Hemochromatosis differential diagnosis: Difference between revisions
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==Overview== | ==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). | 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== | ==Differentiating Hemochromatosis from other Diseases== | ||
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|+Different causes of iron overload | |+Different causes of iron overload | ||
!Category | !Category | ||
! | !Disorder | ||
!Etiology | !Etiology | ||
!Laboratory abnormalities | !Laboratory abnormalities | ||
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| rowspan=" | | rowspan="4" |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> | ||
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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> | ||
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*[[Genetic defect]] with alpha- or [[beta-globin]] production | *[[Genetic defect]] with alpha- or [[beta-globin]] production | ||
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*Microcytic hypochromic anemia | *Microcytic hypochromic anemia | ||
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*[[Irritability]] | |||
*[[Growth retardation]] | |||
*[[Jaundice]] | |||
*[[Hepatomegaly]] | |||
*[[Splenomegaly]] | |||
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*[[Blood transfusion|Transfusion]] support | |||
*[[Iron]] chelation | |||
*[[Gene therapy]] if available | |||
*Patient education and genetic counseling | |||
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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 | ||
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|[[Chronic liver disease]] | |||
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* [[Alcoholic liver disease]] | |||
* [[Chronic hepatitis]] | |||
* [[Non-alcoholic fatty liver disease|Non-alcoholic fatty liver disease (NAFLD)]] | |||
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* Reduced hepcidin production | * Reduced hepcidin production | ||
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|[[Sideroblastic anemia]] | |||
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| rowspan="3" |Increased Iron intake | | rowspan="3" |Increased Iron intake | ||
|[[Transfusional iron overload|Transfusional overload]] | |||
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|[[Hemin]] infusion | |||
* Treat [[acute intermittent porphyria]] | * Treat [[acute intermittent porphyria]] | ||
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|[[African iron overload]] | |||
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Revision as of 14:41, 7 November 2018
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Hemochromatosis Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Hemochromatosis differential diagnosis On the Web |
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American Roentgen Ray Society Images of Hemochromatosis differential diagnosis |
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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 | Treatment | Mechanism | |
|---|---|---|---|---|---|---|---|
| Increased Iron absorption | Hemochromatosis[1] |
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| Thalassemia[2] |
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| Chronic liver disease |
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| Sideroblastic anemia |
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| Increased Iron intake | Transfusional overload | ||||||
| Hemin infusion | |||||||
| African iron overload |
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.[4]
- 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
- ↑ 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.
- ↑ 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.