Hemochromatosis differential diagnosis: Difference between revisions
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==Overview== | ==Overview== | ||
Haemochromatosis should be differentiate from other disorders with iron overload. | Haemochromatosis should be differentiate from other disorders with iron overload. Iron overload can be sue to iron absorption, or iron overload. Diseases in this category are: hemochromatosis, thalassemia, chronic liver disease, sidroblastic anemia, | ||
==Differentiating Hemochromatosis from other Diseases== | ==Differentiating Hemochromatosis from other Diseases== | ||
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{| class="wikitable" align="center" style="border: 0px; font-size: 90%; margin: 3px;" | {| class="wikitable" align="center" style="border: 0px; font-size: 90%; margin: 3px;" | ||
|+Different causes of iron overload | |+Different causes of iron overload | ||
!align="center" style="background:#4479BA; color: #FFFFFF;" + |Category | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Category | ||
!align="center" style="background:#4479BA; color: #FFFFFF;" + |Disorder | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Disorder | ||
!align="center" style="background:#4479BA; color: #FFFFFF;" + |Etiology | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Etiology | ||
!align="center" style="background:#4479BA; color: #FFFFFF;" + |Laboratory abnormalities | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Laboratory abnormalities | ||
!align="center" style="background:#4479BA; color: #FFFFFF;" + |Physical examination | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Physical examination | ||
!align="center" style="background:#4479BA; color: #FFFFFF;" + |Mechanism | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |Mechanism | ||
|- | |- | ||
| rowspan="5" align="center" style="padding: 5px 5px; background: #DCDCDC;" |Increased Iron absorption | | rowspan="5" align="center" style="padding: 5px 5px; background: #DCDCDC;" |'''Increased Iron absorption''' | ||
|Hemochromatosis<ref>[http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm Hemochromatosis-Diagnosis] National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services</ref><ref name="pmid234187622">{{cite journal| author=Crownover BK, Covey CJ| title=Hereditary hemochromatosis. | journal=Am Fam Physician | year= 2013 | volume= 87 | issue= 3 | pages= 183-90 | pmid=23418762 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23418762 }}</ref><ref name="Nielsen_1995">{{cite journal |author=Nielsen J, Jensen L, Krabbe K |title=Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome |journal=J Neurol Neurosurg Psychiatry |volume=59 |issue=3 |pages=318-21 |year=1995 |pmid=7673967}}</ref><ref name="Costello_2004">{{cite journal |author=Costello D, Walsh S, Harrington H, Walsh C |title=Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series |journal=J Neurol Neurosurg Psychiatry |volume=75 |issue=4 |pages=631-3 |year=2004 |pmid=15026513}}</ref><ref name="pmid25454304">{{cite journal| author=Salgia RJ, Brown K| title=Diagnosis and management of hereditary hemochromatosis. | journal=Clin Liver Dis | year= 2015 | volume= 19 | issue= 1 | pages= 187-98 | pmid=25454304 | doi=10.1016/j.cld.2014.09.011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25454304 }}</ref> | |'''Hemochromatosis'''<ref>[http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm Hemochromatosis-Diagnosis] National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services</ref><ref name="pmid234187622">{{cite journal| author=Crownover BK, Covey CJ| title=Hereditary hemochromatosis. | journal=Am Fam Physician | year= 2013 | volume= 87 | issue= 3 | pages= 183-90 | pmid=23418762 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23418762 }}</ref><ref name="Nielsen_1995">{{cite journal |author=Nielsen J, Jensen L, Krabbe K |title=Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome |journal=J Neurol Neurosurg Psychiatry |volume=59 |issue=3 |pages=318-21 |year=1995 |pmid=7673967}}</ref><ref name="Costello_2004">{{cite journal |author=Costello D, Walsh S, Harrington H, Walsh C |title=Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series |journal=J Neurol Neurosurg Psychiatry |volume=75 |issue=4 |pages=631-3 |year=2004 |pmid=15026513}}</ref><ref name="pmid25454304">{{cite journal| author=Salgia RJ, Brown K| title=Diagnosis and management of hereditary hemochromatosis. | journal=Clin Liver Dis | year= 2015 | volume= 19 | issue= 1 | pages= 187-98 | pmid=25454304 | doi=10.1016/j.cld.2014.09.011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25454304 }}</ref> | ||
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* Mutated [[HFE (gene)|HFE gene]] | * Mutated [[HFE (gene)|HFE gene]] | ||
