How is HFE hereditary haemochromatosis diagnosed?

Hereditary haemochromatosis (HFE) is a genetic disorder characterized by excessive absorption of dietary iron by the body. This condition leads to iron overload, which can cause damage to various organs and tissues over time. Early diagnosis of HFE is crucial to prevent complications and manage the condition effectively.

Diagnosing HFE typically involves a combination of medical history assessment, physical examination, laboratory tests, and genetic testing. The process begins with a thorough evaluation of the patient's symptoms, family history, and risk factors for iron overload.

Medical history assessment: The healthcare provider will inquire about symptoms commonly associated with HFE, such as fatigue, joint pain, abdominal pain, and changes in skin color. They will also ask about any family history of iron overload or related conditions.

Physical examination: The healthcare provider may perform a physical examination to check for signs of iron overload, such as an enlarged liver or spleen, skin discoloration, or joint abnormalities.

Laboratory tests: Blood tests are essential for diagnosing HFE. The primary test is serum ferritin, which measures the level of stored iron in the body. Elevated serum ferritin levels can indicate iron overload. Additionally, transferrin saturation is measured to assess the percentage of iron-binding capacity in the blood. High transferrin saturation is another indicator of iron overload. Other blood tests, such as complete blood count (CBC) and liver function tests, may be conducted to evaluate the overall health of the patient and assess potential organ damage.

Genetic testing: Genetic testing is the most definitive method to diagnose HFE. It involves analyzing the HFE gene for specific mutations associated with hereditary haemochromatosis. The most common mutations are C282Y and H63D. Genetic testing can confirm the presence of these mutations and determine if an individual has inherited the condition. It is particularly useful in cases where symptoms are mild or absent but there is a strong family history of HFE.

Screening recommendations: Due to the hereditary nature of HFE, certain populations may be recommended for screening even in the absence of symptoms. These include individuals with a first-degree relative (parent, sibling, child) diagnosed with HFE, individuals of Northern European descent, and those with unexplained liver disease or diabetes. Screening typically involves genetic testing for the HFE gene mutations.

Consultation and follow-up: Once a diagnosis of HFE is confirmed, the patient is usually referred to a specialist, such as a gastroenterologist or hematologist, for further evaluation and management. The specialist will develop an individualized treatment plan based on the patient's iron levels, symptoms, and organ damage, if present. Regular follow-up appointments and monitoring of iron levels are essential to prevent complications and adjust treatment as needed.

In conclusion, diagnosing hereditary haemochromatosis involves a comprehensive approach that includes medical history assessment, physical examination, laboratory tests (such as serum ferritin and transferrin saturation), and genetic testing. Genetic testing is particularly important for confirming the presence of HFE gene mutations and establishing a definitive diagnosis. Early diagnosis and appropriate management are crucial in preventing complications associated with iron overload.