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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Idiopathic hemochromatosis (iH) is typically a disease of older males. The case presented here describes a 26-yr-old woman with problems presenting heart failure, insulin-dependent diabetes, hepatomegaly, and secondary amenorrhea. The diagnosis was established by serum iron and transferrin saturation measurements, liver biopsy, and bone marrow examination for iron. Twenty grams of iron were removed by phlebotomy over 30 mo, and the patient's symptoms improved. A review of the literature pertinent to people with symptomatic onset of IH before age 30 yr revealed 52 young people in addition to this case. In contrast to IH patients older than 30, there was an almost equal ratio between the sexes, a greater frequency of cardiomyopathy and hypogonadism, and a lower frequency of diabetes mellitus and hepatic involvement. An autosomal recessive mode of inheritance appears to be most likely in this young group.
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PMID:Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. 75 39

Idiopathic hemochromatosis is an iron-storage disease more common in men than in women. It is characterized clinically by diabetes mellitus, cirrhosis of the liver, pigmentation of the skin and cardiac failure. The diagnosis may be overlooked when the presenting symptoms do not follow the pattern. A case is reported which was diagnosed after an onset that featured neurologic symptoms.
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PMID:Idiopathic hemochromatosis: case report of a patient presenting with neurologic symptoms. 86 79

Hereditary haemochromatosis is an autosomal recessive disease that is genetically expressed by excessive accumulation of iron in the tissues, resulting in cirrhosis, diabetes mellitus, cardiomyopathy and hypogonadism. As the disease may be diagnosed before the appearance of symptoms, and prevented by repeated phlebotomies, there are strong implications for adoption of a screening procedure. Determinations of transferrin saturation (TS) and serum ferritin concentration (SF) were used to screen 4302 blood donors, who were selected for follow-up studies if they fulfilled any of the following three criteria: (i) TS greater than or equal to 0.7; (ii) TS greater than or equal to 0.5 together with SF greater than or equal to 150 micrograms l-1; (iii) SF greater than or equal to 300 micrograms l-1. A total of 58 subjects who fulfilled at least one of these criteria were reinvestigated, after which 18 individuals still fulfilled at least one criterion. Fifteen subjects having SF greater than or equal to 300 micrograms l-1 were offered liver biopsy and thirteen of these accepted. In one individual, no stainable iron was detected, and two subjects did not fulfil the previously established diagnostic criteria for the diagnosis of hereditary haemochromatosis. Ten subjects who had a high TS and liver iron grade 2-4 according to Bassett were classified accordingly as homozygotes. On the basis of these results, the prevalence of haemochromatosis in Denmark was estimated to be 0.0037-0.0046.
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PMID:Screening for haemochromatosis: prevalence among Danish blood donors. 189 49

This study investigated the long-term survival rates of 85 patients with hereditary hemochromatosis. Eighty-five patients with documented hereditary hemochromatosis diagnosed between 1958 and 1989 and followed up at the University Hospital (University of Western Ontario) medical center were retrospectively reviewed for this analysis. The current status of the patient was assessed by interview or written questionnaire completed by the patient or the family physician. Estimates of differences in survival rates were obtained using Kaplan-Meier life-table and Cox regression analysis. Liver histology, clinical features of the disease, and number of venesections were analyzed to determine their relationship to survival. In the course of a mean follow-up interval of 8.1 +/- 6.8 years (range, 0-31 years), there were 17 deaths among the 85 hemochromatosis patients. Patients with cirrhosis at the time of diagnosis were 5.5 times more likely to die than noncirrhotic patients. Patients who were noncirrhotic at the time of diagnosis had an estimated survival that was not significantly different from age- and sex-matched members of the normal population. Diabetes did not increase the risk of death after data were controlled for the presence of cirrhosis. Early diagnosis and treatment of hemochromatosis in the precirrhotic stage can lead to long-term survival similar to that in the general population. The presence of cirrhosis significantly increases mortality and is the major clinical factor affecting survival.
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PMID:Long-term survival analysis in hereditary hemochromatosis. 206 12

Since diabetes mellitus is a frequent manifestation of haemochromatosis the prevalence of the disease was investigated in 418 patients attending a diabetic clinic. 21 (5%) patients had a persistently high serum ferritin (men, over 400 micrograms/l; women, over 300 micrograms/l) and 5 of these had transferrin saturations consistently over 55%. Idiopathic haemochromatosis was confirmed by liver biopsy in 4 patients, all of whom had a hepatic iron index greater than 2.0. The prevalence rate of previously unrecognised idiopathic haemochromatosis was thus 9.6 per 1000 (general population prevalence 1 in 250), suggesting that screening of diabetic patients for this genetic disease may be more cost-effective than screening in the general population.
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PMID:Prevalence of genetic haemochromatosis among diabetic patients. 257 49

A significant decrease of work fitness was revealed in 23 patients with verified diagnosis of hereditary hemochromatosis exposed to graded physical exercise. It is assumed that the decrease of exercise tolerance in these patients may be most possibly accounted for by the lowering of myocardial contractility as a result of its injury due to iron overload. It is not excluded, however, that nonspecific dystrophic processes determined by diabetes mellitus, liver damage and coronary atherosclerosis in some cases may develop.
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PMID:[Physical work capacity studied by measured physical loading in patients with hereditary hemochromatosis]. 263 73

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

Hereditary hemochromatosis is the most common cause of iron overload in adults and is probably the second most common cause of iron overload in children in the United States next to transfusional overload. Serious morbidity from this disorder of iron absorption can occur in early as well as in middle and advanced age, iron overload having been reported in children with hereditary hemochromatosis as early as 2 years of age. Younger persons differ from older persons in that the risk for iron loading in females appears to be equal to the risk for males, in contrast to a preponderance of males among older patients. Also, younger patients frequently demonstrate cardiac and gonadal involvement, with cardiac failure commonly leading to death, whereas older patients are more likely to have liver involvement and diabetes mellitus, with liver failure and hepatoma commonly leading to death. Because early diagnosis and treatment can prevent the toxicities of iron overload, appropriate screening can be lifesaving. Transferrin saturation is the most reliable screening test. Liver biopsy with objective measurement of hepatic iron stores is the most important diagnostic criterion at present, although reliable noninvasive methods for quantitating body iron are being developed. Young individuals who should be screened for iron overload include patients with cardiac myopathies, hypogonadism, amenorrhea, loss of libido, diabetes mellitus, other endocrine disorders, cirrhosis of the liver, and arthritis, as well as the siblings, parents, and children of patients with hereditary hemochromatosis or iron loading of unknown cause.
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PMID:Hereditary hemochromatosis in children, adolescents, and young adults. 305 60

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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