Hemochromatosis differential diagnosis: Difference between revisions
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!Physical examination | !Physical examination | ||
!Mechanism | !Mechanism | ||
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| rowspan="4" |Increased Iron absorption | | rowspan="4" |Increased Iron absorption | ||
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* High Hepatic iron index | * High Hepatic iron index | ||
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*[[Fatigue]] | *[[Fatigue]] | ||
*Weakness | *Weakness | ||
*Weight loss | *Weight loss | ||
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* | * | ||
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* Genetic mutations that affects iron absorption | * [[Genetic mutations]] that affects [[iron]] absorption | ||
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|[[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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*[[Splenomegaly]] | *[[Splenomegaly]] | ||
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* Ineffective erythropoiesis leading to suppression of hepcidin | * Ineffective [[erythropoiesis]] leading to suppression of [[hepcidin]] | ||
* Transfusional iron overload may also contribute | * Transfusional [[iron]] overload may also contribute | ||
|- | |- | ||
|[[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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* 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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* Patient present with symptoms of [[Vitamin B6]], [[copper deficiency]] symptoms | * Patient present with symptoms of [[Vitamin B6]], [[copper deficiency]] symptoms | ||
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* Ineffective erythropoiesis leading to suppression of hepcidin | * Ineffective [[erythropoiesis]] leading to suppression of [[hepcidin]] | ||
* Increased iron recycling from the [[bone marrow]] and accumulation in the liver. | * Increased [[iron]] recycling from the [[bone marrow]] and accumulation in the liver. | ||
|- | |- | ||
| rowspan="3" |Increased Iron intake | | rowspan="3" |Increased Iron intake | ||
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* High [[transferrin saturation]] | * High [[transferrin saturation]] | ||
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*[[Fatigue]] | |||
*Weakness | |||
*Weight loss | |||
*[[Abdominal pain]] | |||
*[[Joint pain]] | |||
*Congestive [[heart failure]] | |||
*Dysfunction of certain [[endocrine organs]] | |||
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* Extra [[iron]] infusion | |||
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|[[Hemin]] infusion | |[[Hemin]] infusion | ||
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* High [[transferrin saturation]] | * High [[transferrin saturation]] | ||
| | | | ||
*[[Fatigue]] | |||
*Weakness | |||
*Weight loss | |||
*[[Abdominal pain]] | |||
*[[Joint pain]] | |||
*Congestive [[heart failure]] | |||
*Dysfunction of certain [[endocrine organs]] | |||
| | | | ||
* Extra [[iron]] infusion | |||
|- | |- | ||
|[[African iron overload]] | |[[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> | ||
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* 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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* High [[transferrin saturation]] | * High [[transferrin saturation]] | ||
| | | | ||
*[[Fatigue]] | |||
*Weakness | |||
*Weight loss | |||
*[[Abdominal pain]] | |||
*[[Joint pain]] | |||
*Congestive [[heart failure]] | |||
*Dysfunction of certain [[endocrine organs]] | |||
| | | | ||
* Increase iron absorption from the intestine | |||
|} | |} | ||
Revision as of 16:16, 19 November 2018
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Hemochromatosis Microchapters |
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Hemochromatosis differential diagnosis On the Web |
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Risk calculators and risk factors for Hemochromatosis differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
Haemochromatosis is notoriously protean, i.e., it presents with symptoms that are often initially attributed to other diseases. It is also true that most people with hereditary hemochromatosis genetics never actually show signs or suffer symptoms of clinical iron overload(i.e., is clinically silent).
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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| Increased Iron intake | Transfusional overload |
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| Hemin infusion |
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| African iron overload[15] |
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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.