Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004093 (asthenia)
 2,650 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Screening for hereditary HFE hemochromatosis in the general population, by either phenotype or genotype, is not currently recommended by the French High Health Authority. Targeted screening for hereditary HFE hemochromatosis in groups with specific diseases (people with asthenia, arthropathic disorders, liver or heart disease, etc.) has not been shown to be effective. Family screening in first-degree relatives of any proband homozygous for C282Y is strongly advised. This should involve both phenotypic screening, that is, testing for serum iron markers and, if possible, a genotype study of siblings and adult children, conducted according to the rules for genetic counseling and testing. This type of screening is cost-effective. One obstacle today is that the national health insurance fund does not reimburse the HFE test.
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PMID:[Screening for hereditary HFE hemochromatosis]. 1754 12

A 46-year-old female patient was referred to our department with presenting symptoms of asthenia, jaundice, and pruritus. There was no medical history or clinical evidence of viral hepatitis, autoimmune hepatitis, hemochromatosis, or Wilson's disease. The patient revealed that 14 days prior to admission she had begun self-medicating with conjugated linoleic acid (CLA) to reduce body fat, leading to the suspicion of CLA hepatotoxicity, which was subsequently confirmed by a liver biopsy. After the patient ceased to ingest CLA, liver enzymes levels normalized. To the best of our knowledge, this is the first report of hepatotoxicity due to CLA ingestion.
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PMID:Conjugated linoleic acid-induced toxic hepatitis: first case report. 1872 3

Genetic hemochromatosis is an iron overload disease that is mainly related to the C282Y mutation in the HFE gene. This gene controls the expression of hepcidin, a peptide secreted in plasma by the liver and regulates systemic iron distribution. Homozygous C282Y mutation induces hepcidin deficiency, leading to increased circulating transferrin saturation, and ultimately, iron accumulation in organs such as the liver, pancreas, heart, and bone. Iron in excess may induce or favor the development of complications such as cirrhosis, liver cancer, diabetes, heart failure, hypogonadism, but also complaints such as asthenia and disabling arthritis. Iron depletive treatment mainly consists of venesections that permit the removal of iron contained in red blood cells and the subsequent mobilization of stored iron in order to synthesize hemoglobin for new erythrocytes. It is highly efficient in removing excess iron and preventing most of the complications associated with excess iron in the body. However, this treatment does not target the biological mechanisms involved in the iron metabolism disturbance. New treatments based on the increase of hepcidin levels, by using hepcidin mimetics or inducers, or inhibitors of the iron export activity of ferroportin protein that is the target of hepcidin, if devoid of significant secondary effects, should be useful to better control iron parameters and symptoms, such as arthritis.
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PMID:Iron as a Therapeutic Target in HFE-Related Hemochromatosis: Usual and Novel Aspects. 3048 49