Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary hemochromatosis is the most commonly inherited autosomal recessive disorder. Hemochromatosis is a current or potential progression of abnormally high accumulations of iron in the liver. If left untreated, the condition can lead to chronic or irreversible hepatic fibrosis, cirrhosis, hepatocellular carcinoma, arthritis, and organ failure. Common signs and symptoms seen in the primary care setting include fatigue, weakness, abdominal pain, palpitations, skin pigmentation changes, and arthropathy, but any symptom associated with organ damage may be reported. Because prompt intervention can cease or reverse the debilitating effects of iron overload, prompt disease diagnosis and treatments are imperative.
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PMID:Detecting hereditary hemochromatosis. 1091 30

Most studies on health related quality of life (HRQoL) of chronic liver patients were done in small clinical populations or restricted to one aetiology or disease stage. There is still a need for a study in a large liver patient population with various aetiologies and disease stages, approaching a population-based study. We evaluated the impact of liver disease aetiology on generic HRQoL, disease-specific HRQoL and fatigue and we compared HRQoL and fatigue between aetiological groups and healthy Dutch controls. Members of the Dutch liver patient association completed the Liver Disease Symptom Index, Short Form-36, and Multidimensional Fatigue Index-20. We compared the HRQoL between patients with viral hepatitis, autoimmune hepatitis, cholestatic diseases, hemochromatosis and other liver diseases by linear, ordinal and logistic regression, corrected for disease stage and other significant factors. Viral hepatitis patients showed a worse mental health than other aetiological groups. Hemochromatosis patients demonstrated 17% more bodily pain than viral hepatitis patients and the strongest decrease in role emotional health with increasing age. Aetiological groups showed a worse generic HRQoL and more fatigue than controls. In conclusion, viral hepatitis and hemochromatosis patients have a more impaired HRQoL than patients of other liver disease aetiological groups.
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PMID:Generic and disease-specific health related quality of life of liver patients with various aetiologies: a survey. 1733 30

Hemochromatosis is a disorder of iron overload whereby there is toxic deposition of iron in various tissues and organs of the body. It can either be hereditary or secondary to some other underlying cause. Patients with mutations in the HFE gene are often predisposed to developing this disorder. It has a wide range of clinical presentation, from non-specific symptoms such as fatigue to overt development of cirrhosis, diabetes and skin pigmentation. We present an unusual case of hemochromatosis where an African-American female of child-bearing age presented to the emergency room with complaints of epigastric pain. She was found to have mildly elevated lipase and liver enzymes. Imaging studies were suggestive of acute-on-chronic pancreatitis with iron deposition in the spleen, pancreas and bone marrow. Her ferritin and transferrin saturation levels were elevated. She was diagnosed with acute-on-chronic pancreatitis secondary to alcoholism and hemochromatosis and treated with phlebotomy with good outcome. This case is one of the few reported cases of hemochromatosis in African-Americans, and emphasizes that even females in child-bearing age group can develop this condition. Elevated ferritin and transferrin saturation levels should prompt evaluation for this disorder.
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PMID:Hemochromatosis As an Unusual Cause of Pancreatitis in an African-American Female of Child-bearing Age. 3225 19