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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary hemochromatosis is an inherited autosomal recessive disease, associated to a mutation in the recently described HFE gene, which is located on the short arm of chromosome 6. The product of this gene combines with the beta-2-microglobulin and the ferritin receptor, and regulates the iron absorption in the small intestine crypt cells. It is possible that the mutation may cause the increased iron uptake by the intestinal cells. The disease is very much common in men after the forties, and its expression is influenced by concomitant alcoholism, iron rich diet, oral and parenteral iron administration, menstrual blood loss or abnormal hemorrhages, blood donations, pregnancy, lactation, and iron malabsorption clinical conditions, like celiac disease. Many patients are asymptomatic, and the diagnosis may be suspected by hepatomegaly of unknown cause, abnormal iron metabolism tests, increased serum aminotransferase levels, diabetes mellitus, and anonymous arthropathy. Less commonly hereditary hemochromatosis presented by symptoms and signs of chronic liver disease, or by the classic triad described by Trousseau skin pigmentation, hepatomegaly and diabetes mellitus. The diagnosis is confirmed by the increased serum ferritin levels and transferrin saturation, and the stainable iron in hepatocytes, measured by scale devised by Scheuer et al, or the measurement of the hepatic iron. The C282Y mutation was found in 64 to 100% of patients; eventually, subjects with hepatic iron overload identical to hereditary hemochromatosis has no mutation, and homozygous for the C282Y mutation do not express iron overload. Iron is best and quickly removed by weekly or twice-weekly phlebotomy of 500 ml, containing approximately 250 mg iron. One to 3 years of weekly phlebotomy may be required to reduce stores to normal. As a guide to long-term maintenance therapy, is recommended phlebotomy every 3 months and the serum ferritin level should be maintained by less than 50 ng/ml.
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PMID:[Hereditary hemochromatosis]. 1217 Feb 86

Iron deficiency is the world's most common nutritional deficiency and is associated with developmental delay, impaired behavior, diminished intellectual performance, and decreased resistance to infection. In premenopausal women, the most common causes of iron deficiency anemia are menstrual blood loss and pregnancy. In men and postmenopausal women, the most common causes of iron deficiency anemia are gastrointestinal blood loss and malabsorption. Hemoglobin concentration can be used to screen for iron deficiency, whereas serum ferritin concentration can be used to confirm iron deficiency. However, the serum ferritin concentration may be elevated in patients with infectious, inflammatory, and neoplastic conditions. Other tests may be needed, such as erythrocyte zinc protoporphyrin concentration, transferrin concentration, serum iron concentration, and transferrin saturation. The cause of iron deficiency must be identified. If the patient is male, postmenopausal female, or has risk factors for blood loss, then the patient should be evaluated for sources of blood loss, especially gastrointestinal (eg, colon cancer). Several studies have examined the relationship between iron deficiency and hair loss. Almost all have addressed women exclusively and have focused on noncicatricial hair loss. Some suggest that iron deficiency may be related to alopecia areata, androgenetic alopecia, telogen effluvium, and diffuse hair loss, while others do not. Currently, there is insufficient evidence to recommend universal screening for iron deficiency in patients with hair loss. In addition, there is insufficient evidence to recommend giving iron supplementation therapy to patients with hair loss and iron deficiency in the absence of iron deficiency anemia. The decision to do either should be based on clinical judgment. It is our practice at the Cleveland Clinic Foundation to screen male and female patients with both cicatricial and noncicatricial hair loss for iron deficiency. Although this practice is not evidence based per se, we believe that treatment for hair loss is enhanced when iron deficiency, with or without anemia, is treated. Iron deficiency anemia should be treated. Treating iron deficiency without anemia is controversial. Treatment of nutritional iron deficiency anemia includes adequate dietary intake and oral iron supplementation. Excessive iron supplementation can cause iron overload and should be avoided, especially in high-risk patients such as those with hereditary hemochromatosis. Patients who do not respond to iron replacement therapy should undergo additional testing to identify other underlying causes of iron deficiency anemia.
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PMID:The diagnosis and treatment of iron deficiency and its potential relationship to hair loss. 1731 91