From the Guidelines
The management plan for a patient with haemochromatosis, elevated liver function tests, and a ferritin level of 131 should focus on monitoring rather than immediate therapeutic phlebotomy. Since the ferritin level is actually within a range that may not necessitate immediate intervention, especially considering the latest guidelines from the EASL clinical practice guidelines on haemochromatosis 1, which suggest a target ferritin level of 50-100 lg/L for maintenance, the current level of 131, while slightly above this range, does not strongly indicate the need for phlebotomy without other clinical considerations. The patient should undergo regular monitoring of ferritin levels and transferrin saturation every 3-6 months to detect any rise that would warrant intervention, as suggested by various guidelines including those from the American Association for the Study of Liver Diseases 1. Further evaluation of the elevated liver function tests is necessary through additional testing to determine if they are related to early haemochromatosis or another liver condition. This should include a complete hepatic panel, abdominal ultrasound, and possibly testing for other causes of liver dysfunction such as viral hepatitis, alcohol-related liver disease, or non-alcoholic fatty liver disease. Genetic testing confirmation of HFE gene mutations (C282Y, H63D) should be performed if not already done to confirm the haemochromatosis diagnosis, as these mutations are commonly associated with hereditary haemochromatosis. Lifestyle modifications are important, including limiting alcohol consumption, avoiding iron supplements and vitamin C with meals (which enhances iron absorption), and maintaining a healthy diet and weight, as recommended by recent guidelines 1. Family screening should be recommended for first-degree relatives, given the genetic nature of the disease. The rationale for this approach is that haemochromatosis management is based on iron burden, and with a ferritin level of 131, which is not significantly elevated, iron overload is not currently a major concern despite the genetic predisposition.
From the Research
Management Plan for Haemochromatosis Patient with Deranged LFTs and Elevated Ferritin
- The patient's elevated ferritin level of 131 and deranged liver function tests (LFTs) indicate iron overload, which is a common complication of haemochromatosis 2, 3.
- Phlebotomy is the standard treatment for haemochromatosis, but it may not be suitable for all patients, especially those with chronic anemia or other medical conditions that prevent blood removal 4, 5.
- Iron chelation therapy with deferasirox has been shown to be effective in reducing ferritin levels and improving iron overload in patients with haemochromatosis, including those who are not suitable for phlebotomy 2, 3.
- Desferrioxamine is another iron chelator that has been used to treat iron overload in haemochromatosis patients, particularly in cases where phlebotomy is not possible 5.
- Monitoring of liver iron concentration and serum ferritin levels is essential to assess the effectiveness of treatment and prevent over-chelation 3, 6.
- Patient compliance with phlebotomy therapy is crucial to achieve iron depletion and maintain serum ferritin levels within a safe range, with regular follow-up and monitoring to ensure adherence to treatment 4.