09:14 AM

What You Should Know About Ehlers-Danlos Syndrome

Medscape features an article written by HSS rheumatologist Karmela Kim Chan, MD, discussing the diagnosis and management of Ehlers-Danlos Syndrome (EDS), a group of heritable disorders of connective tissue resulting in tissue fragility, skin hyperextensibility, and joint hypermobility.

Dr. Chan noted, “One of the defining characteristics of hypermobile EDS is that patients can have chronic widespread pain. Patients with classic EDS and vascular EDS also can have joint hypermobility, but widespread pain is not disease-defining. Widespread pain is also common among patients with non-EDS joint hypermobility. The pathogenesis of the pain is unclear; some unsubstantiated hypotheses include reliance on musculotendinous structures for stability in the hypermobile joint, or that the hypermobile joint may be more susceptible to repetitive use injuries. Pain amplification, akin to that seen in fibromyalgia, may play a role and may explain other functional issues such as chronic gastrointestinal distress.”

Dr. Chan cited, “There is no cure for EDS. The goals of treatment are symptom management and injury prevention. Whether or not the joint hypermobility is syndromic, physical therapy is generally considered the mainstay of treatment, but high-quality evidence is lacking. A handful of small randomized controlled trials have demonstrated that some physical therapy results in better outcomes compared with no intervention at all.”

She continued, “Psychosocial support is key to the management of the patient’s pain. The clinician should offer validation that the pain is legitimate even if poorly understood. Accompanying anxiety and depression can be managed with psychotherapy. Cognitive-behavioral therapy is an effective modality for the management of chronic pain in other contexts. Pharmacologic agents commonly used for chronic pain management, such as tricyclic antidepressants, gabapentinoids, and serotonin-norepinephrine reuptake inhibitors may reduce the degree of pain.” Dr. Chan added, “Patients with vascular EDS, which can be catastrophic, should be made aware of the symptoms of potential complications, including severe abdominal pain (indicating arterial or organ rupture), chest pain (pneumothorax), and vision loss (retinal detachment). A baseline echocardiogram for all EDS patients and magnetic resonance angiography or CT angiography for those with vascular EDS may be helpful, although there is no protocol for ongoing monitoring. Ophthalmic complications can occur in a variety of the EDS syndromes, so regular ophthalmology exams are recommended to check for retinal and scleral fragility.”

Read the full article at Medscape.com.