A case of mixed connective tissue disease complicated with thymic carcinoma and Hashimoto's thyroiditis

We report the case of a 63-year-old woman who suffered from mixed connective tissue disease (MCTD) complicated with thymic carcinoma and Hashimoto's thyroiditis. Although many systemic syndromes associated with thymoma and thymic carcinoma, i.e., myasthenia gravis, pure red cell aplasia, hypogammaglobulinemia, and Hashimoto's thyroiditis, are known, this is the first report of MCTD complicated with thymic carcinoma. It was suggested that MCTD may be a paraneoplastic syndrome associated with thymic carcinoma.     

A case of mixed connective tissue disease complicated with hypertrophic obstructive cardiomyopathy

A 54-year-old female was diagnosed as mixed connective tissue disease (MCTD) complicated with secondary Sj?gren's syndrome. Although she had no dyspnea on exertion, the chest X-ray showed cardiomegaly with interstitial pneumonia. The echocardiogram demonstrated asymmetric hypertrophy of the interventricular septum. Diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) was confirmed by left ventriculography and myocardial biopsy. She was treated with prednisolone, resulting in improvement of swollen hand, elevated muscle enzymes and interstitial pneumonia. A rare complication of HOCM with MCTD was described.     

Malignant thymoma associated with mixed connective tissue disease: a case report

Many autoimmune diseases have been reported to be associated with malignancy. Mixed connective tissue disease (MCTD), however, has rarely been associated with malignancy. Thymoma is one of the neoplasms often reported to be related to various immunological disorders. Among the types of thymoma defined by WHO, malignant thymoma (thymoma type C) is the one least reported to be associated with autoimmune disease. Here, we report a case of malignant thymoma with concurrent MCTD, which manifested with acrosclerosis, Raynauds phenomenon, arthritis (synovitis), and a high titer of anti-ribonucleoprotein antibody.     

Meningitis in mixed connective tissue disease complicated by herpes virus infection: case report

The authors report a rare case of a female patient diagnosed with mixed connective tissue disease (MCTD). After a few years in remission, the patient acquired herpes zoster infection followed by a disease flare. Disease activity was accompanied by the development of meningitis. To determine whether the meningitis was caused by the previous herpes virus infection or was aseptic meningitis associated with the activity of MCTD raised important differential diagnostic issues. Repeated laboratory assessments of the patients sera and cerebrospinal fluid revealed leukocytopenia, high anti-U1 ribonucleoprotein autoantibody level, increased immune complex, and decreased complement concentrations. The administration of corticosteroids resulted in rapid improvements in clinical symptoms and laboratory indicators.     

A case of mixed connective tissue disease presenting with nephrotic syndrome

Abstract

A 70-year-old woman was admitted to our hospital for the treatment of diffuse scleroderma and marked edema in the lower extremities. Renal biopsy revealed membranous change, interstitial nephritis, and intimal hyperplasia of the small arteries. The patient was diagnosed as having mixed connective tissue disease (MCTD) presenting with nephrotic syndrome (NS). She responded well to a combination treatment consisting of methylprednisolone (m-PSL) pulse therapy, oral PSL, and cyclosporine A (CsA). We speculated on the actual pathogenesis of NS in this case of MCTD.     

A case of mixed connective tissue disease presenting with nephrotic syndrome

A 70-year-old woman was admitted to our hospital for the treatment of diffuse scleroderma and marked edema in the lower extremities. Renal biopsy revealed membranous change, interstitial nephritis, and intimal hyperplasia of the small arteries. The patient was diagnosed as having mixed connective tissue disease (MCTD) presenting with nephrotic syndrome (NS). She responded well to a combination treatment consisting of methylprednisolone (m-PSL) pulse therapy, oral PSL, and cyclosporine A (CsA). We speculated on the actual pathogenesis of NS in this case of MCTD.     

Panniculitis in a patient with mixed connective tissue disease

A 51-year-old woman who had been suffering from mixed connective tissue disease (MCTD) for 8 years developed an erythematous rash with pain and tenderness on her left leg. A skin biopsy revealed septal panniculitis with multiple lymphangiectasis. No vasculitis was observed. An increase in her prednisolone dose from 5mg to 20mg/day led to an improvement in these lesions. Panniculitis is very rare in MCTD. The clinical significance of panniculitis in MCTD is also discussed.     

Thrombotic thrombocytopenic purpura occurring in a patient with mixed connective tissue disease

Summary A case of thrombotic thrombocytopenic purpura (TTP) occurring in a patient with mixed connective tissue disease (MCTD) is reported.     

