Hemochromatosis overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]
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.
Hereditary hemochromatosis is the concept that known, measurable genetic mutations can be passed from generation to generation and cause iron accumulation, though not all clinical iron overload is associated with known hereditary markers, and not all hereditary markers cause significant iron overload. Semantically, therefore, the condition of a hereditary mutation in the iron metabolism genetic apparatus is not synonymous with clinical iron overload, though the term “hemochromatosis” is used to encompass both these concepts.
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Hemochromatosis from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
- ↑ Iron Overload and Hemochromatosis Centers for Disease Control and Prevention