Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A middle-aged man developed impotence, gynaecomastia, peripheral neuropathy, pigmentation lymphadenopathy, scleroderma, malabsorption and Raynaud's phenomenon following prolonged exposure to trichlorethylene. Somes, but not all, of these features have previously been reported in vinyl chloride disease, and trichlorethylene is related chemically to vinyl chloride. Seven patients with a similar but not identical syndrome have been described in Japan and U.S.A., apparently unrelated to exposure to industrial toxins.
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PMID:A new syndrome with pigmentation, scleroderma, gynaecomastia, Raynaud's phenomenon and peripheral neuropathy. 21 95

Scleroderma is an uncommon complex disease. The onset is slow and the progress is chronic. The main pathophysiological changes vary; they affect blood vessels, connective tissue, collagen fibres, cause fibrin deposition and inflammatory reactions. There may be early oedema and a wide spectrum of organic involvement. Clinically, all the fibril-containing and connective tissue organs can be attacked in various degrees. The most common organ manifestations are the Raynaud's phenomenon in the arms and hands, vascular fibrosis, stiff and hard facial skin, restriction of joint movement by pericapsular hardening, calcium deposition and capsular rigidity. In the gastrointestinal tract muscle atrophy, collagen and connective tissue damage are common, especially at the cardia. Malabsorption may occur. Progressive pulmonary fibrosis leads to cor pulmonale and respiratory insufficiency. The liver, kidneys and the endocrine glands are, however, seldom involved. Therapeutic trials have been performed using many different groups of drugs: vasodilatating agents, corticosteroids, drugs found experimentally to influence connective tissue, thyroxine and a variety of anti-rheumatic agents. In the last decade best short-term clinical results have been achieved with penicillamine, some vasodilators, chlorambucil and in recent years with cyclofenil a potent anti-oestrogen, which has marked connective tissue and collagen metabolism influencing properties. Good therapeutic effects without serious side effects have been achieved.
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PMID:Scleroderma (progressive systemic sclerosis, PSS); pathophysiological, clinical and pharmacological aspects of the syndrome. 75 10

Internal organ function, biochemical, and immunological variables were assessed in 100 patients with progressive systemic sclerosis (PSS), 37 with diffuse scleroderma and 63 with the CREST syndrome. The frequency of oesophageal symptoms and dysmotility did not differ between the two subsets, but patients with diffuse scleroderma had more pronounced motility disturbances. Calcinosis, Raynaud's phenomenon, and telangiectasia were equally frequent in the two groups. Vital capacity, total lung capacity, and static lung compliance were lower among patients with diffuse scleroderma (p less than 0.001), who also had a higher frequency of lung fibrosis (p less than 0.001) and cardiomegaly (p less than 0.01). Sixty eight per cent of the patients with diffuse scleroderma and 62% of those with the CREST syndrome had a positive antinuclear antibody test, which was associated with oesophageal hypomotility (p less than 0.001), fat malabsorption (p less than 0.01) and pulmonary dysfunction (p less than 0.05). Thus, the severity of organ manifestations varied not only with the form of PSS, but also with the absence/presence of antinuclear antibody. This study shows that the term 'CREST syndrome' could be replaced by 'limited cutaneous systemic sclerosis'.
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PMID:Organ manifestations in 100 patients with progressive systemic sclerosis: a comparison between the CREST syndrome and diffuse scleroderma. 278 82

Ileal villous atrophy with normal proximal small intestinal mucosa is a rare lesion observed in a few diseases. We report here a case of unknown etiology. A 49-year-old woman presented with chronic diarrhea and steatorrhea due to bile acid malabsorption which was strikingly improved by a low-fat diet. Villous atrophy was total or subtotal, but enterocyte alterations were minimal. Crypts were hyperplastic and the lamina propria was infiltrated by lymphocytes and plasma cells mainly synthesizing IgM. These alterations were associated with the presence in the submucosa, and occasionally in the mucosa, of numerous convoluted nonectasic capillary tufts. Thrombi consisting of pure platelet aggregates were found in the capillary tufts and adjacent small vessels, whose walls were either normal or hyalinized. The patient suffered for many years from attacks of Raynaud's phenomenon and platelet aggregation was depressed in the presence of collagen. Thrombi disappeared after aspirin treatment, but the other lesions persisted at the time of death from an unrelated cause.
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PMID:Clinicopathological study of a patient with idiopathic villous atrophy and small vessel alterations of the ileum. 291 Jun 67

Systemic sclerosis is an extremely variable disease in its manifestations and consequently, treatment needs to be individualized depending on the specific problems that each patient has. Limited scleroderma patients have a prolonged duration of Raynaud's phenomenon and puffy fingers before they develop any skin thickening, digital ulcers or gastrointestinal symptoms. They are likely to present with all the classic manifestations of scleroderma. Diffuse scleroderma patients have a much more acute systemic onset with marked whole hand swelling and may initially have only subtle skin thickening. A good understanding of the differences between the natural history of limited and diffuse scleroderma will enable the physician to treat present problems and anticipate future ones more effectively. One should determine which major subset and organ systems are involved before deciding on the appropriate therapy. Advances in organ-specific therapy, particularly calcium channel antagonists in Raynaud's phenomenon, proton pump inhibitors in esophageal reflux, intravenous iloprost and endothelin receptor antagonists in pulmonary hypertension, and ACE inhibitors in renal crisis, have decreased morbidity and mortality in patients with scleroderma. Studies of aggressive therapies to prevent or improve pulmonary fibrosis are in progress. Further clinical experience in wound healing, gastrointestinal malabsorption and physical therapy for loss of motion has helped patients to have a more comfortable life. In recent years, a significant number of controlled clinical trials have been performed and there has been improved understanding of the best way to perform studies and of which patients are most likely to respond to therapy. Penicillamine, methotrexate, photopheresis, relaxin, interferons, and cyclosporine have all been studied in controlled trials with variable outcomes. Although an overall remittive therapy has not yet been determined, new, potentially useful agents are being investigated.
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PMID:Treatment of systemic sclerosis. 1172 50

Coeliac disease is characterized by life-long gluten intolerance. There are a wide variety of clinical presentations, which range from severe diarrhoea and weight loss to asymptomatic forms. The primary treatment for coeliac disease is the removal of gluten from the diet to prevent both immediate and long-term complications. The case of 16-year-old girl with coeliac disease was presented. At the age of 2 years the patient with impaired growth and abnormal stools was suspected to have coeliac disease. She experienced symptomatic improvement on gluten-free diet, but after 3 years the treatment was discontinued. The patient denied gastrointestinal or skin problems. At the age of 14 years Raynaud's phenomenon was observed for the first time. Two years later episodes of Raynaud's phenomenon involved all fingers and toes. Body mass index (BMI) was 23.8 kg/m2. Levels of free-carnitine, tocopherol, vitamin B12 were below normal limits and homocysteine level was increased. Antiendomysial IgA, antireticulin IgA, antigliadin IgA and IgG antibodies were positive. The duodenal mucosa showed total villous atrophy. Gluten free-diet and multivitamin supplementation provided some benefit in reducing Raynaud's phenomenon. The patient's well being has improved markedly. Atypical coeliac disease is usually seen in adolescents and adults in whom features of overt malabsorption are often absent. In cases of health problems occurring in persons with history of malabsorption syndrome in childhood suspicion of coeliac disease should be heightened and appropriate evaluation undertaken.
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PMID:[Atypical celiac disease in an adolescent girl--case report]. 1575 40