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Hereditary hemochromatosis (view source)
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'''Hereditary hemochromatosis''', abbreviated '''HH''', is a genetic (autosomal dominant inherited) cause of iron deposition. | |||
Secondary causes of hemochromatosis are dealt with in ''[[secondary hemochromatosis]]''. | |||
==General== | |||
Epidemiology: | |||
*Genetic defect - ''HFE gene''.<ref name=omim613609>{{OMIM|613609}}</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> | |||
**Homozygotes get the disease.<ref name=omim613609>{{OMIM|613609}}</ref> | |||
*Onset in males earlier than females (due to menses). | |||
*Mutation thought to confer survival advantage - several theories (increased resistance to [[TB]], S. typhi vs. decreased iron deficiency/increased iron absorption).<ref name=pmid18192769/> | |||
Associated pathology (mnemonic: '''h'''emochromatosis '''c'''an '''c'''ause '''d'''eposits '''a'''nywhere''):<ref>URL: [http://en.wikibooks.org/wiki/USMLE_Step_2_Review http://en.wikibooks.org/wiki/USMLE_Step_2_Review]. Accessed on: 15 March 2012.</ref><ref name=pmid19034258>{{Cite journal | last1 = Fix | first1 = OK. | last2 = Kowdley | first2 = KV. | title = Hereditary hemochromatosis. | journal = Minerva Med | volume = 99 | issue = 6 | pages = 605-17 | month = Dec | year = 2008 | doi = | PMID = 19034258 }}</ref> | |||
*Hypogonadism. | |||
*[[Cirrhosis]] and [[HCC]]. | |||
*[[Cardiomyopathy]] - [[DCM]] (esp. with ''his63asp'' mutation),<ref name=pmid11040018>{{Cite journal | last1 = Mahon | first1 = NG. | last2 = Coonar | first2 = AS. | last3 = Jeffery | first3 = S. | last4 = Coccolo | first4 = F. | last5 = Akiyu | first5 = J. | last6 = Zal | first6 = B. | last7 = Houlston | first7 = R. | last8 = Levin | first8 = GE. | last9 = Baboonian | first9 = C. | title = Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy. | journal = Heart | volume = 84 | issue = 5 | pages = 541-7 | month = Nov | year = 2000 | doi = | PMID = 11040018 }}</ref> may be [[RCM]]. | |||
*[[Diabetes mellitus]] (bronze diabetes). | |||
*Arthropathy.<ref name=pmid11148720>{{Cite journal | last1 = von Kempis | first1 = J. | title = Arthropathy in hereditary hemochromatosis. | journal = Curr Opin Rheumatol | volume = 13 | issue = 1 | pages = 80-3 | month = Jan | year = 2001 | doi = | PMID = 11148720 }}</ref> | |||
Pathophysiology: | |||
*Iron overload -> [[cirrhosis]]. | |||
==Microscopic== | |||
Features: | |||
*Periportal iron deposition (early). | |||
**Late stage disease has diffuse iron deposition. | |||
*Brown granular - may vaguely look like [[lipofuscin]] on [[H&E]]. | |||
Notes: | |||
*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. | |||
DDx - secondary hemochromatosis: | |||
*[[Myelodysplastic syndrome]]. | |||
*Chronic hemolysis. | |||
*Alcoholic liver disease; iron deposition common in [[cirrhosis]]. | |||
===Images=== | |||
<gallery> | |||
Image:Hemosiderosis_high_mag.jpg | Hemosiderosis - iron stain. (WC) | |||
</gallery> | |||
www: | |||
*[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]]''. | |||
==See also== | |||
*[[Medical liver disease]]. | |||
==References== | |||
{{Reflist|2}} | |||
[[Category:Diagnosis]] | [[Category:Diagnosis]] | ||
[[Category:Medical liver disease]] | |||