‘Don’t miss this’: Rare types of Ehlers-Danlos syndrome can be life-threatening
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DESTIN, Fla. — Pinpointing rare subtypes of Ehlers-Danlos syndrome is crucial, as the consequences of overlooking them could be deadly, according to a speaker at the Congress of Clinical Rheumatology East.
“It is important to identify these few people because some of these diseases are actually life-threatening,” Anne-Marie Malfait, MD, PhD, professor of medicine at Rush Medical College, in Chicago, told attendees. “We really need to make sure that we don’t miss this.”
According to Malfait, the “No. 1 place” to search for signs of a rare type of Ehlers-Danlos syndrome (EDS) is the skin, which she called “the window to the diagnosis.” Most rare types of EDS involve soft, doughy skin with a “velvety aspect,” she said. Other shared traits include hyperextensibility, atrophic scarring and often “a lot” of hematomas, Malfait added.
Additionally, clinicians should be particularly wary of vascular EDS due to the risk for aneurysms. Arterial ruptures can occur, especially in medium-sized vessels. Also, patients with vascular EDS have “translucent skin, where you can see the veins,” Malfait said.
“People with vascular EDS will also have ruptures in the gastrointestinal tract,” she said. “Different organs can prolapse. There can be fistulas. There can be very severe varicose veins.”
Vascular issues can also occur in other rare EDS types, including kyphoscoliotic EDS and periodontal EDS, Malfait added.
“You always have to be aware of vascular problems in all patients diagnosed with EDS,” she said.
Other red flags for rare EDS subtypes include musculoskeletal disorders, many of them congenital, such as clubfeet, bilaterial hip dislocation and muscle weakness, according to Malfait. Kyphoscoliosis and contractures may be progressive over time, she added.
Malfait emphasized that some types of EDS manifest during childhood, but not all.
“There are types of EDS that can go unnoticed until adulthood and then present for the first time much later,” she said, adding the disease “can be all of a sudden triggered by a trauma.”
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Malfait A. Ehlers Danlos Syndromes: More Than Hypermobility. Presented at The Congress of Clinical Rheumatology East; May 9-12, 2024; Destin, Florida (hybrid meeting).
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