What are the recommended management strategies for a patient diagnosed with hereditary haemochromatosis?

The primary management strategy for a patient diagnosed with hereditary haemochromatosis is therapeutic phlebotomy, which aims to remove excess iron from the body (Kowdley et al., 2019; European Association for the Study of the Liver, 2022). This approach is detailed in international clinical guidelines, as the provided UK guidelines (CKS) do not specifically cover the management of hereditary haemochromatosis ¹,²,³,⁴.

The management typically involves two phases:

• Induction Phase: The initial goal is to deplete iron stores until serum ferritin levels are within a target range, typically below 50 µg/L or 100 µg/L, and transferrin saturation is normalized (Kowdley et al., 2019; European Association for the Study of the Liver, 2022). During this phase, phlebotomy is performed frequently, often on a weekly basis, with the volume of blood removed adjusted according to the patient's iron status and tolerance (Kowdley et al., 2019).
• Maintenance Phase: Once iron depletion is achieved, a maintenance phase begins, involving less frequent phlebotomy sessions, typically every 2-4 months, to keep iron levels within the desired range (Kowdley et al., 2019; European Association for the Study of the Liver, 2022).

Regular monitoring of serum ferritin and transferrin saturation is crucial to guide the frequency of phlebotomy and ensure optimal iron levels are maintained (Kowdley et al., 2019; European Association for the Study of the Liver, 2022).

Dietary considerations are also important. Patients should be advised to avoid iron supplements, iron-fortified foods, and excessive alcohol consumption, particularly if there is existing liver disease (Kowdley et al., 2019). It is also recommended to avoid consuming raw shellfish due to the risk of *Vibrio vulnificus* infection (Kowdley et al., 2019). Patients should be counselled against taking vitamin C with iron-rich meals, as it enhances iron absorption (Kowdley et al., 2019).

For patients who cannot tolerate phlebotomy, iron chelation therapy may be considered, although it is a less common primary treatment for hereditary haemochromatosis (European Association for the Study of the Liver, 2022).

Long-term management also includes screening for complications such as liver fibrosis or cirrhosis, cardiomyopathy, arthropathy, and diabetes (Kowdley et al., 2019; European Association for the Study of the Liver, 2022). Additionally, family screening for haemochromatosis is recommended for first-degree relatives of affected individuals (Kowdley et al., 2019; European Association for the Study of the Liver, 2022).