Hereditary haemochromatosis

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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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

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.

Pathophysiology

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

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

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

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.

See also

• Iron metabolism
• HFE gene
• Cirrhosis
• Diabetes mellitus
• Cardiomyopathy