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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemochromatosis is a disorder characterized by the association of portal cirrhosis with deposition of excess amounts of iron in the parenchymal cells of many organs. Arthralgia and arthritis occur in about 50% of patients. The role of the radiologist is often significant in the recognition of this condition because hemochromatosis may be unsuspected clinically since the hepatic cirrhosis is frequently inactive at the time the arthritis develops. The possibility of hemochromatosis should be considered when the characteristic involvement of the metacarpophalangeal, radiocarpal, and proximal interphalangeal joints of the hand and wrist is present. In addition, articular and fibrocartilage calcification is often noted, particularly in the knee, triangular cartilage of the wrist, hip, elbow, symphysis pubis, and shoulder. Although localized chondrocalcinosis may be seen in association with many disorders, as well as in asymptomatic elderly persons, generalized chondrocalcinosis is a significant finding and is commonly associated with hemochromatosis. Recognition of the typical distribution of the arthropathy plus its characteristic roentgenographic features should aid in the identification of patients with the disorder who do not demonstrate the typical clinical features of hemochromatosis.
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PMID:Hemochromatosis: a disease often silent but not invisible. 17 3

Observations on the clinical effects of venesection therapy in 85 treated, as compared with 26 untreated, patients with idiopathic haemochromatosis showed decreased pigmentation and hepatomegaly together with a return to normal tests of liver function in half the patients who had abnormal tests at presentation. Control improved in 28 per cent of those patients with diabetes mellitus, although some patients developed it during the period of observation, despite venesection. Portal hypertension, testicular atrophy and arthropathy were not improved. In only 12 patients was there sufficient reaccumulation of iron after the initial course of venesection to merit further treatment. Rates of iron accumulation in these patients varied between 1-4 mg and 4-8 mg per day and chelatable iron levels were noted to be inappropriately high in relation to body iron stores during the early stages of the reaccumulation period. Life table data shows that the percentage survival five and ten years after diagnosis was 66 and 32 per cent respectively for the treated patients, and 18 and 6 per cent respectively for the untreated patients, both statistically highly significant differences (p less than 0-01). Possible clinical differences such as age of presentation, the presence of diabetes mellitus, cirrhosis, clinical hepatic failure and hepatoma between the treated and untreated groups that might otherwise have weighted survival in favour of the treated group were corrected by the use of covariant analysis. This gave mean log survival values of 4-15 and 2-88 for the treated and untreated patients respectively, equivalent to 63-4 months and 17-8 months, a highly significant difference (p less than 0-01). Ten patients, all of whom had cirrhosis at the time of diagnosis, died of malignant hepatoma between three and 15 years after completing venesection therapy. There was also a high rate of death from neoplasms in a variety of other sites--22 per cent in the venesected group, strikingly higher than that rate predicted for a similarly aged population using national cancer mortality rates.
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PMID:Long term results of venesection therapy in idiopathic haemochromatosis. 18 63

Chronic arthritis was the only symptom that led to the detection of increased iron stores in four patients. In these persons, the serum iron was ordered at the time of initial examination, and ranged from 212 to 237 microgram/dl with a transferrin saturation of 83% to 100%. Liver biopsy specimens showed hepatocyte iron deposition in each person, with definite cirrhosis in only one patient. These cases illustrate that a chronic arthropathy may be the first clinical manifestation of iron overload, and can lead to discovery of the disease in patients and their family members. Treatment may then be initiated before extensive tissue damage has occurred.
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PMID:Arthropathy as the major clinical indicator of occult iron storage disease. 57 39

Eight patients with hemochromatosis (HC) were followed up. For a long time HC ran a latent course. Throughout many years, the symptoms occurred at varying succession. In many cases, the first manifest symptoms included skin itch, arthropathy, and diabetes mellitus. They may be dominant in the clinical picture for a long time, masking the genuine cause of the disease. The correct diagnosis was established, as a rule, at the pronounced stage of HC. Before that event the patients were followed up and treated by the endocrinologist (3 persons), by the infectionist (2 persons), dermatologist and traumatologist (2 persons), and by the internist (1 person). Appearance of one of the symptoms of the classical triad can be regarded as the onset of HC. The cardinal symptoms that determine the clinical picture progressed for the most part: liver cirrhosis, diabetes mellitus, and melanoderma. The first two require appropriate correction. Melanoderma presents a cosmetic and social and psychological problem. In HC patients, disorders occurring by the type of liver porphyria are recordable. They are of secondary nature, being an unfavourable prognostic sign. Investigation of iron metabolism in patients suffering from chronic liver diseases should be carried out by all means, since it can be regarded a specific enough test in the diagnosis of HC. Emphasis is laid on the importance of early diagnosis of HC.
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PMID:[The clinical characteristics of the course of hemochromatosis]. 178 14

