Difference between revisions of "Hereditary hemochromatosis"
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[[File:1 Iron 1 680x512px.tif|Trichrome shows thin fibrous bands (20X).]] | [[File:1 Iron 1 680x512px.tif|Trichrome shows thin fibrous bands (20X).]] | ||
[[File:2 Iron 1 680x512px.tif|Iron stain shows dense iron deposition (40X).]] | [[File:2 Iron 1 680x512px.tif|Iron stain shows dense iron deposition (40X).]] | ||
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[[File:3 Iron 1 680x512px.tif|At high power, a modest inflammatory infiltrate accompanies proliferating bile ductules; no piecemeal necrosis (400X)]] | [[File:3 Iron 1 680x512px.tif|At high power, a modest inflammatory infiltrate accompanies proliferating bile ductules; no piecemeal necrosis (400X)]] | ||
[[File:4 Iron 1 1360x1024px.tif|Reticulin stain with regenerative findings, cords with two nuclei thickness, hepatic acini (400X, higher pixel photo)]] | [[File:4 Iron 1 1360x1024px.tif|Reticulin stain with regenerative findings, cords with two nuclei thickness, hepatic acini (400X, higher pixel photo)]] | ||
Revision as of 00:07, 22 July 2016
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.[1]
- 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).[2]
Associated pathology (mnemonic: hemochromatosis can cause deposits anywhere):[3][4]
- Hypogonadism.
- Cirrhosis and HCC.
- Cardiomyopathy - DCM (esp. with his63asp mutation),[5] may be RCM.
- Diabetes mellitus (bronze diabetes).
- Arthropathy.[6]
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.[7]
- 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
Hemosiderosis - iron stain. (WC)
www:
Trichrome shows thin fibrous bands (20X).Iron stain shows dense iron deposition (40X).At high power, a modest inflammatory infiltrate accompanies proliferating bile ductules; no piecemeal necrosis (400X)Reticulin stain with regenerative findings, cords with two nuclei thickness, hepatic acini (400X, higher pixel photo)Hemochromatosis with bridging fibrosis. Trichrome shows thin fibrous bands (UL 20X). Iron stain shows dense iron deposition (UR 40X). At high power, a modest inflammatory infiltrate accompanies proliferating bile ductules; no piecemeal necrosis (LL 400X). Reticulin stain with regenerative findings, cords with two nuclei thickness, hepatic acini (LR 400X, higher pixel photo).
Stains
Iron stain +ve -- important.
- Light blue haze is not enough.
- Must be separated from siderosis -- iron in Kupffer cells.
Grading
The quantity of iron is scored as follows:
- 0 = none.
- 1: only at high power.
- 2: at medium power.
- 3: at lowest power.
- 4: seen without microscope.
Molecular
- PCR - diagnostic - see molecular pathology tests.
See also
References
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 613609
- ↑ 2.0 2.1 Weinberg ED (2008). "Survival advantage of the hemochromatosis C282Y mutation". Perspect. Biol. Med. 51 (1): 98-102. doi:10.1353/pbm.2008.0001. PMID 18192769.
- ↑ URL: http://en.wikibooks.org/wiki/USMLE_Step_2_Review. Accessed on: 15 March 2012.
- ↑ Fix, OK.; Kowdley, KV. (Dec 2008). "Hereditary hemochromatosis.". Minerva Med 99 (6): 605-17. PMID 19034258.
- ↑ Mahon, NG.; Coonar, AS.; Jeffery, S.; Coccolo, F.; Akiyu, J.; Zal, B.; Houlston, R.; Levin, GE. et al. (Nov 2000). "Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy.". Heart 84 (5): 541-7. PMID 11040018.
- ↑ von Kempis, J. (Jan 2001). "Arthropathy in hereditary hemochromatosis.". Curr Opin Rheumatol 13 (1): 80-3. PMID 11148720.
- ↑ MG. 17 September 2009.