Hemochromatosis: Difference between revisions
Sunny Kumar (talk | contribs) No edit summary |
Sunny Kumar (talk | contribs) |
||
| Line 20: | Line 20: | ||
==[[Hemochromatosis overview|Overview]]== | ==[[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]]== | ==[[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 = 663–98 | 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 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 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 causes|Causes]]== | ||
| Line 40: | Line 44: | ||
==Diagnosis== | ==Diagnosis== | ||
[[Hemochromatosis history and symptoms|History and Symptoms]] | [[Hemochromatosis physical examination|Physical Examination]] | [[Hemochromatosis laboratory findings|Laboratory Findings]] | [[Hemochromatosis electrocardiogram|Electrocardiogram]] | [[Hemochromatosis x ray|X Ray]] | [[Hemochromatosis CT|CT]] | [[Hemochromatosis MRI|MRI]] | [[Hemochromatosis echocardiography or ultrasound|Echocardiography or Ultrasound ]] | [[Hemochromatosis other imaging findings|Other Imaging Findings]] | [[Hemochromatosis other diagnostic studies|Other Diagnostic Studies]] | [[Hemochromatosis history and symptoms|History and Symptoms]] | [[Hemochromatosis physical examination|Physical Examination]] | [[Hemochromatosis laboratory findings|Laboratory Findings]] | [[Hemochromatosis electrocardiogram|Electrocardiogram]] | [[Hemochromatosis x ray|X Ray]] | [[Hemochromatosis CT|CT]] | [[Hemochromatosis MRI|MRI]] | [[Hemochromatosis echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Hemochromatosis other imaging findings|Other Imaging Findings]] | [[Hemochromatosis other diagnostic studies|Other Diagnostic Studies]] | ||
==Treatment== | ==Treatment== | ||
Revision as of 19:03, 4 December 2017
|
Hemochromatosis Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Hemochromatosis On the Web |
|
American Roentgen Ray Society Images of Hemochromatosis |
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
| Hemochromatosis | ||
| ICD-10 | E83.1 | |
|---|---|---|
| ICD-9 | 275.0 | |
| OMIM | 235200 | |
| DiseasesDB | 5490 | |
| MeSH | [3] | |
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.[1] 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.
Historical Perspective
The disease was first described in 1865 by Armand Trousseau in an article on diabetes in patients with changing skin color.[2] Trousseau did not connect the diabetes with iron accumulation; instead this was done by Friedrich Daniel von Recklinghausen in 1890.[3][4] 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.
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.
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.
Causes
Differentiating Hemochromatosis from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
Related Chapters
References
- ↑ Iron Overload and Hemochromatosis Centers for Disease Control and Prevention
- ↑ name=Trousseau_1865>Trousseau A (1865). "Glycosurie, diabète sucré". Clinique médicale de l'Hôtel-Dieu de Paris. 2: 663&ndash, 98.
- ↑ von Recklinghausen FD (1890). "Hämochromatose". Tageblatt der Naturforschenden Versammlung 1889: 324.
- ↑ Biography of Daniel von Recklinghausen
de:Hämochromatose it:Emocromatosi he:המוכרומטוזיס nl:Hemochromatose no:Hemokromatose fi:Hemokromatoosi sv:Hemakromotos