Solving Medical Mysteries

Rheumatologists are specialists who care for patients with musculoskeletal diseases and systemic autoimmune diseases—conditions that can affect any area of the body and that give rise to a wide spectrum of symptoms. When Alexis Boneparth, MD mentions what drew him to pediatric rheumatology, he talks about his interest in understanding the origins of these often complex conditions and the challenges inherent in diagnosing them.

Treatments for rheumatologic conditions were relatively limited until the past 10 to 20 years, so rheumatologists frequently turned to steroids to control inflammation, and patients often developed serious and sometimes permanent side effects if they took steroids over extended periods of time. New “biologic” medications and an expanding number of other drugs now available have greatly improved the prognosis for children with rheumatologic conditions, says Dr. Boneparth, a faculty member in the Division of Allergy, Immunology, and Rheumatology. “Now, more often than not we can treat patients’ problems effectively, improve their quality of life, and make them feel a lot better.”

Rheumatologic diagnoses are often categorized into four main areas: juvenile arthritis—the most common condition, lupus, dermatomyositis, and vasculitis. One of rheumatologists’ primary goals, Dr. Boneparth says, is to alleviate patients’ pain, which can be severe and often functionally limiting. “When a child has arthritis in the ankle or knee it can be hard to participate in activities like gym, or even to walk.” Another goal is to prevent long-term joint damage, which can occur as inflammation from chronic or untreated arthritis damages cartilage, potentially leading to permanent functional disability and pain. Rheumatologic disease in children can affect their musculoskeletal growth and development, so pediatric rheumatologists must keep this in mind and try to minimize the impact of both the disease and treatment.

A better understanding of how the immune system goes off course in these conditions has enabled researchers to develop treatments that target individual inflammatory molecules such as tumor necrosis factor alpha (TNF), a central player in the inflammation resulting from arthritis. “We now have a big category of medications that target TNF specifically, and they’re often the first-line biologic therapy in patients with juvenile arthritis. Since these work very well, we can avoid using steroids as often as we used to.”

One of Dr. Boneparth’s special clinical interests is a relatively common condition that appears in adolescence called amplified musculoskeletal pain syndrome (AMPS). AMPS is an umbrella term for chronic, non-inflammatory musculoskeletal pain that has no alternative diagnosis or explanation. Both fibromyalgia, pain throughout the entire body, and complex regional pain syndrome, chronic pain localized to one part of the body, are considered AMPS. Teenagers with AMPS often have associated symptoms like chronic headaches, chronic irritable bowel syndrome, and fatigue.

“A hallmark of these conditions is that testing for other diagnoses is normal,” Dr. Boneparth says. “There is no sign of inflammation and no autoimmune features. So unfortunately patients with AMPS often undergo prolonged diagnostic work-ups and it can takes a long time for patients to find a doctor who is familiar with AMPS and can make the diagnosis. Because one of the most prominent symptoms is musculoskeletal pain, it’s not unusual for these patients to be referred eventually for a rheumatology evaluation.”

The most effective way of addressing AMPS symptoms is daily, gradually increasing exercise and physical therapy. “Some patients, whose symptoms are not responsive to outpatient treatment, may require very intensive treatment—five days a week, six to eight hours a day for three or four weeks, so it’s a big commitment. But if they haven’t been able to attend school and they are much more functional and their pain is controlled when they come out of an intensive treatment program, it’s often worthwhile. The downside is that it’s not a quick fix. It takes time and effort and motivation from the patient,” Dr. Boneparth concludes.