Ehlers-Danlos syndrome
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Ehlers-Danlos syndrome (EDS) is a connective tissue disease caused by mutations in collagen genes. It affects connective tissues supporting skin, blood vessels, and organs. There are six main types classified by symptoms. EDS causes loose, elastic skin and fragile tissues, resulting in easy bruising and joint dislocations. While prevalence is estimated at 1 in 5,000, many cases may be undiagnosed. Treatment focuses on pain management, physical therapy, and managing complications.
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Ehlers Danlos Syndrome
Ehlers Danlos Syndrome (EDS) is a genetic connective tissue disorder caused by defects in collagen. There are several types of EDS with varying symptoms. The hypermobility type involves loose joints and double-jointedness. Classical EDS affects the skin, causing easy bruising and scarring. The vascular type is the most severe and life-threatening due to risk of organ and blood vessel rupture. While there is no cure for EDS, physical therapy can help strengthen joints to prevent dislocation. Gene therapy may help EDS in the future by replacing or inactivating mutated genes.
Ehlers-Danlos Syndrome & Hypermobility
An introduction to EDS as well as instructions on how to score hypermobility using the Beighton Scale. Presented as part of the University Teaching Practicum requirements at York University in October, 2011.
Ehlers danlos syndrome
Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissues like skin, joints, and blood vessels. People with Ehlers-Danlos syndrome typically have extremely flexible joints and stretchy, fragile skin that is prone to tears and unable to hold stitches. A severe form called vascular Ehlers-Danlos syndrome can cause blood vessels, intestines or the uterus to suddenly rupture, so those with it may want genetic counseling before starting a family due to risks of complications.
Ehlers danlos syndrome(eds)
Ehlers-Danlos syndrome (EDS) is a group of disorders associated with hyper-elasticity and fragility of the skin due to defects in collagen synthesis, secretion, or processing. There are over 10 types of EDS, with types I-IV, VII, and X associated with defects in collagen protein synthesis and types VI and IX associated with defects in collagen processing enzymes. EDS type IV can cause the most life-threatening complications such as spontaneous ruptures of arteries and organs. While there is no cure for EDS, treatment focuses on managing symptoms through physiotherapy, analgesics, and surgery.
Ehlers Danlos Syndrome
Ehlers Danlos Syndrome is a genetic disorder affecting connective tissue. There are several types that affect the skin, joints, and blood vessels in different ways. Type IV is the most severe and life-threatening as it can cause spontaneous rupture of arteries or perforation of internal organs. There is no cure and treatment focuses on preventing complications and reducing risks of surgery or physical trauma.
Ehlers-Danlos syndromes(EDS)
This document describes Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder that affects the skin, joints, and blood vessel walls. It discusses the classification, signs and symptoms, and management of EDS. The patient case involves a 22-year-old female with vascular type EDS who presents with severe abdominal pain. Her treatment includes pain medications, antibiotics, gastric protection, and monitoring for complications related to her condition.
Systemic lupus erythematosus (sle)
Systemic Lupus Erythematosus (SLE) is an autoimmune disease where the immune system mistakenly attacks healthy tissue. It most commonly affects women under age 40 and can involve the skin, joints, kidneys, brain and other organs. Symptoms vary but often include joint pain, rash, and fatigue. There is no cure for SLE but treatment aims to control symptoms, which may include medications like hydroxychloroquine and corticosteroids. Prognosis has improved in recent years though long-term treatment is usually required to manage the disease.
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue in the body. It is caused by a mutation in the gene that controls production of fibrillin, a protein important for connective tissue. Symptoms vary but often involve unusually long limbs, fingers and toes as well as health issues like vision problems, heart problems, and collapsed lungs. Treatment focuses on managing heart, eye and lung issues through medication, surgery and lifestyle changes like exercise and not smoking. Regular screening is important to monitor health and catch any problems early.
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Ehlers Danlos Syndrome
Ehlers Danlos Syndrome (EDS) is a genetic connective tissue disorder caused by defects in collagen. There are several types of EDS with varying symptoms. The hypermobility type involves loose joints and double-jointedness. Classical EDS affects the skin, causing easy bruising and scarring. The vascular type is the most severe and life-threatening due to risk of organ and blood vessel rupture. While there is no cure for EDS, physical therapy can help strengthen joints to prevent dislocation. Gene therapy may help EDS in the future by replacing or inactivating mutated genes.
Ehlers-Danlos Syndrome & Hypermobility
An introduction to EDS as well as instructions on how to score hypermobility using the Beighton Scale. Presented as part of the University Teaching Practicum requirements at York University in October, 2011.
Ehlers danlos syndrome
Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissues like skin, joints, and blood vessels. People with Ehlers-Danlos syndrome typically have extremely flexible joints and stretchy, fragile skin that is prone to tears and unable to hold stitches. A severe form called vascular Ehlers-Danlos syndrome can cause blood vessels, intestines or the uterus to suddenly rupture, so those with it may want genetic counseling before starting a family due to risks of complications.
