Hypermobile EDS; very likely you know someone who has it!

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a complex and often misunderstood genetic disorder affecting connective tissues in the body. Despite its prevalence, many patients struggle to receive accurate diagnoses and appropriate treatment. This article aims to shed light on the specifics of hEDS, its symptoms, associated conditions, and the challenges faced by those affected.

Prevalence and Diagnosis

hEDS is relatively common, though exact prevalence rates are difficult to determine due to underdiagnosis and misdiagnosis. It is the common type and for the most part less serious type of Ehlers-Danlos Syndrome, a group of connective tissue disorders. Many patients report frustration in their journey toward diagnosis, often seeing multiple specialists over several years before receiving an accurate assessment. The medical community's current lack of up-to-date knowledge about hEDS contributes to this diagnostic delay.

Symptoms and Manifestations

hEDS primarily affects the musculoskeletal system but can have widespread implications throughout the body. Common symptoms include:

- Joint Hypermobility: Excessive flexibility in various joints, leading to joint pains.
- Chronic Pain: Persistent pain, particularly in the lower back and neck, often due to the the sacroiliac joint being too mobile and neck pain and headaches frequently caused by increased movement at the cervical/neck C2-3 facet joint.
- Muscle Fatigue and Weakness: some individuals may also possess generalized muscle pain and fatigue.

- Some increased anxiety, brain fog, and generalized fatigue are also commonly associated with hEDS

In addition to musculoskeletal symptoms, hEDS is frequently associated with several other conditions, which can complicate the clinical picture:

- Mast Cell Activation Syndrome (MCAS): A condition where mast cells (Located primarily in the skin and G.I. track) results in the release of too much histamine being released, causing IBS like symptoms, allergic-like reactions, unusual rashes, flushing and itching.
- Autonomic Dysfunction: Issues with the autonomic nervous system, leading to problems such as postural orthostatic tachycardia syndrome (POTS).
- Small Fiber Neuropathy: Damage to the small nerve fibers, resulting in pain, tingling, and numbness.
- Thyroiditis: Inflammation of the thyroid gland, which can affect thyroid function.
- Endometriosis: A painful condition where tissue similar to the lining inside the uterus grows outside the uterus.
- Osteoporosis: Reduced bone density, increasing the risk of fractures.
- Autoimmune Conditions: There is a noted increase in autoimmune issues among hEDS patients, adding another layer of complexity to their health management.

Challenges in Medical Care

One of the most significant challenges faced by individuals with hEDS is the lack of awareness and understanding within the medical community. Many healthcare providers are not familiar with the condition, leading to inadequate or inappropriate treatment. This gap in knowledge can result in patients being dismissed or misdiagnosed with other conditions.

The genetic basis of hEDS is another area of ongoing research, one of which our center is  presently pursuing. While it is known to be a hereditary disorder, the specific genes involved have not yet been conclusively identified. This lack of genetic markers further complicates the diagnostic process.

Moving Forward

Raising awareness about hEDS is crucial for improving the lives of those affected. Patients often have to advocate for themselves, seeking out specialists and educating their healthcare providers about the condition. Increased research funding and medical education are essential to better understand hEDS and develop effective treatments.

In conclusion, hypermobile Ehlers-Danlos Syndrome is a common but under-recognized condition that poses significant challenges to patients and the medical community alike. By fostering greater awareness and advancing research, we can hope to improve diagnosis, treatment, and quality of life for those living with hEDS.