Up to 13% of one cohort of adults with cystic fibrosis were affected by musculoskeletal complications, judging from data presented at the annual European Congress of Rheumatology by Dr. Ali Jawad of the Royal London Hospital and London Chest Hospital.
Because people with cystic fibrosis (CF) are living into adulthood these days, it has become clear that the same bone and joint manifestations of CF that are well known to the physicians who take care of them continue to be an issue for these patients in adulthood. But these bone manifestations have received very little attention in adults, Dr. Jawad said in an interview. Unless these problems are diagnosed early, they are likely to become disabling and interfere with CF treatment, he added.
"From our perspective, it’s a new type of disease involvement. We don’t seem to see the episodic or the hypertrophic osteoarthropathy. Is this because there is now better treatment for these patients? Most of the series reported were over the last decade. To summarize: Unlike other cases, we had no cases of large-joint episodic arthritis or hypertrophic osteoarthropathy; instead, our patients showed a polyarthritis with an age of onset of 25 in females and 38 in men. In addition to NSAIDs, a lot of these patients require DMARDs [disease-modifying antirheumatic drugs], and the important thing is that these patients need recognition because they depend on their mobility and exercise for chest clearance every day as the central component of the treatment of cystic fibrosis."
The study involved 143 adults with cystic fibrosis who attended the quarterly musculoskeletal clinic at the hospital’s CF unit.
With his coinvestigators, Dr. Jawad found that more than 13% of CF patients (aged 16 and older) in the cohort were affected by musculoskeletal complications. The age of onset was lower for female patients than males.
Dr. Ali Jawad
In the cohort, 7% of all patients were seen to have CF-related arthropathy (CFA), which manifests itself in recurrent episodes of swelling and stiffness in the large joints. In all cases, CFA took the form of polyarthralgia. Reports of previous research by other investigators have shown that CFA is a relatively infrequent complication, occurring in 2%-8.5% of the CF population.
Other musculoskeletal diseases seen in the cohort included spondyloarthritis, chondromalacia patellae, vitamin D deficiency, back pain, and rotator cuff tendinopathy. One patient had erosive disease on ultrasound examination, but that condition could not be confirmed by x-ray. None was seen to have hypertrophic osteoarthropathy, which is characterized by abnormal proliferation of the skin and bone tissue at the distal parts of the extremities.
"Our CF service is multidisciplinary, and includes practitioners from other disciplines such as hepatology, endocrinology, and rheumatology, along with specialist nurses, physiotherapists, and a nutritionist," Dr. Jawad said. Because most of the patients in the service receive nutritional advice, he added, vitamin D deficiency was rare.
Patients are customarily started on NSAIDs and, if these prove insufficient, are moved on to DMARDs. "Patients’ [responses] to DMARDs vary," Dr. Jawad said. "We initially start with sulfasalazine and/or hydroxychloroquine. If there is no response, we add or replace one of these with methotrexate. We have one patient on methotrexate for whom we are now considering a tumor necrosis factor inhibitor such as etanercept."
For patients with CF-related arthropathy and other complications, "early diagnosis is essential," Dr. Jawad said, because joint pain, swelling, and limitation of movement may become disabling and interfere with exercise and chest clearance, all of which are essential components of the treatment schedule for CF.
Although NSAIDs usually control symptoms, half of the patients needed DMARDs as well.
Early diagnosis and appropriate management are especially important for CF patients, because joint pain, swelling, and limitation of movement may become disabling and interfere with mobility, exercise, and clearing the airway of thick mucus, all essential components of CF daily treatment.