Hereditary haemochromatosis: Difference between revisions
CSV import |
CSV import |
||
| Line 24: | Line 24: | ||
}} | }} | ||
{{Short description|A genetic disorder affecting iron metabolism}} | {{Short description|A genetic disorder affecting iron metabolism}} | ||
== Introduction == | |||
[[File:Iron_metabolism.svg|left|thumb|Diagram of iron metabolism in the human body]] | [[File:Iron_metabolism.svg|left|thumb|Diagram of iron metabolism in the human body]] | ||
'''Hereditary haemochromatosis''' is a genetic disorder characterized by excessive absorption and storage of dietary iron, leading to iron overload in various organs. This condition is most commonly caused by mutations in the [[HFE gene]], but other genetic mutations can also lead to similar clinical presentations. | '''Hereditary haemochromatosis''' is a genetic disorder characterized by excessive absorption and storage of dietary iron, leading to iron overload in various organs. This condition is most commonly caused by mutations in the [[HFE gene]], but other genetic mutations can also lead to similar clinical presentations. | ||
Latest revision as of 20:25, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's weight loss doctor NYC
Philadelphia GLP-1 weight loss and GLP-1 clinic NYC
| Hereditary haemochromatosis | |
|---|---|
| |
| Synonyms | Genetic haemochromatosis |
| Pronounce | |
| Specialty | Hepatology, Genetics |
| Symptoms | Fatigue (medical), joint pain, abdominal pain, diabetes, skin discoloration |
| Complications | Cirrhosis, liver cancer, heart disease, diabetes mellitus |
| Onset | Typically in adulthood |
| Duration | Chronic |
| Types | Type 1, Type 2, Type 3, Type 4 |
| Causes | Genetic mutation in the HFE gene |
| Risks | Family history, Northern European ancestry |
| Diagnosis | Blood test, liver biopsy, genetic testing |
| Differential diagnosis | Alcoholic liver disease, non-alcoholic fatty liver disease, porphyria cutanea tarda |
| Prevention | |
| Treatment | Phlebotomy, chelation therapy |
| Medication | Deferoxamine, deferasirox |
| Prognosis | Good with early treatment |
| Frequency | 1 in 200 to 1 in 400 in people of Northern European descent |
| Deaths | |
A genetic disorder affecting iron metabolism
Introduction[edit]
Hereditary haemochromatosis is a genetic disorder characterized by excessive absorption and storage of dietary iron, leading to iron overload in various organs. This condition is most commonly caused by mutations in the HFE gene, but other genetic mutations can also lead to similar clinical presentations.
Pathophysiology[edit]
In hereditary haemochromatosis, the body's ability to regulate iron absorption is impaired. Normally, the liver produces a hormone called hepcidin, which regulates iron absorption from the intestine. In individuals with hereditary haemochromatosis, hepcidin production is inadequate, leading to increased iron absorption and accumulation in tissues such as the liver, heart, and pancreas.
Clinical Manifestations[edit]
The symptoms of hereditary haemochromatosis can vary widely among individuals. Common symptoms include fatigue, joint pain, abdominal pain, and skin pigmentation changes. If left untreated, iron overload can lead to serious complications such as cirrhosis, diabetes mellitus, cardiomyopathy, and arthritis.
Diagnosis[edit]
Diagnosis of hereditary haemochromatosis typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. Blood tests may show elevated serum ferritin and transferrin saturation levels. Genetic testing can confirm mutations in the HFE gene or other related genes.
Treatment[edit]
The primary treatment for hereditary haemochromatosis is regular phlebotomy, which involves removing blood from the body to reduce iron levels. In some cases, iron chelation therapy may be used. Early diagnosis and treatment are crucial to prevent organ damage.
