of musculoskeletal problems
    20. 20. Musculoskeletal Management  Acute Bleeds:     Immediate replacement factor Immobilize joint No weight bearing Immediate medical attention if complications arise
    21. 21. Musculoskeletal Management  After 24 hours:     Continue minimal or no weight bearing for lower extremity bleed Active range of motion; gentle stretching Corrective positioning (splinting ??) Isometric strengthening; progress to isotonic
    22. 22. Musculoskeletal Management      Long term: Repeated musculoskeletal examination (annual or biannual) Measurement of leg length, girth, ROM, strength, gait, function Physiotherapy treatment: based on assessment findings Prophylactic factor replacement  usually provided every 2–3 days to maintain a measurable plasma level of clotting factor (1–2%) when assayed just before the next infusion (trough level).
    23. 23. Education of Patient and Family     Importance of early factor replacement Use of helmet when riding tricycle/bicycle Sports: contact sports discouraged for severe hemophiliacs; swimming, cross country skiing, tennis, golf, baseball, bicycling – generally considered safe Footwear
    24. 24. CHRONIC COMPLICATIONS Long-term complications of hemophilia A and B include  Chronic arthropathy  Development of an inhibitor to either factor VIII or factor IX,  Risk of transfusion-transmitted infectious diseases.