During the period 1950-1985, a total of 179 cases of clinically overt hereditary haemochromatosis (HH) were registered in Denmark, 140 males and 39 females. Median age at diagnosis was 55 years (range 29-81). Diagnostic approaches, symptoms and physical signs at discovery are described. All patients had grade 3-4 liver haemosiderin iron, and cirrhosis was present in 84%. Serum (S-) transaminase was elevated in 92%, S-alkaline phosphatase in 47% and S-bilirubin in 23%, while plasma prothrombin time was below normal in 34%. Females had higher alkaline phosphatase than males (p less than 0.05). Bone marrow haemosiderin iron (n = 81) showed no relation to iron status indicators and was unsuitable as a diagnostic tool. Skin biopsy (n = 56) was positive for haemosiderin iron in 67% and for melanin in 57%, but was of limited value in the assessment of HH. Arthropathy was registered in 44%; arthralgias and clinical joint abnormalities occurred more frequently in females than in males (p less than 0.05). Latent diabetes mellitus was found in 34% and overt diabetes in 55%, being more frequent in males than in females (p less than 0.05). Other endocrine abnormalities were seen in 66%. Cardiac failure was observed in 9% and abnormal ECG in 35%. Males had higher haemoglobin (p less than 0.0001) and S-iron (p less than 0.01) than females, while S-transferrin, transferrin saturation, S-ferritin and mobilizable iron stores showed no significant sex differences. Median transferrin saturation was 87% (range 52-100); values greater than 62% were observed in 96% of the patients. Median S-ferritin was 3,400 micrograms/l (800-12,700) and median iron stores 14.8 g (4.5-36.4).
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PMID:Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases. 191 39

Idiopathic hemochromatosis is a hereditary disease characterized by a progressive iron overload secondary to high intestinal iron absorption. After a latent period of many years, manifestations of liver cirrhosis, diabetes mellitus, cardiac failure, hypogonadism, skin hyperpigmentation and arthropathy can occur. Liver cirrhosis is the most common feature and it is complicated by hepatocellular carcinoma in 30% of cases. Tests of high sensibility are available for early diagnosis. Repeated phlebotomy can prevent clinical features in asymptomatic patients and can improve prognosis in symptomatic subjects. Current concepts in idiopathic hemochromatosis are reported in this review.
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PMID:[Idiopathic hemochromatosis]. 298 52

Hemochromatosis is a disease in which the inappropriate absorption of iron over 30-40 yr results in tissue iron overload and the development of cirrhosis of the liver, diabetes, hypogonadism, arthropathy, and skin pigmentation. We present an infant who died at 2 days of age, and who was found to have massive iron overload in the liver. This case is consistent with a rare condition that has been called neonatal hemochromatosis. This disease is discussed in the context of an overview of iron metabolism and adult hemochromatosis.
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PMID:Neonatal hemochromatosis: a case and review of the literature. 327 60

Acquired hemosiderosis resulting from massive iron deposits in various organs, including heart, liver, and pancreas, may lead to architectural and functional disturbances of these organs. Even though iron overload can occur in nonuremic as well as in uremic individuals, the dialysis patient is at particular risk for developing hemosiderosis. Many dialysis patients receive exogenous iron from either oral iron therapy or blood transfusions. In addition, these patients seem to be at high risk for retaining iron. A diagnosis of excess iron deposition should be considered if the patient has unexplained cardiomyopathy, hepatic cirrhosis, proximal myopathy, diabetes mellitus, arthropathy, or immune dysfunction such as listeriosis. Several techniques are available for determining iron overload. Diagnostic tests include measuring serum ferritin levels, staining bone marrow preparations for excess iron, measuring tissue hemosiderin concentrations, magnetic resonance imaging, and the deferoxamine (DFO; Desferal) "challenge test." The simplest treatment for iron overload in nonuremic patients is removal of iron by venesection. However, in patients in whom venesection is not feasible, the chelating agent DFO can effectively remove excess iron. In the dialysis patient, DFO therapy can be combined with either dialysis or hemoperfusion to remove the iron-DFO complex that would otherwise be removed by the kidney. DFO therapy in the nondialyzed individual has proven to be successful, but before treatment, the benefits of the treatment must be weighed against possible adverse side effects such as cataracts, changes in color vision, and anaphylaxis. In the dialysis patient, indications for iron removal are less clearly defined.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Management of iron overload in dialysis patients. 329 89

Idiopathic hemochromatosis in young adults has been increasingly recognized over the last three decades. Younger patients with hemochromatosis frequently have presenting problems other than diabetes, cirrhosis, and hyperpigmentation. A young woman with idiopathic hemochromatosis is described. Arthritis and secondary amenorrhea developed at age 20, and liver biopsy showed hemochromatosis at age 29. Further work-up revealed that the amenorrhea was due to underproduction of pituitary gonadotropins. The patient was treated with phlebotomy. Estrogen and progesterone replacement was begun because of severe osteoporosis. Serum iron studies may be useful in young patients with unexplained amenorrhea and/or arthropathy.
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PMID:Idiopathic hemochromatosis presenting as amenorrhea and arthritis. 357 42

Idiopathic hemochromatosis is normally associated with hepatic cirrhosis, myocardial disease and diabetes mellitus. A characteristic arthropathy occurs in approximately 40% of patients with hemochromatosis. The onset may precede other detectable clinical manifestations of the disease. In these cases a early diagnosis and treatment may improve the prognosis. A review of the recent literature is presented. A typical hemochromatosis arthropathy is described in one patient. The significance of a frequent associated chondrocalcinosis is discussed.
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PMID:[Arthropathy in idiopathic hemochromatosis]. 361 92


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