The hypermobile type of Ehlers-Danlos syndrome is a heritable genetic disorder that affects the connective tissue and is characterized by hypermobile or “elastic” skin. The diagnosis is based on clinical evaluation and family history, but there are some clues that can aid the clinician to identify this condition.
In addition to joint hypermobility and skin issues, patients may also present with fatigue, chronic pain, cardiovascular issues, bone mass issues, neurologic and spinal issues, psychological issues, and gastrointestinal symptoms. (Syx et al, 2017)
1. Pain: The degree and frequency of pain vary widely from one patient to another, with many patients reporting daily musculoskeletal pain. In some cases, the intensity of pain might correspond to the degree of joint instability, but in other cases, the pain can be neuropathic and not due to musculoskeletal dysfunction.
2. Postural Orthostatic Tachycardia Syndrome: This is an autonomic disorder that causes an increase in heart rate within the first 10 minutes of standing, in the absence of orthostatic hypotension.
3. Neurologic and Spinal Manifestations:
4. Psychological Manifestations: These may include anxiety and depression.
5. Temporomandibular Disorders (TMD): Since hypermobility disorder affects all the joints, the TMJ can be affected. This is why many of these patients may have clicking, crepitation, and permanent locking of the jaw open and closed.
6. Poor Sleep Quality: Many factors can affect the sleep quality in patients with hypermobility. The daily musculoskeletal pain, neuropathic pain, anxiety, and depression are some of these factors. Also, excessive translation of the mandible may be associated with pharyngeal collapse which could be related to sleep-disordered breathing in these patients (Guilleminault et al., 2013).
The management should include 3 main categories: preventive, acute, and chronic. Management of patients with hypermobility syndrome requires a medical team effort, and coordination between many specialists to handle the variety of comorbidities that accompany this condition.
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