Hemochromatosis

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Hemochromatosis Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hemochromatosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

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Case #1

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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

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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

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.

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).

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.

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.

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.

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

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

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.

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Related Chapters

References

  1. Iron Overload and Hemochromatosis Centers for Disease Control and Prevention
  2. name=Trousseau_1865>Trousseau A (1865). "Glycosurie, diabète sucré". Clinique médicale de l'Hôtel-Dieu de Paris. 2: 663–98. 
  3. von Recklinghausen FD (1890). "Hämochromatose". Tageblatt der Naturforschenden Versammlung 1889: 324. 
  4. Biography of Daniel von Recklinghausen
de:Hämochromatoseit:Emocromatosi

he:המוכרומטוזיס nl:Hemochromatose no:Hemokromatosefi:Hemokromatoosi sv:Hemakromotos



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