Hemochromatosis primary prevention
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]
Overview
There is no primary prevention of inherited hemochormatosis. However conditions causing secondary iron load can be avoided. Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.
Primary Prevention
There is no primary prevention of inherited hemochormatosis. However conditions causing secondary iron load can be avoided. Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.
| Measurements | Asymptomatic | Symptomatic |
|---|---|---|
| Serum iron level (μg/dL) | 150-280 | 180-300 |
| Serum transferrin saturation | 45-100 | 80-100 |
| Serum ferritin level (μg/L) | Men 150-1000 | 500-6000 |
| Female 120-1000 | 500-6000 | |
| Hepatic iron concentration μg/g dry weight | 2000-10,000 | 8000-30,000 |
| Perls' Prussian blue stain | 2+ to 4+ | 3+, 4+ |
| Hepatic iron index | >1.9 | >1.9 |
Screening and diagnosis of hemochromatosis.WT, wild type; HII, histologic iron index; CII, chemical iron index; HH, hereditary hemochromatosis[1][2][3][4][5][6][7][8]
| Serum Transferin Saturation TS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| <50% premenupasal females <60% men, postmenupasal women | ≥50% premenupasal females ≥60% men, postmenupasal women | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 1 Repeat Transferin Saturation TS 2 Serum Feretin SF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat testing every 5 year | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TS:<50% premenupasal females TS: <60% men, postmenupasal women SF: 20-250μg/L premenupasal females SF: 10-120μg/L men, postmenupasal women | TS:≥50% premenupasal females TS: ≥60% men, postmenupasal women SF:>200 μg/L premenupasal females SF:>300 μg/L men, postmenupasal women | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat TS and SF every 2-3 year | Serum Feretin<1000 μg/L | Serum Feretin>1000 μg/L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Geno-typing | Liver biopsy | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WT/WT genotype | C282Y/WT genotype | C282Y/H63D genotype | C282Y/C282Y genotype | Histological iron index<0.15 Chemical iron index<2.0 | Histological iron index>0.15 Chemical iron index>2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Secondray hemochromatosis | Phelebotomy to maintain Serum Feretin | Repeat TS and SF after 2-3 year | Phelebotomy to maintain Serum Feretin | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Screen family with Transferin Saturation & Serum Feretin if atypical HH suspected | Screen family with genotyping | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Moniter Transferin Saturation & Serum Feretin in subclinical members | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
References
- ↑ Bacon BR (2012). "Hemochromatosis: discovery of the HFE gene". Mo Med. 109 (2): 133–6. PMID 22675794.
- ↑ Asia-Pacific Working Party on Prevention of Hepatocellular Carcinoma (2010). "Prevention of hepatocellular carcinoma in the Asia-Pacific region: consensus statements". J Gastroenterol Hepatol. 25 (4): 657–63. doi:10.1111/j.1440-1746.2009.06167.x. PMID 20492323.
- ↑ Adams PC (2015). "Epidemiology and diagnostic testing for hemochromatosis and iron overload". Int J Lab Hematol. 37 Suppl 1: 25–30. doi:10.1111/ijlh.12347. PMID 25976957.
- ↑ Salgia RJ, