Hereditary hemochromatosis - Revision history

Mitchell: /* Images */ Added case with cirrhosis

2016-08-29T14:35:27Z

Images: Added case with cirrhosis

← Older revision		Revision as of 14:35, 29 August 2016
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	[[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)]]
	\|}		\|}
	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).		Hemochromatosis with bridging fibrosis.
			Trichrome shows thin fibrous bands (Row 1 Left 20X). Iron stain shows dense iron deposition (Row 1 Right 40X). At high power, a modest inflammatory infiltrate accompanies proliferating bile ductules; no piecemeal necrosis (Row 2 Left 400X). Reticulin stain with regenerative findings, cords with two nuclei thickness, hepatic acini (Row 2 right 400X, higher pixel photo).
			{\|
			[[File:1 Iron 2 680x512px.tif\|Fibrous bands dissect hepatocyte nodules (Row 1 Left 20X).]]
			[[File:2 Iron 2 680x512px.tif\|Iron stain shows 4+ iron, identifiable at the lowest magnification, as well by naked eye (Row 1 Right 20X)]]
			<br>
			[[File:3 Iron 2 680x512px.tif\|This nodule has occasionally enlarged nuclei, which should not be considered dysplasia in and of itself. Note associated relatively inflammation free band with proliferated bile ductules. (Row 2 Left 400X).]]
			[[File:4 Iron 2 680x512px.tif\|Reticulin stain shows two cell thick regenerative cords with sinusoidal black lines lacking orientation (Row 2 Right 400X).]]
			\|}
			Hemochromatosis with cirrhosis..
			Fibrous bands dissect hepatocyte nodules (Row 1 Left 20X). Iron stain shows 4+ iron, identifiable at the lowest magnification, as well by naked eye (Row 1 Right 20X) This nodule has occasionally enlarged nuclei, which should not be considered dysplasia in and of itself. Note associated relatively inflammation free band with proliferated bile ductules. (Row 2 Left 400X). Reticulin stain shows two cell thick regenerative cords with sinusoidal black lines lacking orientation (Row 2 Right 400X).

	==Stains==		==Stains==

Mitchell: /* Images */

2016-07-22T00:07:57Z

Images

← Older revision		Revision as of 00:07, 22 July 2016
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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).]]
			\|-
	[[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)]]

Mitchell: /* Images */added hemochromatosis with bridging fibrosis

2016-07-22T00:04:43Z

Images: added hemochromatosis with bridging fibrosis

← Older revision		Revision as of 00:04, 22 July 2016
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	www:		www:
	*[http://path.upmc.edu/cases/case77/path.html Hemochromatosis (upmc.edu)].		*[http://path.upmc.edu/cases/case77/path.html Hemochromatosis (upmc.edu)].
			{\|
			[[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: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)]]
			\|}
			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==		==Stains==
	Iron stain +ve -- '''important'''.		Iron stain +ve -- '''important'''.

Michael: /* Stains */

2014-01-17T18:27:21Z

Stains

← Older revision		Revision as of 18:27, 17 January 2014
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	**Must be separated from ''siderosis'' -- iron in Kupffer cells.		**Must be separated from ''siderosis'' -- iron in Kupffer cells.

	Grading ~~(0-4)~~:		===Grading===
			The quantity of iron is scored as follows:
	*0 = none.		*0 = none.
	*1: only at high power.		*1: only at high power.

Michael: /* Stains */

2014-01-17T18:26:50Z

Stains

← Older revision		Revision as of 18:26, 17 January 2014
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	*Light blue haze is not enough.		*Light blue haze is not enough.
	**Must be separated from ''siderosis'' -- iron in Kupffer cells.		**Must be separated from ''siderosis'' -- iron in Kupffer cells.

			Grading (0-4):
			*0 = none.
			*1: only at high power.
			*2: at medium power.
			*3: at lowest power.
			*4: seen without microscope.

	==Molecular==		==Molecular==

Michael: /* Stains */

2014-01-17T18:25:28Z

Stains

← Older revision		Revision as of 18:25, 17 January 2014
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	www:		www:
	*[http://path.upmc.edu/cases/case77/path.html Hemochromatosis (upmc.edu)].		*[http://path.upmc.edu/cases/case77/path.html Hemochromatosis (upmc.edu)].
	===Stains===		==Stains==
	Iron stain +ve -- '''important'''.		Iron stain +ve -- '''important'''.
	*Light blue haze is not enough.		*Light blue haze is not enough.

Michael: split out

2014-01-17T18:24:37Z

split out

← Older revision		Revision as of 18:24, 17 January 2014
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	~~#redirect [[Medical_liver_disease#Hereditary_hemochromatosis]]~~		'''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]]

Michael: redirect +cat.

2011-10-26T04:29:37Z

redirect +cat.

New page

#redirect [[Medical_liver_disease#Hereditary_hemochromatosis]]

[[Category:Diagnosis]]

← Older revision		Revision as of 00:07, 22 July 2016
Line 45:		Line 45:
	[[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).]]
			\|-
	[[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)]]