| Line 48: | Line 48: | ||
* [[Genetic mutations]] that affects [[iron]] absorption | * [[Genetic mutations]] that affects [[iron]] absorption | ||
|- | |- | ||
|[[Thalassemia]]<ref name="pmid23028133">{{cite journal| author=Gibbons RJ| title=α-Thalassemia, mental retardation, and myelodysplastic syndrome. | journal=Cold Spring Harb Perspect Med | year= 2012 | volume= 2 | issue= 10 | pages= | pmid=23028133 | doi=10.1101/cshperspect.a011759 | pmc=3475406 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23028133 }}</ref> | |'''[[Thalassemia]]<ref name="pmid23028133">{{cite journal| author=Gibbons RJ| title=α-Thalassemia, mental retardation, and myelodysplastic syndrome. | journal=Cold Spring Harb Perspect Med | year= 2012 | volume= 2 | issue= 10 | pages= | pmid=23028133 | doi=10.1101/cshperspect.a011759 | pmc=3475406 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23028133 }}</ref>''' | ||
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*[[Genetic defect]] with alpha- or [[beta-globin]] production | *[[Genetic defect]] with alpha- or [[beta-globin]] production | ||
| Line 67: | Line 67: | ||
* Transfusional [[iron]] overload may also contribute | * Transfusional [[iron]] overload may also contribute | ||
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|[[Chronic liver disease]]<ref name="pmid25548474">{{cite journal |vauthors=Ceni E, Mello T, Galli A |title=Pathogenesis of alcoholic liver disease: role of oxidative metabolism |journal=World J. Gastroenterol. |volume=20 |issue=47 |pages=17756–72 |year=2014 |pmid=25548474 |pmc=4273126 |doi=10.3748/wjg.v20.i47.17756 |url=}}</ref><ref name="pmid25920088">{{cite journal |vauthors=Mathurin P, Bataller R |title=Trends in the management and burden of alcoholic liver disease |journal=J. Hepatol. |volume=62 |issue=1 Suppl |pages=S38–46 |year=2015 |pmid=25920088 |pmc=5013530 |doi=10.1016/j.jhep.2015.03.006 |url=}}</ref><ref name="pmid19553649">{{cite journal |vauthors=Lucey MR, Mathurin P, Morgan TR |title=Alcoholic hepatitis |journal=N. Engl. J. Med. |volume=360 |issue=26 |pages=2758–69 |year=2009 |pmid=19553649 |doi=10.1056/NEJMra0805786 |url=}}</ref><ref name="pmid27834478">{{cite journal |vauthors=Datz C, Müller E, Aigner E |title=Iron overload and non-alcoholic fatty liver disease |journal=Minerva Endocrinol. |volume=42 |issue=2 |pages=173–183 |date=June 2017 |pmid=27834478 |doi=10.23736/S0391-1977.16.02565-7 |url=}}</ref> | |'''[[Chronic liver disease]]<ref name="pmid25548474">{{cite journal |vauthors=Ceni E, Mello T, Galli A |title=Pathogenesis of alcoholic liver disease: role of oxidative metabolism |journal=World J. Gastroenterol. |volume=20 |issue=47 |pages=17756–72 |year=2014 |pmid=25548474 |pmc=4273126 |doi=10.3748/wjg.v20.i47.17756 |url=}}</ref><ref name="pmid25920088">{{cite journal |vauthors=Mathurin P, Bataller R |title=Trends in the management and burden of alcoholic liver disease |journal=J. Hepatol. |volume=62 |issue=1 Suppl |pages=S38–46 |year=2015 |pmid=25920088 |pmc=5013530 |doi=10.1016/j.jhep.2015.03.006 |url=}}</ref><ref name="pmid19553649">{{cite journal |vauthors=Lucey MR, Mathurin P, Morgan TR |title=Alcoholic hepatitis |journal=N. Engl. J. Med. |volume=360 |issue=26 |pages=2758–69 |year=2009 |pmid=19553649 |doi=10.1056/NEJMra0805786 |url=}}</ref><ref name="pmid27834478">{{cite journal |vauthors=Datz C, Müller E, Aigner E |title=Iron overload and non-alcoholic fatty liver disease |journal=Minerva Endocrinol. |volume=42 |issue=2 |pages=173–183 |date=June 2017 |pmid=27834478 |doi=10.23736/S0391-1977.16.02565-7 |url=}}</ref>''' | ||
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* [[Alcoholic liver disease]] | * [[Alcoholic liver disease]] | ||
| Line 91: | Line 91: | ||
* Reduced [[hepcidin]] production | * Reduced [[hepcidin]] production | ||
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|[[Sideroblastic anemia]]<ref name="pmid21632840">{{cite journal |vauthors=Cazzola M, Invernizzi R |title=Ring sideroblasts and sideroblastic anemias |journal=Haematologica |volume=96 |issue=6 |pages=789–92 |date=June 2011 |pmid=21632840 |pmc=3105636 |doi=10.3324/haematol.2011.044628 |url=}}</ref><ref name="pmid25064706">{{cite journal |vauthors=Bottomley SS, Fleming MD |title=Sideroblastic anemia: diagnosis and management |journal=Hematol. Oncol. Clin. North Am. |volume=28 |issue=4 |pages=653–70, v |date=August 2014 |pmid=25064706 |doi=10.1016/j.hoc.2014.04.008 |url=}}</ref><ref name="pmid29787825">{{cite journal |vauthors=Long Z, Li H, Du Y, Han B |title=Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology |journal=Gene |volume=668 |issue= |pages=182–189 |date=August 2018 |pmid=29787825 |doi=10.1016/j.gene.2018.05.074 |url=}}</ref> | |'''[[Sideroblastic