Widespread vasculopathy with hemolytic uremic syndrome,perimyocarditis and cystic pancreatitis in a young woman with mixed connective tissue disease

Summary A 15-year-old girl had severe Raynaud's phenomenon and arthralgias. A high ANA-IF titer was found and undifferentiated connective tissue disease was diagnosed. After 7 years of moderately flaring disease the patient deteriorated and presented with congestive heart failure, pleuropericardial effusion, hemolytic uremic syndrome, proteinuria and moderate hypertension. Autoantibodies against DNA, Sm-protein, and very high titers against U1RNP were detected. Therapy with high steroid doses, a cyclophosphamide pulse and 4 weeks of plasmapheresis with plasma exchange improved the heart, but not the renal condition. Symptomatic pancreatitis became the dominant problem of a progressively consuming process that resulted in the death of the patient. Postmortem examination revealed widespread vasculopathy with intima proliferation and only minimal fibrosis involving the kidneys, heart and other main organs, including the pancreas. Taken together, the clinical picture was of an overlap between scleroderma and systemic lupus crythemathosus; the serologic and histopathologic findings suggest a diagnosis of a severe form of mixed conective tissue disease (MCTD).     

Ibuprofen-induced meningitis in mixed connective tissue disease

Summary A young Black woman with mixed connective tissue disease (MCTD) developed an aseptic meningitis after receiving ibuprofen. The meningeal reaction, reported infrequently in systemic lupus erythematosus (SLE) and only once previously in MCTD, was characterized by a predominantly polymorphonu-clear cerebrospinal fluid (CSF) pleocytosis and depression of CSF glucose. Reversible renal insuffiency also occurred. Features suggestive of a hypersensitivity reaction included pruritus, conjunctivitis, facial oedema, desquamation of the palms and soles, and subsequent near total alopecia. Meningeal signs responded rapidly to systemic corticosteroid therapy. Patients with MCTD as well as those with SLE may be at peculiar risk of developing this uncommon reaction to ibuprofen.     

Concurrent immune thrombocytopenic purpura and Guillain-Barre syndrome in a patient with Hashimoto's thyroiditis

Immune thrombocytopenic purpura (ITP), Guillain-Barre syndrome (GBS), and Hashimoto's thyroiditis (HT) are autoimmune disorders caused by impaired self-tolerance mechanisms triggered by interaction between genetic and environmental factors. ITP is an immune-mediated destruction of platelets resulting in mucocutaneous bleeding, GBS is an ascending motor paralysis caused by an inflammatory demyelination of peripheral nerves, and HT is characterized by autoimmune-mediated destruction of the thyroid gland. The concurrent development of ITP and GBS has only rarely been reported in the literature, and GBS itself rarely occurs with other autoimmune disorders. We present a 21 year-old patient with known Hashimoto's hypothyroidism that simultaneously developed GBS and ITP after an upper respiratory tract infection. To the best of our knowledge, this is the first reported case of these three autoimmune disorders in the same patient. This points to a possible common genetic predisposition to these disorders.     

Rheumatoid factor isotypes in mixed connective tissue disease

Mixed connective tissue disease (MCTD) is a connective tissue disorder that is often accompanied by various immunological abnormalities. In this study, we analyzed serum levels of rheumatoid factor (RF) isotypes in patients with MCTD and in normal controls to determine if any of these isotypes reflects the severity of the disease. IgM-RF, IgG-RF, and IgA-RF were positive in 48, 38, and 33% of the patients, respectively. The frequency of positive anti-SS-A antibody and decrease in white blood cell counts were significantly greater in patients with elevated IgA-RF levels than that in those with normal levels. These results suggest that the presence of RF isotypes can be regarded as one of the various immunological abnormalities of MCTD.     

Mixed connective tissue disease associated with idiopathic portal hypertension and chronic thyroiditis

We report a patient with mixed connective tissue disease (MCTD) associated with idiopathic portal hypertension (IPH) and chronic thyroiditis. The patient was a 68-year-old Japanese woman who was admitted to our hospital for treatment of bleeding esophageal varices. She had previously exhibited Raynaud's phenomenon and had had arthritis for about 30 years. She also had had high titers anti-U1 of ribonucleoprotein (RNP) anti-single strand-DNA autoantibodies for 2 years, and had been diagnosed with MCTD 1 year previously. The bleeding from esophageal varices was successfully stopped by endoscopic injection sclerotherapy. Results of laboratory examinations, imaging examinations, and laparoscopy, including liver biopsy, indicated that the esophageal varices were caused by portal hypertension due to IPH. The patient also had a diffusely firm and enlarged goiter and hypothyroidism, and she exhibited anti-thyroid microsomal antibodies and anti-thyroglobulin antibodies, she was diagnosed as having a complication of chronic thyroiditis. This association of MCTD, IPH, and chronic thyroiditis is quite rare and provides a unique opportunity to observe immunological involvement in the pathogenesis of IPH.     

Osteoporosis in mixed connective tissue disease

The existence of osteoporosis in 58 postmenopausal women with mixed connective tissue disease (MCTD) was investigated. The mean bone mineral density assessed by dual energy X-ray absorptiometry in the lumbar spine was decreased in 25.8% of the patients, reflecting osteoporosis (T score < –2.5). In the femoral neck there was no significant difference between the BMD of MCTD patients and that of age-matched, healthy postmenopausal women. Low bone mineral density was found among patients on, as well as off, corticosteroids. The extent of bone loss was associated with disease duration, as well as corticosteroid therapy. Serum osteocalcin levels were lower in MCTD patients than in controls. Lower serum oestradiol, testosterone and dehydroepiandrosterone sulphate levels were detected in MCTD patients than in controls. Thus, MCTD may be associated with increased bone loss. Pathogenic factors may include the disease itself, corticosteroid therapy, impaired osteoblast function, and low serum sex hormone levels.     

