By Kelly O. Weselman, M.D., F.A.C.R.
From ATLANTA Medicine, 2012, Rheumatology, Vol. 83, No. 3
Although many think of rheumatic diseases as causing joint pain and swelling, it is important to remember that these illnesses cause pathology in multiple other organ systems. Since these patients frequently present to primary care physicians and virtually all specialists, it is important to be familiar with the myriad manifestations of these diseases.
In patients with a known rheumatic disease and new symptoms, consider the disease or its medications as a potential cause. In patients without a known rheumatic disease, keep these illnesses in your differential. In working with your rheumatology colleagues, remember to look for objective evidence of organ involvement by carefully interpreting the history, exam, labs and imaging data. Let’s consider the effects of some of the common rheumatic diseases on each organ system.
Dermatologic Findings
Skin rashes and lesions are seen commonly in rheumatic diseases such as lupus, scleroderma, dermatomyositis and some types of vasculitis. Rashes can be specific to a disease or represent nonspecific pathology.
Eighty-five percent of lupus patients will have skin manifestations. These can include photosensitivity rashes, discoid lesions, oral and nasal ulcers, malar rashes as well as subacute cutaneous lupus. Remember that the malar rash of lupus spares the nasolabial folds and crosses the bridge of the nose, which distinguishes it from the more common rosacea and seborrheic dermatitis.
Dermatomyositis rashes may be subtle but provide important clues to the diagnosis. Particular sites of involvement are the face, eyelids, anterior chest, upper back, extensor surface of the elbows, extensor surface of the knees, and the knuckles of the hands. Erythroderma may also be present.
Findings suggestive of scleroderma include tight skin on the hands and face, areas of skin with mixed hypo- and hyper-pigmentation, and digital ulcers.
Some less-common vasculitides can also cause skin ulcers and rashes.
Hematologic Abnormalities
Abnormalities on the Complete Blood Count (CBC) are quite common in many of the rheumatic diseases. Anemia of chronic disease is especially frequent in Rheumatoid Arthritis (RA) and Systemic Lupus Erythematosus (SLE). Leukopenia and thrombocytopenia are common in SLE.
Thrombocytosis and anemia are commonly seen together in RA, Polymyalgia Rheumatica (PMR) and Temporal Arteritis. Unexplained hematologic abnormalities should prompt a careful search for not only malignancy but also a rheumatic cause. I addition, cytopenias are an important adverse effect from immunosuppressive medications. Glucocorticoids in any form commonly cause leukocytosis.
Pulmonary Disease
The lungs are commonly involved in many of the rheumatic diseases. In fact, lung disease may be the presenting manifestation. Pathology can be a direct result of the disease or medications used in treatment. It could also result from pulmonary infections associated with immunosuppression. Although most rheumatic diseases can affect the lungs, there are characteristic patterns that tend to occur with certain diseases.
Interstitial lung disease (ILD) is one of the most frequent pulmonary complications in these patients. ILD is most commonly associated with RA, SLE, Sjogren’s syndrome, scleroderma and inflammatory myopathies. Findings can include shortness of breath, dry cough, rales and a restrictive pattern on PFTs. A chest CT most commonly demonstrates ground-glass changes or honeycombing. Patients with rheumatic disease who develop a persistent cough and shortness of breath and are not responding to conventional treatment may have ILD.
Pleuritis can occur in RA and SLE and usually presents with pleuritic chest pain and dyspnea. It is often confused with costochondritis. A less common pulmonary complication is alveolar hemorrhage associated with vasculitis, SLE or scleroderma.
Polymyositis and dermatomyositis may cause respiratory muscle weakness and resultant restrictive changes on PFTs but a normal chest CT. Usually this is associated with a very high CPK and an increased risk for aspiration pneumonia.
Organizing pneumonia is commonly associated with RA and can rarely be associated with methotrexate use.
Nodular disease is commonly seen in RA and Wegener’s granulomatosis. However, it is important to search for malignancy since many rheumatic diseases increase the risk of lung cancer and lymphoma.
Cardiovascular Disease
Cardiovascular disease and its prevention are increasingly important in the care of rheumatology patients. Rheumatic diseases can affect the heart in many ways, and we are learning that some are associated with a higher risk for acute cardiovascular events.