anemia]]<ref name="pmid21632840">{{cite journal |vauthors=Cazzola M, Invernizzi R |title=Ring sideroblasts and sideroblastic anemias |journal=Haematologica |volume=96 |issue=6 |pages=789–92 |date=June 2011 |pmid=21632840 |pmc=3105636 |doi=10.3324/haematol.2011.044628 |url=}}</ref><ref name="pmid25064706">{{cite journal |vauthors=Bottomley SS, Fleming MD |title=Sideroblastic anemia: diagnosis and management |journal=Hematol. Oncol. Clin. North Am. |volume=28 |issue=4 |pages=653–70, v |date=August 2014 |pmid=25064706 |doi=10.1016/j.hoc.2014.04.008 |url=}}</ref><ref name="pmid29787825">{{cite journal |vauthors=Long Z, Li H, Du Y, Han B |title=Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology |journal=Gene |volume=668 |issue= |pages=182–189 |date=August 2018 |pmid=29787825 |doi=10.1016/j.gene.2018.05.074 |url=}}</ref>''' | ||
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* [[Alcoholism]] | * [[Alcoholism]] | ||
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* Increased [[iron]] recycling from the [[bone marrow]] and accumulation in the liver. | * Increased [[iron]] recycling from the [[bone marrow]] and accumulation in the liver. | ||
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|[[African iron overload]]<ref name="pmid12382201">{{cite journal |vauthors=Gordeuk VR |title=African iron overload |journal=Semin. Hematol. |volume=39 |issue=4 |pages=263–9 |date=October 2002 |pmid=12382201 |doi= |url=}}</ref> | |'''[[African iron overload]]<ref name="pmid12382201">{{cite journal |vauthors=Gordeuk VR |title=African iron overload |journal=Semin. Hematol. |volume=39 |issue=4 |pages=263–9 |date=October 2002 |pmid=12382201 |doi= |url=}}</ref>''' | ||
|Gene [[polymorphism (biology)|polymorphism]] in the gene for [[ferroportin]] which predisposes some people of African descent to iron overload | |Gene [[polymorphism (biology)|polymorphism]] in the gene for [[ferroportin]] which predisposes some people of African descent to iron overload | ||
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| Line 136: | Line 136: | ||
|Increase [[iron]] absorption from intestine | |Increase [[iron]] absorption from intestine | ||
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| rowspan="2" align="center" style="padding: 5px 5px; background: #DCDCDC;" |Increased Iron intake | | rowspan="2" align="center" style="padding: 5px 5px; background: #DCDCDC;" |'''Increased Iron intake''' | ||
|[[Transfusional iron overload|Transfusional overload]] | |[[Transfusional iron overload|'''Transfusional overload''']] | ||
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* Recurrent blood transfusion for any reason | * Recurrent blood transfusion for any reason | ||
| Line 156: | Line 156: | ||
* Extra [[iron]] infusion | * Extra [[iron]] infusion | ||
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|[[Hemin]] infusion | |'''[[Hemin]] infusion''' | ||
* Treat [[acute intermittent porphyria]] | * Treat [[acute intermittent porphyria]] | ||
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Revision as of 18:03, 19 November 2018
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Hemochromatosis Microchapters |
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Hemochromatosis differential diagnosis On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
Haemochromatosis should be differentiate from other disorders with iron overload. Iron overload can be sue to iron absorption, or iron overload. Diseases in this category are: hemochromatosis, thalassemia, chronic liver disease, sidroblastic anemia,
Differentiating Hemochromatosis from other Diseases
| Category | Disorder | Etiology | Laboratory abnormalities | Physical examination | Mechanism |
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| Increased Iron absorption | Hemochromatosis[1][2][3][4][5] |
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| Thalassemia[6] |
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| Chronic liver disease[8][9][10][11] |
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| Sideroblastic anemia[12][13][14] |
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| African iron overload[15] | Gene polymorphism in the gene for ferroportin which predisposes some people of African descent to iron overload |
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Insert paragraph
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Increase iron absorption from intestine | |
| Increased Iron intake | Transfusional overload |
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| Hemin infusion |
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There exist other causes of excess iron accumulation, which have to be considered before Haemochromatosis is diagnosed.
