INDIANAPOLIS—A new report coauthored by an Indiana University School of Medicine faculty member is highlighting difficulties faced by people with hereditary disorders of connective tissue (HDCTs). The report was created by a committee for the National Academies of Sciences, Engineering, and Medicine and was commissioned by the United States Social Security Administration.
“I hope this report will help our patients with disability secondary to HDCTs to navigate the Social Security Administration system and that it will serve as a useful educational tool for providers and patients,” said Clair Francomano, MD, a professor with the Department of Medical and Molecular Genetics.
HDCTs include a variety of rare genetic disorders that predominantly affect connective tissue, which includes the tendons and ligaments that hold joints together. Connective tissue impacts all different organ systems in the body. Some of the most common HDCTs are Marfan syndrome and Ehlers-Danlos syndromes, which are two conditions described in the report. While there are thirteen different types of Ehlers-Danlos syndromes, it’s estimated that about 1 in 5,000 people live with the condition.
Francomano’s research focuses on Ehlers-Danlos syndromes and she has held a number of leadership positions related to these disorders, including Chair of the Medical and Science Board for the Ehlers-Danlos Society and Chair of the Committee on Classical Ehlers-Danlos Syndrome for the International Consortium on the Ehlers-Danlos Syndromes and Related Conditions. Because of her expertise, she was asked to join a committee of medical experts to create the new report.
“There are many patients who apply to social security for disability, but there wasn’t really a cohesive body of literature that supported the presence of disabilities among people with HDCTs,” Francomano said. “This is something the National Academies have done previously for other disorders, so they really helped guide the committee to put together the information in a way that would be most useful to the Social Security Administration."
Francomano said the 368-page report includes six chapters and describes the history of HDCTs, different types of HDCTs and how clinicians diagnose and treat the disorders. The report also discusses impairments and effects on day-to-day functioning that people with these disorders may experience as well as touching on emerging treatments and therapies.
“A lot of people live with chronic pain and have chronic fatigue, which can really impact their ability to function,” Francomano said. “Secondary impairments like these may be the primary cause of disability. For example, a person might be able to live with joint hypermobility without much trouble, but if that joint hypermobility ends up causing chronic pain, or eventually impairs mobility, then that person may become disabled.”
Even though the report was created for the Social Security Administration, Francomano believes health care professionals and families of people with HDCTs will also find it useful, especially because of how difficult it can sometimes be to properly diagnose someone with an HDCT.
“We call these conditions invisible disabilities, because they don’t show as obviously as many other genetic conditions,” Francomano said. “People struggle with so many different physical difficulties that often physicians don’t recognize that there may be a unifying underlying diagnosis. Their family may also doubt what they are saying, which can lead to tremendous conflict in families. It’s a long journey to diagnosis for many of these patients. I am really optimistic that the report will be a useful resource for many different people.”
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