Pericardial effusion is the most common cardiac manifestation of RA and SLE. In RA patients, effusions rarely cause symptoms. Lupus patients can develop pericarditis, myocarditis and endocarditis. Both RA and SLE patients have increased risk for atherosclerotic disease. Control of risk factors should be emphasized as it is in patients with diabetes. Data in RA patients suggest fewer cardiovascular events occur with use of biologic agents and better disease treatment.
Scleroderma patients are at increased risk for pulmonary arterial hypertension. We are discovering the importance of screening these patients with PFTs and echocardiograms. The gold standard is to measure RVSP and PAP by right heart catheterization for early diagnosis and treatment.
All types of vasculitis can be important causes of cardiac and vascular symptoms. Consider temporal arteritis, Takayasu’s arteritis, Behcet’s disease and Kawasaki’s disease in patients with a vasculitis affecting the large vessels. Although these diseases can be difficult to diagnose, clues to an inflammatory process such as fever, anemia, thrombocytosis, elevated CRP and/or ESR can sometimes suggest a rheumatic cause. Additionally, an unusual presentation may be a clue to underlying rheumatic disease.
In patients with a known rheumatic disease, consider an EKG or echocardiogram for new cardiac symptoms. In new patients with an atypical presentation of cardiac disease, consider a rheumatic disease.
Renal Manifestations
Renal disease is an important manifestation of lupus and some types of vasculitis. The most common finding is severe glomerulonephritis, which can lead to renal failure. Scleroderma patients specifically can develop renovascular disease leading to renal crisis. Additionally, many of the medications used to treat rheumatic diseases can have significant adverse renal effects such as tubulointerstitial disease.
Workup for lupus or vasculitis as a cause of renal disease requires a urinalysis and urine protein to evaluate for an active sediment and proteinuria to help determine whether a rheumatic disease might be involved. Often these patients require renal biopsy to assess the effect of their disease on the kidney.
It is important to monitor kidney function in many patients with rheumatic diseases. Patients with rheumatic disease without renal manifestations must be monitored for potential adverse medication effects.
Eye Disease
The rheumatic diseases most often associated with inflammatory eye disease include Sarcoidosis, Behcet’s, reactive arthritis, inflammatory bowel disease-related arthritis, Ankylosing Spondylitis, RA and SLE. It is important for patients with a painful red eye to see an ophthalmologist promptly. Inflammatory eye diseases such as uveitis require prompt treatment and often long-term immunosuppressive medications to prevent loss of vision.
Gastrointestinal Disease
Common GI symptoms such as diarrhea, abdominal pain, hematochezia and melena can all be associated with rheumatic disease.
Inflammatory bowel diseases, reactive arthritis, spondyloarthropathies, Behcet’s disease, celiac disease and Whipple’s disease can all cause intestinal inflammation and dysmotility resulting in diarrhea.
Abdominal pain can occur with or without diarrhea and is seen in inflammatory bowel disease and vasculitic syndromes such as Henoch-Schonlein Purpura (HSP), Polyarteritis Nodosa, RA, SLE, as well as scleroderma, Behcet’s and Whipple’s disease.
Gastrointestinal bleeding is usually due to a specific lesion in the gut and can occur in ulcerative colitis, HSP, vasculitis and Whipple’s disease.
Workup up these symptoms includes EGD and/or colonoscopy. Sometimes a CT or a motility study can be helpful. Remember, many of the medications used to treat rheumatic diseases can have an adverse effect on the gut.
While this article is not meant to be a comprehensive review, it can serve as a framework to add rheumatic diseases to a physician’s thought process in the evaluation of new signs and symptoms not primarily attributed to this subspecialty.
Think of rheumatic diseases as systemic diseases, not just causes of joint pain or arthritis. Even in a patient with no musculoskeletal symptoms, keep these disorders in the differential diagnosis. In a patient with a known rheumatic disease, consider that new signs or symptoms may be a new manifestation of the existing diagnosis. Finally, the medications used to treat these disorders should always be considered as a cause of new symptoms.
Dr. Weselman earned her Bachelor of Science in Biology from the College of William and Mary and her Doctorate of Medicine from Baylor College of Medicine, where she also completed her internship and residency in internal medicine. She completed her fellowship in rheumatology at Emory University School of Medicine. Dr. Weselman is a fellow of the American College of Rheumatology and a member of the Georgia Society of Rheumatology, American College of Physicians and American Medical Association. She is board certified in rheumatology and internal medicine.
