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Difference between revisions of "Medical liver disease"
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→Hereditary hemochromatosis
(→Wilson's disease: more) |
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==Hereditary hemochromatosis== | ==Hereditary hemochromatosis== | ||
=== | ===General=== | ||
Epidemiology: | |||
*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/> | ||
Associated pathology: | |||
*[[cardiomyopathy#Restrictive cardiomyopathy|Restrictive cardiomyopathy]]. (???) | |||
*Bronze diabetes. | |||
Pathophysiology: | |||
*Iron overload --> cirrhosis. | *Iron overload --> cirrhosis. | ||
===Microscopic=== | ===Microscopic=== | ||
*Periportal | Features: | ||
*Periportal iron deposition (early). | |||
**Late stage disease has diffuse iron deposition. | **Late stage disease has diffuse iron deposition. | ||
*Brown granular -- may vaguely look like [[lipofuscin]] on [[H&E]]. | *Brown granular -- may vaguely look like [[lipofuscin]] on [[H&E]]. | ||
Notes: | Notes: | ||
*Iron in the bile ducts and endothelium used to be though specific of hereditary hemochromatosis.<ref>MG. 17 September 2009.</ref> | *Iron in the bile ducts and endothelium used to be though specific of hereditary hemochromatosis.<ref>MG. 17 September 2009.</ref> | ||
**It is now thought to just reflect the severity of iron deposition, i.e. if the bile ducts and endothelium have iron - it is severe. | **It is now thought to just reflect the severity of iron deposition, i.e. if the bile ducts and endothelium have iron - it is severe. | ||
DDx - secondary hemochromatosis: | |||
*[[Myelodysplastic syndrome]]. | |||
*Chronic hemolysis. | |||
*Alcoholic liver disease; iron deposition common in [[cirrhosis]]. | |||
Images: | Images: | ||
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*[http://path.upmc.edu/cases/case77/path.html Hemochromatosis (upmc.edu)]. | *[http://path.upmc.edu/cases/case77/path.html Hemochromatosis (upmc.edu)]. | ||
=== | ===Stains=== | ||
* | Iron stain +ve -- '''important'''. | ||
* | *Light blue haze is not enough. | ||
* | **Must be separated from ''siderosis'' -- iron in Kupffer cells. | ||
===Molecular=== | |||
*PCR - '''diagnostic''' - see ''[[molecular pathology tests]]''. | |||
==Wilson disease== | ==Wilson disease== | ||