Treatment

Phlebotomy is the mainstay of treatment in patients with homozygous hereditary hemochromatosis and evidence of iron overload

• the aim is to keep blood ferritin values <50-100 μg/L
• it is indicated in all patients with ferritin values >1000 μg/L.
  • a meta analysis has reported that levels more than 1000 μg/L may result in liver cirrhosis
  • initially carried out once a week or fortnightly
• with moderately raised ferritin levels (200-1000 μg/L), initiation of phlebotomy depends on patient preference and clinical judgment
• C282Y homozygotes without evidence for iron overload could be monitored annually and treatment instituted when the ferritin rises above normal
• 400-500 mL is usually removed (which depletes 200-250 g of iron)
  • the volume and frequency may be adjusted according to the degree of iron overload and baseline haemoglobin values.
• haemoglobin and ferritin levels must be monitored regularly
  • maintenance phlebotomy should be arranged when ferritin levels drops to 50-100 μg/L – usually every two to four months
• before the initiation of phlebotomy, patients with HFE-HC should be assessed for complications including diabetes mellitus, joint disease, endocrine deficiency (hypothyroidism), cardiac disease, porphyria cutanea tarda, and osteoporosis
• phlebotomy has been shown to prevent further tissue damage, decreased fatigue, improved skin hyperpigmentation, and reduced early hepatic fibrosis and left ventricular dysfunction
  • there is usually no improvement in arthropathy and testicular atrophy after phlebotomy
  • the risk of hepatocellular carcinoma is not decreased after adequate phlebotomy in patients with cirrhosis, hence screening for hepatocellular carcinoma must continue
• dietary iron restriction is not necessary when undergoing phlebotomy
  • iron and vitamin C supplementation should be avoided
• alcohol restriction is also advised. Due to the increased risk of infection with Vibrio vulnificus, uncooked seafood should be avoided
• to minimize the risk of additional complications, patients with HFE-HC could be immunized against hepatitis A and B while iron overloaded
• vigorous physical activity should be avoided for 24 h after phlebotomy (1,2,3,4)

Iron chelation therapy can be used as a second line option in patients who are intolerant of phlebotomy.

• deferoxamine or deferasirox is used
• clinical data on their use in hereditary haemochromatosis are limited (1,2,3,4,5,6)

Reference:

• (1) Mohamed M, Phillips J. Hereditary haemochromatosis. BMJ. 2016;353:i3128.
• (2) van Bokhoven MA, van Deursen CT, Swinkels DW. Diagnosis and management of hereditary haemochromatosis. BMJ. 2011;342:c7251http://www.bmj.com/content/342/bmj.c7251
• (3) Crownover BK, Covey CJ. Hereditary hemochromatosis. Am Fam Physician. 2013;87(3):183-90.
• (4) European Association for the Study of the Liver. EASL Clinical Practice Guidelines for HFE Hemochromatosis. J Hepatol 2010 Jul;53(1):3-22.
• (5) Kowdley KV, Brown KE, Ahn J, et al. ACG Clinical Guideline: Hereditary Hemochromatosis. Am J Gastroenterol 2019;114(8):1202-18. doi: 10.14309/ajg.0000000000000315 [published Online First: 2019/07/25]
• (6) Fitzsimons EJ, Cullis JO, Thomas DW, et al. Diagnosis and therapy of genetic haemochromatosis (review and 2017 update). Br J Haematol 2018;181(3):293-303. doi: 10.1111/bjh.15164 [published Online First: 2018/04/18