Hemochromatosis: Difference between revisions

	Hemochromatosis;
ICD-10	E83.1
ICD-9	275.0
OMIM	235200
DiseasesDB	5490
MeSH	[3]

	Hemochromatosis Microchapters
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Revision as of 15:25, 22 December 2017

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]

Synonyms and keywords: Haemochromatosis, Hereditary Hemochromatosis

For patient information click here

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hemochromatosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

Case #1

Related Chapters

Cirrhosis

References

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 ==[[Hemochromatosis overview|Overview]]==
-'''Hemochromatosis''' is a [[hereditary disease]] characterized by improper dietary [[iron]] [[metabolism]] (making it an [[iron overload disorder]]), which causes the accumulation of [[iron]] in a number of body tissues.<ref>[http://www.cdc.gov/ncbddd/hemochromatosis/ Iron Overload and Hemochromatosis] Centers for Disease Control and Prevention</ref> Iron accumulation can eventually cause end organ damage, most importantly in the [[pancreas]] manifesting as [[diabetes]], and [[liver]] failure.  It is estimated that roughly one in every 300-400 people are affected by the disease, primarily of Northern European and Anglo-English descent.
 ==[[Hemochromatosis historical perspective|Historical Perspective]]==
-The disease was first described in 1865 by [[Armand Trousseau]] in an article on [[Diabetes mellitus|diabetes]] in patients with changing skin color.<ref name=":0">name=Trousseau_1865>{{cite journal | author = Trousseau A| title = Glycosurie, diabète sucré | journal = Clinique médicale de l'Hôtel-Dieu de Paris | year = 1865 | volume = 2| pages = 663&ndash;98 | url= }}</ref> Trousseau did not connect the [[diabetes]] with [[iron]] accumulation; instead this was done by [[Friedrich Daniel von Recklinghausen]] in 1890.<ref name=":1">{{cite journal | author = von Recklinghausen FD | title = Hämochromatose | journal = Tageblatt der Naturforschenden Versammlung 1889 | year = 1890 | pages = 324 | url= }}</ref><ref>[http://www.whonamedit.com/doctor.cfm/1174.html Biography of Daniel von Recklinghausen]</ref> The mutation of human genome to increase iron absorption in people who are exposed to iron deficient diet is evolutionary stand point. Hemocromatosis is also known as Celtic Curse.
 ==[[Hemochromatosis classification|Classification]]==
-Hemochromatosis is divided on basis of it's etiology. Hereditary hemochromatosis is caused by defect in gene and secondary hemochromatosis is caused by excess absorption of iron, repeated blood transfusions, or excess oral intake, typically in patients with disorders of erythropoiesis.
 ==[[Hemochromatosis pathophysiology|Pathophysiology]]==
-Hemochromatosis is due to unchecked transfer of iron into the bloodstream in the absence of increased erythropoietic needs and its toxic effects in parenchymatous organs.
 ==[[Hemochromatosis causes|Causes]]==
-Hemochromatosis is due to unchecked transfer of iron into the bloodstream in the absence of increased erythropoietic needs and its toxic effects in parenchymatous organs. It can be primary as genetic or it can be secondary iron over load.
 ==[[Hemochromatosis differential diagnosis|Differentiating Hemochromatosis from other Diseases]]==
-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).
 ==[[Hemochromatosis epidemiology and demographics|Epidemiology and Demographics]]==
-Prevalence of hemochromatosis is 6 times higher in white persons than in black persons.It is often described as a "Celtic mutation"--originating in a Celtic population in central Europe and spreading west and north by population movement.
 ==[[Hemochromatosis risk factors|Risk Factors]]==
-People who inherit the HFE gene mutation from both parents are at the greatest risk for developing hemochromatosis. Although both men and women can inherit the gene defect, men are more likely to be diagnosed with the effects of hemochromatosis than women.
 ==[[Hemochromatosis screening|Screening]]==
-Routine [[screening]] of the general population for hereditary hemochromatosis, that is, by genetic testing, has been evaluated by the US Preventive Services Task Force (USPSTF), among other groups. In case-finding for hereditary hemochromatosis, serum ferritin and transferrin saturation tests should be performed. Genotyping and liver biopsy is suggested in cases which strongly suggest hemochromatosis due to high levels of serum ferritin and transferrin saturation.
 ==[[Hemochromatosis natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
-Hemochromatosis is due to unchecked transfer of iron into the bloodstream in the absence of increased erythropoietic needs and its toxic effects in parenchymatous organs.The features of Hemochromatosis are due to presence of toxic iron in pro-oxidant form in surroundings of parenchymatous tissue cells of the liver and other organs, where it can cause oxidative damage and lead to cirrhosis, hypogonadism, diabetes, cardiomyopathy, arthropathy, and skin pigmentation.
 ==Diagnosis==
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 ==Treatment==
-The treatment of hemochromatosis depends on levels of iron deposition in body tissues, symptoms and complications due to damaged organs secondary to inflammatory response towards deposition.
 [[Hemochromatosis medical therapy|Medical Therapy]] | [[Hemochromatosis surgery|Surgery]] | [[Hemochromatosis primary prevention|Primary Prevention]] | [[Hemochromatosis secondary prevention|Secondary Prevention]] | [[Hemochromatosis cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Hemochromatosis future or investigational therapies|Future or Investigational Therapies]]
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 {{Hematology}}
-[[Category:Disease]]
-[[Category:Cardiology]]
 [[Category:Gastroenterology]]
 [[Category:Hematology]]
 [[Category:Hepatology]]
-[[Category:Orthopedics]]
-[[Category:Endocrinology]]
-[[de:Hämochromatose]]
-[[es:Hemocromatosis]]
-[[fr:Hémochromatose génétique]]
-[[it:Emocromatosi]]
-[[he:המוכרומטוזיס]]
-[[nl:Hemochromatose]]
-[[no:Hemokromatose]]
-[[pl:Hemochromatoza]]
-[[pt:Hemocromatose]]
-[[fi:Hemokromatoosi]]
-[[sv:Hemakromotos]]
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Hemochromatosis
ICD-10	E83.1
ICD-9	275.0
OMIM	235200
DiseasesDB	5490
MeSH	[3]