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Difference between revisions of "Medical liver disease"
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→Hereditary hemochromatosis
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===Epidemiology/General=== | ===Epidemiology/General=== | ||
*Genetic defect. | *Genetic defect. | ||
**One mutation (C282Y mutation) in up to 12.5% of people in populations of northern and central European origin<ref name=pmid18192769>{{cite journal |author=Weinberg ED |title=Survival advantage of the hemochromatosis C282Y mutation |journal=Perspect. Biol. Med. |volume=51 |issue=1 |pages=98-102 |year=2008 |pmid=18192769 |doi=10.1353/pbm.2008.0001 |url=}}</ref> | **One mutation (C282Y mutation) in up to 12.5% of people in populations of northern and central European origin.<ref name=pmid18192769>{{cite journal |author=Weinberg ED |title=Survival advantage of the hemochromatosis C282Y mutation |journal=Perspect. Biol. Med. |volume=51 |issue=1 |pages=98-102 |year=2008 |pmid=18192769 |doi=10.1353/pbm.2008.0001 |url=}}</ref> | ||
*Onset in males earlier than females (due to menses). | *Onset in males earlier than females (due to menses). | ||
*Mutation thought to confer survival advantage - several theories (increased resistance to TB, S. typhi vs. decr. iron def./incr. iron absorption)<ref name=pmid18192769/> | *Mutation thought to confer survival advantage - several theories (increased resistance to TB, S. typhi vs. decr. iron def./incr. iron absorption)<ref name=pmid18192769/> | ||
===Pathophysiology=== | ===Pathophysiology=== | ||
*Iron overload --> cirrhosis. | *Iron overload --> cirrhosis. | ||
===Microscopic=== | ===Microscopic=== | ||
*Periportal changes (early), i.e. no iron centrilobular. | *Periportal changes (early), i.e. no iron centrilobular. | ||
**Late stage disease has diffuse iron deposition. | **Late stage disease has diffuse iron deposition. | ||
*Brown granular -- may look like [[lipofuscin]] on [[H&E]]. | *Brown granular -- may vaguely look like [[lipofuscin]] on [[H&E]]. | ||
Diagnosis suggested by positive ''iron stain''. | Diagnosis suggested by positive ''iron stain''. | ||