Ehlers danlos syndrome(eds)
Ehlers-Danlos syndrome (EDS) is a group of disorders associated with hyper-elasticity and fragility of the skin due to defects in collagen synthesis, secretion, or processing. There are over 10 types of EDS, with types I-IV, VII, and X associated with defects in collagen protein synthesis and types VI and IX associated with defects in collagen processing enzymes. EDS type IV can cause the most life-threatening complications such as spontaneous ruptures of arteries and organs. While there is no cure for EDS, treatment focuses on managing symptoms through physiotherapy, analgesics, and surgery.
Ehlers Danlos Syndrome
Ehlers Danlos Syndrome is a genetic disorder affecting connective tissue. There are several types that affect the skin, joints, and blood vessels in different ways. Type IV is the most severe and life-threatening as it can cause spontaneous rupture of arteries or perforation of internal organs. There is no cure and treatment focuses on preventing complications and reducing risks of surgery or physical trauma.
Ehlers-Danlos syndromes(EDS)
This document describes Ehlers-Danlos syndrome (EDS), a hereditary connective tissue disorder that affects the skin, joints, and blood vessel walls. It discusses the classification, signs and symptoms, and management of EDS. The patient case involves a 22-year-old female with vascular type EDS who presents with severe abdominal pain. Her treatment includes pain medications, antibiotics, gastric protection, and monitoring for complications related to her condition.
Systemic lupus erythematosus (sle)
Systemic Lupus Erythematosus (SLE) is an autoimmune disease where the immune system mistakenly attacks healthy tissue. It most commonly affects women under age 40 and can involve the skin, joints, kidneys, brain and other organs. Symptoms vary but often include joint pain, rash, and fatigue. There is no cure for SLE but treatment aims to control symptoms, which may include medications like hydroxychloroquine and corticosteroids. Prognosis has improved in recent years though long-term treatment is usually required to manage the disease.
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue in the body. It is caused by a mutation in the gene that controls production of fibrillin, a protein important for connective tissue. Symptoms vary but often involve unusually long limbs, fingers and toes as well as health issues like vision problems, heart problems, and collapsed lungs. Treatment focuses on managing heart, eye and lung issues through medication, surgery and lifestyle changes like exercise and not smoking. Regular screening is important to monitor health and catch any problems early.
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This patient has systemic sclerosis for 3.5 years with tight skin on hands and face, pain in knees and feet, and morning stiffness. He has multiple medical issues including renal failure and is wheelchair-bound. Examination found tight skin on hands and face. His current management includes physiotherapy, wax, and treatment for his other conditions. Further tests are needed to monitor his systemic sclerosis and complications.
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Ehlers danlos syndrome case.pptx
A 30-year-old female presented with wide atrophic scars, hyper extensible skin, and joint hypermobility. Genetic testing revealed a pathogenic variant in the COL5A2 gene consistent with classical Ehlers-Danlos syndrome. She underwent scar resection surgery and developed a fine line scar after 6 months. Classical Ehlers-Danlos syndrome is caused by mutations affecting type V collagen and is characterized by skin hyper extensibility, joint hypermobility, and easy bruising.
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1) Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by unpredictable exacerbations and remissions affecting multiple organ systems.
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This patient has systemic sclerosis for 3.5 years with tight skin on hands and face, pain in knees and feet, and morning stiffness. He has multiple medical issues including renal failure and is wheelchair-bound. Examination found tight skin on hands and face. His current management includes physiotherapy, wax, and treatment for his other conditions. Further tests are needed to monitor his systemic sclerosis and complications.
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2) Osteoporosis results from an accelerated loss of bone mass due to factors like aging, lack of physical activity, low estrogen levels, poor nutrition, and genetics.
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Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by mutations in genes that produce collagen. Collagen provides strength and elasticity to tissues throughout the body. Over 1.5 million people worldwide have some form of EDS, which is characterized by joint hypermobility, fragile tissues, and other symptoms ranging from easy bruising and tearing of skin to rupturing of blood vessels and organs. EDS has a wide variety of symptoms due to collagen's prevalence in tissues, but it often goes undiagnosed because symptoms may not show on scans and many doctors are unaware of the condition.
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This 23-year-old woman presented with seizures, headaches, weight loss, hair loss, joint pains, and night sweats. On examination, she had a thin scalp with patchy hair loss, numerous lymph nodes, fever, tachycardia, and high blood pressure. Laboratory tests showed anemia, low white blood cell and platelet counts, high sedimentation rate, proteinuria, and red blood cells in her urine. The likely diagnosis is systemic lupus erythematosus (SLE) based on her symptoms and laboratory abnormalities. Further immunological testing including ANA and anti-dsDNA antibodies would help confirm the diagnosis of SLE. She requires admission for treatment and management of her organ-threatening l
Mr Chris O'Callaghan - Disorders of; blood pressure and of connective tissue ...