Necrotizing fasciitis caused by Streptococcus pneumoniae in mixed connective tissue disease

A 42-year-old man was hospitalized because of chills, fever, and severe polyarthralgia. He had a 5-year history of mixed connective tissue disease (MCTD) with polyarthritis which had been treated with a nonsteroidal anti-inflammatory drug alone. On the second day of hospitalization, necrotizing fasciitis of the right leg developed. Streptococcus pneumoniae was later detected in a blood culture. Pneumococcal infections of the soft tissues are uncommon, and have been reported in immunosuppressed patients and patients with systemic lupus erythematosus. This is the first report of a case of necrotizing fasciitis caused by S. pneumoniae in a patient with MCTD. Received: December 1, 1999 / Accepted: April 21, 2000     

Aggressive autoimmune hepatitis in a case of mixed connective tissue disease

The association of autoimmune hepatitis and mixed connective tissue disease (MCTD) has rarely been described in the literature. We report a 16‐year‐old female patient with established diagnosis of MCTD who developed autoimmune hepatitis in 2006 1 year after her disease onset. The diagnosis of autoimmune hepatitis in our case was based on elevated liver enzymes, positive anti‐nuclear antibody, positive anti‐smooth muscle antibody (ASMA), positive liver‐kidney microsomal antibody (anti–LKM‐1) and negative virology screening tests for viral hepatitis. The patient as successfully treated with steroid and azathioprin.     

Pulmonary veno-occlusive disease as a primary cause of pulmonary hypertension in a patient with mixed connective tissue disease

Mixed connective tissue disease (MCTD) is a systemic disease seen in a group of patients with overlapping clinical features of lupus, scleroderma, polymyositis, and rheumatoid arthritis. A defining feature of MCTD is the presence of antibodies against the U1-ribonucleoprotein (U1-RNP) complex. Pulmonary hypertension is the major cause of death in MCTD. We report an autopsy case of MCTD with pulmonary hypertension. The U1-RNP antibody of this patient was 171.9 U (normal < 25.0 U). The immediate cause of death was attributed to acute pulmonary embolism at left lower lobe. A severe vasculopathy characterized by fibrotic occlusion of small veins and venules, associated with prominent capillary congestion, was consistent with pulmonary veno-occlusive disease (PVOD). This is the first case reported in which PVOD is the primary cause of pulmonary hypertension in MCTD.     

A case report of successful treatment with immunoadsorption onto protein A in mixed connective tissue disease in childhood

An 11-year-old male patient suffering mixed connective tissue disease with life-threatening pulmonary arterial hypertension, progressive heart failure (New York Heart Association class III-IV), skin ulcers, Raynaud's phenomenon and arthritis, showing no improvement after intensive immunosuppressive therapy or high dose steroids, was treated with immunoadsorption onto protein A. With a combined therapy of low-dose cortisone and bosentan and 22 sessions of immunoadsorption, his condition improved significantly and he continues in clinical remission. At the time of writing no further immunosuppressive therapy or immunoadsorption had been necessary. The patient is now 15 years old and healthy with an age-based constitution comparable to the normal population.     

Pulmonary arterial hypertension in mixed connective tissue disease: successful treatment with Iloprost

This paper describes a 61-year-old woman who presented with mixed connective tissue disease, which was complicated by the development of pulmonary arterial hypertension (PAH). Her condition worsened rapidly, with development of haemopthysis, tachypnoe and cardiac arrest. Doppler echocardiography showed a high systolic pulmonary arterial pressure (98 mmHg), confirmed by the right heart catheterization. Vasculopathy of the pulmonary artery vessels was detected following open lung biopsy. No pulmonary embolism was found. Because of suspicion of flare of her underlying disease, which leads to PAH, immunosuppressive treatment was started with high doses of corticosteroid and cyclophosphamide, in combination with the prostacyclin analogue, Iloprost, and low molecular weight heparin. The therapy resulted in slow recovery over 6 weeks, with control echocardiography showing normalization of the high pulmonary pressure, and the patient being capable of returning to everyday activities.     

Mixed connective tissue disease: a case with scleroderma renal crisis following abortion

The term mixed connective tissue disease (MCTD) has been applied to a particular subset of patients with overlapping clinical features of systemic sclerosis, systemic lupus erythematosus, and polymyositis. Immune response to U1-ribonucleoprotein is the defining serological feature of MCTD. There are different organ and system involvements in MCTD including the heart, lung, kidney, muscle, joints, gastrointestinal, and hematologic involvements. Reports describing pregnancies in patients with MCTD are rare, and the results have been contradictory: a high risk of fetal loss and of disease exacerbation or no influence on fetus or mother. In MCTD, simultaneous pulmonary and renal involvement is very rare. In this paper, we report a case of MCTD with pulmonary involvement that developed scleroderma renal crisis after an abortion.