- African iron overload, formerly known as Bantu siderosis, was first observed among people of African descent in Southern Africa. Originally, this was blamed on ungalvanised barrels used to store home-made beer, which led to increased oxidation and increased iron levels in the beer. Further investigation has shown that only some people drinking this sort of beer get an iron overload syndrome, and that a similar syndrome occurred in people of African descent who have had no contact with this kind of beer (e.g., African Americans). This led investigators to the discovery of a gene polymorphism in the gene for ferroportin which predisposes some people of African descent to iron overload.[16]
- Transfusion hemosiderosis is the accumulation of iron, mainly in the liver, in patients who receive frequent blood transfusions (such as those with thalassemia).
- Dyserythropoeisis, also known as myelodysplastic syndrome is a disorder in the production of red blood cells. This leads to increased iron recycling from the bone marrow and accumulation in the liver.
Early signs may mimic other diseases. Stiff joints, diabetes, and fatigue, for example, are common in haemochromatosis and other maladies.
References
- ↑ Hemochromatosis-Diagnosis National Digestive Diseases Information Clearinghouse, National Institutes of Health, U.S. Department of Health and Human Services
- ↑ Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.
- ↑ Nielsen J, Jensen L, Krabbe K (1995). "Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome". J Neurol Neurosurg Psychiatry. 59 (3): 318–21. PMID 7673967.
- ↑ Costello D, Walsh S, Harrington H, Walsh C (2004). "Concurrent hereditary haemochromatosis and idiopathic Parkinson's disease: a case report series". J Neurol Neurosurg Psychiatry. 75 (4): 631–3. PMID 15026513.
- ↑ Salgia RJ, Brown K (2015). "Diagnosis and management of hereditary hemochromatosis". Clin Liver Dis. 19 (1): 187–98. doi:10.1016/j.cld.2014.09.011. PMID 25454304.
- ↑ Gibbons RJ (2012). "α-Thalassemia, mental retardation, and myelodysplastic syndrome". Cold Spring Harb Perspect Med. 2 (10). doi:10.1101/cshperspect.a011759. PMC 3475406. PMID 23028133.
- ↑ Chui DH, Cunningham MJ, Luo HY, Wolfe LC, Neufeld EJ, Steinberg MH (2006). "Screening and counseling for thalassemia". Blood. 107 (4): 1735–7. doi:10.1182/blood-2005-09-3557. PMC 1895412. PMID 16461765.
- ↑ Ceni E, Mello T, Galli A (2014). "Pathogenesis of alcoholic liver disease: role of oxidative metabolism". World J. Gastroenterol. 20 (47): 17756–72. doi:10.3748/wjg.v20.i47.17756. PMC 4273126. PMID 25548474.
- ↑ Mathurin P, Bataller R (2015). "Trends in the management and burden of alcoholic liver disease". J. Hepatol. 62 (1 Suppl): S38–46. doi:10.1016/j.jhep.2015.03.006. PMC 5013530. PMID 25920088.
- ↑ Lucey MR, Mathurin P, Morgan TR (2009). "Alcoholic hepatitis". N. Engl. J. Med. 360 (26): 2758–69. doi:10.1056/NEJMra0805786. PMID 19553649.
- ↑ Datz C, Müller E, Aigner E (June 2017). "Iron overload and non-alcoholic fatty liver disease". Minerva Endocrinol. 42 (2): 173–183. doi:10.23736/S0391-1977.16.02565-7. PMID 27834478.
- ↑ Cazzola M, Invernizzi R (June 2011). "Ring sideroblasts and sideroblastic anemias". Haematologica. 96 (6): 789–92. doi:10.3324/haematol.2011.044628. PMC 3105636. PMID 21632840.
- ↑ Bottomley SS, Fleming MD (August 2014). "Sideroblastic anemia: diagnosis and management". Hematol. Oncol. Clin. North Am. 28 (4): 653–70, v. doi:10.1016/j.hoc.2014.04.008. PMID 25064706.
- ↑ Long Z, Li H, Du Y, Han B (August 2018). "Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology". Gene. 668: 182–189. doi:10.1016/j.gene.2018.05.074. PMID 29787825.
- ↑ Gordeuk VR (October 2002). "African iron overload". Semin. Hematol. 39 (4): 263–9. PMID 12382201.
- ↑ Gordeuk V, Caleffi A, Corradini E, Ferrara F, Jones R, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo I, Gomo Z, Moyo V, Rouault T, MacPhail P, Pietrangelo A (2003). "Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene". Blood Cells Mol Dis. 31 (3): 299–304. PMID 14636642.