Mr Chris O'Callaghan - Disorders of; blood pressure and of connective tissue ...Peer Support Network
Emerge Australia Seminar 13th September 2014
Associate Professor Chris O’Callaghan is a clinical pharmacologist and general physician at Austin Health, Heidelberg. A/Prof Chris O’Callaghan heads the Blood Pressure Disorders Clinic at Austin Health which specialises in treating patients who have impaired ability to control blood pressure, which produces many of the symptoms seen in ME/CFS such as faintness, lightheadedness, impaired concentration, ‘anxiety’ type symptoms and palpitations. Conditions that result in impaired blood pressure control include spinal cord injury, disease of the autonomic system, fatigue disorders such as ME/CFS and disorders of connective tissue elasticity such as joint hypermobility syndrome and Ehlers-Danlos Syndrome.
Associate Professor O’Callaghan is the author of many scientific papers and an active researcher of cardiovascular disease.SYSTEMIC CONNECTIVE TISSUE DISORDERS AND MANAGEMENT OF SLE
The document provides an overview of systemic connective tissue disorders and management of systemic lupus erythematosus. It begins with an introduction to systemic connective tissue disorders and their classification. It then discusses the mechanisms and provides examples including Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, Stickler syndrome, Loeys-Dietz syndrome, and rheumatoid arthritis. For each example, it discusses clinical features, diagnosis, and treatment approaches. The document aims to educate about these connective tissue disorders and their management.
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Ehlers danlos
The document discusses the author's experience with Ehlers-Danlos syndrome (EDS), a genetically inherited connective tissue disorder. After years of being misdiagnosed, the author received a definitive diagnosis of EDS in 2006. EDS causes chronic pain, fatigue, and other symptoms. While there is no cure, the author's condition improved after finding a pain doctor who helped manage symptoms. The document also provides information from the Ehlers-Danlos National Foundation, explaining that EDS is caused by defects in collagen that can result in joint hypermobility and tissue fragility.
Elhers danlos
The document discusses the author's experience with Ehlers-Danlos syndrome (EDS), a genetically inherited connective tissue disorder. After years of being misdiagnosed, the author received a definitive diagnosis of EDS in 2006. EDS causes chronic pain, fatigue, and other symptoms, and has no cure. The author's condition deteriorated in her 30s but improved after finding a pain management doctor. The Ehlers-Danlos National Foundation summary explains that EDS is caused by defects in collagen production and affects over 1.5 million people worldwide, causing joint hypermobility and tissue fragility.
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Ehlers-Danlos syndrome
- 2. OVERVIEW • Ehlers-Danlos syndrome (EDS) is a connective tissue disease that affects the connective tissue that supports cones, skin, blood vessel and most other organ tissues. • In 1997 the categories were simplified into 6 categories: • Classical • Hyper mobility • Vascular • Kyphocoliosis • Arthrochalasia • Dermatospraxis • Since '97 there have been recorded cases of other types but they are exceedingly rare and are poorly documented
- 3. CAUSES • The most common cause of EDS is a mutation in the COL5A1 or COL5A2 genes. • Ehlers-Danlos is caused by a mutation to the genes that provide the code for the production of the various types of collagen. • Collagen is the protein that primarily makes up connective tissues. • Depending on the type of mutation it can disrupt or change the production of collagen, reducing the amount of strength of the protein
- 4. INCIDENCE • Connective tissue diseases, as a whole aren't that uncommon. Genetic mutations happen all the time. • What is uncommon is an actual diagnosis of EDS. This gives the sustained illusion that it is much less common than it is. • Reportedly the combined international prevalence is roughly 1:5,000 confirmed cases. So in 5,000 people that don't have EDS or at such a level their symptoms are essentially nonexistent, there is one person with symptoms severe enough to warrant an official diagnosis. • It is hereditary but can affect all groups equally
- 5. SYMPTOMS • Laxity and hyper-mobile joints • Susceptibility of partial or complete dislocations • Chronic joint pain • Unusually loose, thin, elastic skin • Excessively fragile skin, blood vessels, other membranes and tissue • Easily bruised and/or scarred • Some may be congenital, some might manifest in adulthood • Recent studies have shown there is a definitive correlation between connective tissue disorders and migraines as well as immune system issues • Increase risk of stroke and heart attack • Spontaneous blood vessel ruptures
- 6. DIAGNOSIS • Standard diagnosis for Ehlers-Danlos syndrome is the testing of hyper-mobility, elasticity, an echo-cardiogram, and genetic testing.
- 7. TREATMENT • As it is a genetic disorder there is no full cure although there are some therapies available. • Anti-inflammation drugs have been known to help with the pain • Physical and occupational therapy is also available to strengthen muscles and joint stability to reduce risk of dislocation.
- 8. WHY I CHOSE EDS • Two of the specialists I see at the Shepard Center have suggested that I have a connective tissue disorder which may be the cause or a contributor of my migraines. I also have a friend with EDS. I've been meaning to do research on it, as the disease list had a vague "skin" on it I figured, I could do my research and the project in one fell swoop.