‘Muddled field’ of hypermobility leaves patients with unaddressed, misunderstood pain
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SAN DIEGO — The broad spectrum of hypermobility and connective tissue disorders has proven difficult to define and categorize, leaving many patients in pain, according to a speaker at the Congress of Clinical Rheumatology West.
“The very big elephant in the room in these patients is pain,” Anne Marie Malfait, MD, the George W. Stuppy, MD, chair of arthritis at Rush Medical College, in Chicago, told attendees. “It is largely unaddressed and largely not understood. It effects their quality of life and psychosocial functioning.”
According to Malfait, although hypermobility in the general population can be asymptomatic, syndromic hypermobility may be present in a range of heritable connective tissue disorders.
These syndromes can impact any tissue that connects, supports, protects, binds or separates other tissues and organs. Because they are so complicated and diverse, studying them has proven difficult, Malfait said.
Discussing hypermobility specifically within the context of Ehlers-Danlos syndromes, she added that the latter conditions demonstrate a range of clinical subtypes that may include any number of features, such as soft tissue fragility, blood vessel fragility or musculoskeletal involvement.
“In many of the subtypes there is pain,” Malfait said.
Recurrent joint dislocations may also occur, along with muscle hypotonia and delayed gross motor development; congenital or progressive scoliosis; broad, flat or club feet; or severe hyperlaxity of fingers with swan-neck deformities.
“This is clearly a multisystemic disorder,” Malfait said. “It is really a very wide spectrum of things that can go wrong.”
This spectrum has made hypermobility a “muddled field,” according to Malfait.
“The classification criteria and the definitions are sort of all over the place,” she said.
However, if there is one over-arching concern, it is that many of these patients experience significant and chronic pain, according to Malfait.
“This is a really barren area of research where a lot more has to be done,” she said.
Classification criteria for Ehlers-Danlos Syndromes emerged in 2017, providing clinicians with a baseline from which to operate. Despite the heterogeneity of the conditions, Malfait noted that there are three over-arching criteria rheumatologists should consider: soft and hyperextensible skin, abnormal wound healing and easy bruising, and joint hypermobility.
In addition, rheumatologists are encouraged to familiarize themselves with the nine-point Beighton scale of joint hypermobility, as they used the 2017 criteria.
“Age also has to be taken into account,” Malfait added.
Patients in pre-puberty who score six out of nine on the Beighton scale meet criteria, as well as those between puberty and age 50 years who score five out of nine, and those older than 50 years who score four out of nine.
Beyond the Beighton score, patients must meet two out of three criteria: skin/fascia/connective tissue manifestations, at least one first degree family member independently meeting diagnostic criteria, or a range of musculoskeletal manifestations that are defined in the document.
According to Malfait, patients who meet these criteria are often easily identifiable for clinicians. Meanwhile, many patients with hypermobility do not fall into the syndromic category, largely because they experience minimal or no pain and do not report other significant adverse outcomes, she added.
Of concern for Malfait is that there is a significant population of individuals who fall between the asymptomatic, healthy group and the syndromic group.
“They also have a lot of problems, they also have pain,” she said. “This is a diagnosis that people are trying to create — hypermobility connective disorder. It is symptomatic but not syndromic. It comes with hypermobility but not chronic pain.”
Several adverse outcomes can occur in patients who fall in this middle ground, including gastrointestinal pain, pelvic disorders, headaches and bladder disorders, according to Malfait.
“The window to this is the skin,” she said. “The biggest red flag is in the skin.”
Regarding the diagnostic pathway for any given patient, although clinical and family history, physical exam and ultrasound can be useful, a genetic analysis for molecular confirmation is critical.
“The definitive diagnosis relies on molecular confirmation,” Malfait said.
Management strategies for these patients can vary widely, depending on whether their skin, joints or other organ systems are involved.
“Very often, there is psychological support,” Malfait said, noting that hypermobility events can be triggered by trauma or psychological distress. “The care has to be multidisciplinary.”
Although Malfait acknowledged that Ehlers-Danlos syndromes have evolved from their previous “virtually unknown” status, much more research is necessary to fully understand them.
“There are very few studies out there that address the pain in these people,” she said. “Diagnosis and classification of these people has traditionally been quite chaotic.”
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Malfait AM. Ehlers-Danlos syndromes: more than hypermobility. Presented at the Congress of Clinical Rheumatology West; Oct. 20-23, 2022 (hybrid meeting).
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