Primary hemochromatosis

Primary Hemochromatosis is a genetic disorder characterized by excessive iron absorption in the gastrointestinal tract. It is also known as Hereditary Hemochromatosis and is one of the most common genetic disorders in the United States and Western Europe.

Etiology

Primary Hemochromatosis is caused by mutations in the HFE gene, which is located on chromosome 6. The most common mutation is C282Y, followed by H63D. These mutations lead to increased iron absorption from the diet, which over time can lead to iron overload in the body.

Pathophysiology

The HFE gene encodes a protein that regulates iron absorption in the intestines. Mutations in this gene disrupt this regulation, leading to excessive iron absorption. The excess iron is stored in various organs, particularly the liver, heart, and pancreas, where it can cause damage and dysfunction.

Clinical Manifestations

The clinical manifestations of Primary Hemochromatosis are related to the organs affected by iron overload. These can include cirrhosis of the liver, diabetes mellitus, cardiomyopathy, arthritis, and hypogonadism. Some patients may also develop a characteristic bronze skin color due to iron deposition in the skin.

Diagnosis

Diagnosis of Primary Hemochromatosis is based on clinical suspicion, laboratory testing, and genetic testing. Laboratory tests typically show elevated serum iron levels, elevated ferritin levels, and increased transferrin saturation. Genetic testing can confirm the presence of HFE gene mutations.

Treatment

The main treatment for Primary Hemochromatosis is phlebotomy, or blood removal, to reduce the body's iron stores. Other treatments may include dietary modifications and medications to reduce iron absorption.

Prognosis

With early diagnosis and treatment, the prognosis for individuals with Primary Hemochromatosis is generally good. However, if left untreated, the condition can lead to serious complications such as liver failure, heart failure, and diabetes.