Condition Lookup
Sub-Category:
Connective Tissue Disorders
Number of Conditions: 3
Hypermobility Spectrum Disorder
Specialty: Orthopedics and Rheumatology
Category: Rheumatologic Conditions
Sub-category: Connective Tissue Disorders
Symptoms:
joint hypermobility (excessive flexibility in joints); joint pain and instability; frequent sprains or dislocations; muscle fatigue; soft tissue injuries
Root Cause:
A genetic disorder of connective tissue that results in overly flexible joints, with an associated risk of joint pain and instability. The problem lies in the collagen or other components of connective tissue that affect joint stability.
How it's Diagnosed: videos
Clinical evaluation based on the Beighton score (a scale to measure joint hypermobility). Genetic testing in some cases to identify mutations in connective tissue genes.
Treatment:
Physical therapy to strengthen muscles around hypermobile joints. Bracing or splints to stabilize joints. Pain management strategies, including medications and lifestyle changes. Occupational therapy for assistance with daily activities.
Medications:
NSAIDs for pain and inflammation. Muscle relaxants for joint-related muscle spasms. Topical analgesics for localized joint pain relief.
Prevalence:
How common the health condition is within a specific population.
Affects around 5% of the general population, with women being more commonly affected.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of hypermobility. Being female (more common in women). Certain connective tissue disorders (e.g., Ehlers-Danlos syndrome).
Prognosis:
The expected outcome or course of the condition over time.
Chronic condition that may worsen with age if left untreated. Symptoms can be managed with early intervention and physical therapy.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Recurrent joint dislocations or injuries. Chronic.
Ehlers-Danlos Syndrome
Specialty: Genetics
Category: Connective Tissue and Skeletal Disorders
Sub-category: Connective Tissue Disorders
Symptoms:
hypermobile joints; skin that is stretchy, fragile, or easily bruised; chronic pain; frequent joint dislocations; slow wound healing; dental crowding
Root Cause:
A group of genetic disorders affecting the structure, production, or processing of collagen and related connective tissue proteins.
How it's Diagnosed: videos
Clinical evaluation, family history, genetic testing (e.g., COL1A1, COL5A1 mutations depending on the type).
Treatment:
Symptom management through physical therapy, pain control, joint stabilization, and wound care.
Medications:
Pain management may include acetaminophen , NSAIDs (non-steroidal anti-inflammatory drugs), or low-dose tricyclic antidepressants for chronic pain; no specific medication cures the condition.
Prevalence:
How common the health condition is within a specific population.
Estimated 1 in 5,000 individuals; varies by type.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of the disorder; inherited in autosomal dominant or recessive patterns depending on the type.
Prognosis:
The expected outcome or course of the condition over time.
Highly variable; many lead relatively normal lives with symptom management, but some subtypes can be life-threatening.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Joint instability, chronic pain, vascular rupture (in vascular EDS), organ prolapse, delayed wound healing, and significant skin fragility.
Marfan Syndrome
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Connective Tissue Disorders
Symptoms:
tall stature; long limbs; chest wall deformities; lens dislocation; aortic aneurysm; joint hypermobility
Root Cause:
Mutations in the FBN1 gene, affecting fibrillin-1 production and weakening connective tissues.
How it's Diagnosed: videos
Clinical criteria (Ghent nosology), genetic testing, echocardiogram, and ophthalmologic exams.
Treatment:
Regular monitoring, lifestyle modifications, medications, and surgical interventions for severe aortic or skeletal abnormalities.
Medications:
Beta-blockers (e.g., atenolol ) to reduce stress on the aorta and angiotensin receptor blockers (e.g., losartan ) to slow aortic dilation.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 5,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Marfan syndrome, mutations in the FBN1 gene.
Prognosis:
The expected outcome or course of the condition over time.
Lifespan can be normal with proper management; untreated cases risk life-threatening aortic complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Aortic dissection, heart valve issues, vision problems, scoliosis, and joint dislocations.