John Sergent, MD, on Treating Patients with Myositis

John Sergent, MD, MACP, MACR, is a professor of medicine in the Division of Rheumatology & Immunology at Vanderbilt University Medical Center (VUMC) where he's been a member of faculty for 47 years.

As an experienced rheumatologist, Sergent has treated many patients with rheumatologic and autoimmune diseases, including idiopathic inflammatory myopathies (IIM) that are less prevalent, like myositis.

While the term "myositis" can simply refer to the inflammation of swelling muscles, it's often used to name a rare disease that causes chronic muscle inflammation occurring with other sypmtoms.

For individuals living with this condition, their quality of life can vary drastically, according to Sergent. Patients are typically treated with a combination of steroids and immunosuppressant medications. Some respond well to treatment and can resume a relatively normal life with some difficulties.

"Many end up chronically weak even if they get a good recovery, and the active disease goes away" he explained. "There can be enough damage from the disease that they continue to be weakened, particularly the major muscles of the lower of the legs. So, they have trouble getting out of chairs and things like that."

Unfortunately, not all individuals have success with treatment and so the disease progresses–eventually involving the muscles related to respiration. At this point, Sergent said, life is extremely difficult and then becomes fatal.

As with most rare disease, diagnosis can be difficult. Sergent highlighted some details that could assist in differentiating myositis from a similarly presenting condition.

"The physical exam is very important, these people tend to have weakness of the proximal muscles," he said, "so they have trouble raising their arms and getting out of chairs and things like that–holding their head up sometimes."

Swallowing could also be a struggle for these patients. However, they should be able to grip their hands and move their feet since myositis doesn't affect the distal muscles, Sergent pointed out.

Raising awareness of rare diseases can help healthcare providers who don't encounter these illnesses on a regular basis become more educated in case they do encounter one. Additionally, investigating a rare disease can lead to other discoveries.

"In rheumatology, there are some diseases called autoinflammatory disease, which are tuition mostly genetic and are quite rare," Sergent said. "I only have maybe 2 or 3 patients in my practice right now with one of those. So, even though they're rare, they teach us a lot about how inflammation works in common diseases like lupus. So, there's a lot of value in studying rare diseases."