Summary about Disease
Joint hypermobility syndrome (JHS), now often referred to as hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD), is a condition characterized by unusually flexible joints. This excessive joint mobility can lead to a variety of musculoskeletal symptoms, including pain, stiffness, and fatigue. The severity of symptoms varies greatly from person to person. It's considered a connective tissue disorder, affecting collagen, the protein that provides structure and support to joints and other tissues.
Symptoms
Joint pain and stiffness
Recurrent joint dislocations or subluxations (partial dislocations)
Fatigue
Muscle pain
Clicking or popping joints
Skin that is soft and stretchy
Easy bruising
Digestive issues (e.g., irritable bowel syndrome)
Postural Orthostatic Tachycardia Syndrome (POTS)
Anxiety and depression
Proprioception (sense of body position) issues
Causes
The exact cause of JHS/hEDS/HSD is not fully understood. It is believed to be multifactorial, involving:
Genetic factors: There's a strong hereditary component, suggesting genes involved in collagen or other connective tissue production play a role. However, the specific genes are largely unknown for hEDS/HSD.
Connective tissue abnormalities: Problems with the structure or function of collagen and other connective tissues contribute to joint instability.
Environmental factors: Lifestyle and environmental factors could potentially play a role in triggering or exacerbating symptoms, but research is ongoing.
Medicine Used
There is no specific cure for JHS/hEDS/HSD, so treatment focuses on managing symptoms and improving quality of life. Common medications include:
Pain relievers: Over-the-counter pain relievers like acetaminophen (Tylenol) and ibuprofen (Advil, Motrin) can help manage mild to moderate pain. Stronger pain medications (e.g., opioids) are sometimes prescribed, but should be used cautiously due to risks of dependence and side effects.
Muscle relaxants: To relieve muscle spasms and pain.
Antidepressants: Some antidepressants can help with pain management and mood disorders often associated with the condition.
Topical Pain Relievers: Creams and gels with ingredients like capsaicin or menthol, which provide localized pain relief.
Other medications: Depending on the individual's symptoms, medications for related conditions like POTS, IBS, or anxiety may be prescribed.
Is Communicable
No, JHS/hEDS/HSD is not communicable. It is not caused by a virus, bacteria, or other infectious agent and cannot be spread from person to person.
Precautions
Gentle exercise: Physical therapy and low-impact exercises like swimming, walking, or yoga can help strengthen muscles around the joints and improve stability. Avoid high-impact activities that could cause injury.
Proper posture: Maintain good posture to minimize strain on joints.
Assistive devices: Use braces, splints, or other assistive devices to support joints and prevent dislocations.
Ergonomics: Optimize your workspace and activities to reduce repetitive movements and strain on joints.
Pacing: Balance activity with rest to avoid overexertion and fatigue.
Awareness of body: Be mindful of your body's limitations and avoid pushing yourself too hard.
Healthy diet: A balanced diet rich in nutrients can support overall health and tissue repair.
Stress management: Practice stress-reducing techniques like meditation or deep breathing.
Sun Protection: Individuals with JHS/EDS may have skin sensitivities and should take extra sun protection measures.
How long does an outbreak last?
JHS/hEDS/HSD is a chronic condition, not an acute outbreak. Symptoms can fluctuate in intensity over time, with periods of increased pain or other issues, but the underlying condition is always present.
How is it diagnosed?
Diagnosis typically involves a physical examination and medical history review by a healthcare professional, such as a rheumatologist or geneticist. The diagnostic criteria used can vary, but the Beighton score (a system for assessing joint hypermobility) is often used in conjunction with other clinical findings. The 2017 international criteria for hEDS are quite strict, and many individuals who previously met criteria for JHS may now be diagnosed with HSD. Genetic testing is not typically helpful in diagnosing hEDS/HSD as the genetic cause(s) are largely unknown. The purpose of genetic testing may be to rule out other connective tissue disorders.
Timeline of Symptoms
Symptoms can begin in childhood or adolescence, and they may worsen over time. Some individuals may experience mild symptoms that do not significantly impact their lives, while others may have more severe and debilitating symptoms. There is no one-size-fits-all timeline. Some may experience a gradual onset of symptoms, while others may have periods of remission and exacerbation.
Important Considerations
Variability: The severity and presentation of JHS/hEDS/HSD vary widely from person to person.
Co-morbidities: JHS/hEDS/HSD is often associated with other conditions, such as POTS, IBS, anxiety, and depression.
Multidisciplinary care: Management often requires a team approach involving doctors, physical therapists, occupational therapists, pain specialists, and mental health professionals.
Self-advocacy: It's important for individuals with JHS/hEDS/HSD to be actively involved in their care and advocate for their needs.
Accurate Diagnosis: It's crucial to receive an accurate diagnosis to rule out other conditions and develop an appropriate treatment plan.
Support Groups: Support groups and online communities can provide valuable information and emotional support.