Summary about Disease
Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT), now referred to as Hypermobile Ehlers-Danlos Syndrome (hEDS), is a heritable connective tissue disorder characterized primarily by joint hypermobility, skin involvement, and widespread pain. Unlike other types of EDS, the genetic cause of hEDS is currently unknown, making diagnosis reliant on clinical criteria. The severity of symptoms can vary widely, impacting quality of life.
Symptoms
Joint Hypermobility: Excessive range of motion in joints, leading to dislocations, subluxations, and joint instability.
Chronic Pain: Widespread pain, including musculoskeletal pain, neuropathic pain, and abdominal pain.
Skin Involvement: Soft, velvety skin; easy bruising; skin hyperextensibility (often mild).
Fatigue: Significant fatigue that can interfere with daily activities.
Gastrointestinal Issues: Irritable bowel syndrome (IBS), gastroesophageal reflux disease (GERD), constipation, diarrhea.
Dysautonomia: Problems with the autonomic nervous system, leading to symptoms like lightheadedness, palpitations, and temperature regulation issues.
Proprioception Issues: Difficulty sensing body position and movement, leading to clumsiness.
Anxiety and Depression: Often associated with chronic pain and limitations.
Causes
The exact genetic cause of hEDS is currently unknown. It is believed to be inherited, but the specific gene or genes involved have not yet been identified. Research is ongoing to uncover the genetic basis.
Medicine Used
There is no specific cure for hEDS, so treatment focuses on managing symptoms. Medications may include:
Pain Relievers: Over-the-counter pain relievers (acetaminophen, NSAIDs), prescription pain medications (opioids used cautiously and sparingly).
Muscle Relaxants: To reduce muscle spasms and pain.
Neuropathic Pain Medications: For nerve pain (e.g., gabapentin, pregabalin).
Medications for Gastrointestinal Issues: Antacids, proton pump inhibitors, anti-diarrheals, or medications for IBS.
Medications for Dysautonomia: Beta-blockers, fludrocortisone, midodrine.
Antidepressants/Anti-anxiety Medications: To manage mood disorders and chronic pain.
Supplements: Some individuals find benefit from supplements like Magnesium, Vitamin D, Chondroitin, and Glucosamine
Is Communicable
No, hEDS is not communicable. It is a genetic disorder, not an infectious disease.
Precautions
Gentle Exercise: Low-impact activities like swimming, walking, and physical therapy to strengthen muscles and improve joint stability.
Joint Protection: Use proper body mechanics, assistive devices (braces, splints), and avoid activities that overstress joints.
Pain Management: Work with a pain specialist to develop a comprehensive pain management plan.
Physical Therapy: Regular physical therapy to improve strength, stability, and range of motion.
Occupational Therapy: To learn strategies for performing daily tasks with less strain on joints.
Avoid High-Impact Activities: These can worsen joint instability and pain.
Maintain a Healthy Lifestyle: Proper nutrition, hydration, and sleep hygiene.
Mental Health Support: Seek counseling or therapy to manage anxiety, depression, and the emotional impact of chronic illness.
How long does an outbreak last?
hEDS is not characterized by "outbreaks." It is a chronic condition with symptoms that may fluctuate in severity over time. Some days or periods may be worse than others, but there is no defined "outbreak" period.
How is it diagnosed?
Diagnosis is primarily clinical, based on the 2017 international diagnostic criteria. There is no single genetic test for hEDS. Diagnosis involves:
Medical History: Detailed assessment of symptoms and family history.
Physical Examination: Evaluation of joint hypermobility using the Beighton score and assessment of other physical features.
Ruling out other EDS types: Genetic testing may be performed to exclude other types of EDS with known genetic mutations.
Timeline of Symptoms
Symptoms often begin in childhood or adolescence.
Early Childhood: May experience frequent joint dislocations, "growing pains," and clumsiness.
Adolescence: Pain may become more persistent and widespread. Fatigue and gastrointestinal issues may develop.
Adulthood: Symptoms can continue to progress or plateau. The severity of symptoms can vary widely.
Important Considerations
Diagnosis is Challenging: Due to the lack of a genetic marker, diagnosis can be difficult, and many individuals may be misdiagnosed or undiagnosed for years.
Variability: Symptoms and severity vary significantly from person to person.
Multidisciplinary Care: Management requires a team approach involving physicians (rheumatologists, pain specialists, gastroenterologists, cardiologists), physical therapists, occupational therapists, and mental health professionals.
Self-Management: Education and self-management strategies are crucial for coping with chronic pain and limitations.
Research is Ongoing: Further research is needed to identify the genetic cause of hEDS and develop more effective treatments.