Mixed connective tissue disease, overlap syndromes, and eosinophilic fasciitis

Article Abstract:

Although much has been learned about the processes underlying connective tissue diseases (CTDs) in the last decade, what triggers these diseases is still not understood. Thus, disease identification must rely on the association of certain symptoms and laboratory tests. However, one-fourth of patients with CTDs have overlapping features, with symptoms resembling those from several disorders, including systemic sclerosis. Currently, controversy exists over whether the overlap syndromes indicate the presence of separate diseases, show the broad spectrum of any one of the rheumatic disorders, or whether they are distinct independent disorders. CTDs are associated with autoantibodies (antibodies inappropriately made against the body's own molecules), and particular autoantibodies may be found in specific overlap syndromes. Mixed connective tissue disease (MCTD) is a unique syndrome that is now thought to initially include a group of features from a mixture of CTDs which eventually evolves into a classic CTD, usually systemic sclerosis. MCTD is usually diagnosed by the presence of a specific autoantibody. It is still unclear whether MCTD is an independent entity, and reflecting this, three different sets of criteria for diagnosis of MCTD have been developed. However, initially, Raynaud's phenomenon (the hands become white, then blue and then red in response to cold or emotion), swelling of the hands, arthritis of multiple joints, and rash occur. A broad array of symptoms may then develop, with erosive arthritis, skin nodules, calcium deposits around joints, and pulmonary (lung) hypertension being common. The cause is unknown, and MCTD is thought to be more common than systemic sclerosis and polymyositis, but more rare than systemic lupus erythematosus. Although the disease is often benign, complications such as pulmonary hypertension can be fatal. Eosinophilic fasciitis, associated with rapidly developing swelling of the extremities and skin hardening, is associated with high levels of eosinophils, a type of white blood cell, and inflammation and scarring of fascia (tough sheaths that separate areas of tissue). Details of this rare disease, 200 cases of which have been reported, are described. Appendix of MCTD symptoms follows. (Consumer Summary produced by Reliance Medical Information, Inc.)

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Childhood eosinophilic fasciitis presenting as inflammatory polyarthritis and associated with selective IgA deficiency

Article Abstract:

Eosinophilic fasciitis (inflammation of fibrous connective tissues involving elevated levels of a type of white blood cell, eosinophils) is much rarer in children than in adults. It is similar to scleroderma and is characterized by painful inflammation, swelling, and hardening of the skin on the hands, arms, legs, and feet. Unlike scleroderma, 60 percent of patients with this disease respond well to prednisone or hydroxychloroquine, so it is important to arrive at the correct diagnosis. Eosinophilic fasciitis often follows strenuous physical activity. The disorder in children is more common in girls, but a case is described of a 13-year-old boy who developed it. The patient at first had a flu-like illness with general swelling of lymph nodes. He recovered within two weeks, but two weeks later, he had a generalized fatigue and increasing stiffness, swelling, and tenderness in all arm joints and in the knees and ankles. He was usually athletic but had difficulty in walking short distances. On examination, he had swelling and synovitis (inflammation of the joint lining) in arm joints and in knees and ankles, but no skin changes or muscle weakness or tenderness. Laboratory tests were consistent with the presence of a systemic inflammatory disease, and he had high levels of eosinophils. He also had low blood levels of IgA (antibody or immunoglobulin of the A subclass). He was provisionally diagnosed with juvenile chronic arthritis and treated with naproxen, a non-steroidal anti-inflammatory drug. This partially improved the arthritis, but three months after the disorder started, his elbows and knees stiffened and hand joints were less flexible. Skin firmness but not thickening or tightening was found. Chloroquine was started, but skin tightening developed within a month. Biopsy of skin confirmed a diagnosis of childhood eosinophilic fasciitis, and treatment with prednisone resulted in resolution of joint pain, stiffness, and fatigue. IgA deficiency remained, but although this occurs in other diseases such as juvenile chronic arthritis, the significance of such a deficiency in this disorder was unclear. (Consumer Summary produced by Reliance Medical Information, Inc.)

Joint diseases

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Eosinophilic fasciitis associated with L-tryptophan ingestion

Article Abstract:

Eosinophilia-myalgia syndrome is a recently recognized disorder which has symptoms similar to those of better characterized rheumatic or autoimmune diseases such as scleroderma, and which is characterized by high blood levels of eosinophils (granular white blood cells) and muscle pain. The disorder has been linked to ingestion of L-tryptophan, an amino acid sometimes recommended for insomnia and to enhance body building. A case is reported of eosinophilic fasciitis (inflammation of fascia, fibrous tissues which envelop and separate muscles and other tissues) in a 62-year-old woman who was taking tryptophan for relaxation and who started an exercise program. The patient developed painful swelling of arms and legs, a reddish rash on legs, and joint pain involving all arm joints and the knees and ankles. In tender areas, the tissue was indurated (hardened) and appeared dimpled, while the legs had some pitting edema (fluid accumulation). Biopsy of leg tissues including muscle showed fibrous tissue and edema with infiltration by lymphocytes, white blood cells associated with reactions to infection or inflammation. The patient was treated with steroids, with little effect. Induration progressed, and small skin lesions and ulcers developed. Azathioprine, a cytotoxic (cell-killing) drug which is useful in suppressing immune system activity in autoimmune disorders, was administered and the patient discontinued tryptophan. The myalgia, ulcers, and induration subsequently improved. This case should be considered with reference to other studies of tryptophan-related eosinophilia-myalgia. (Consumer Summary produced by Reliance Medical Information, Inc.)

Health aspects, Tryptophan, Eosinophilia-myalgia syndrome

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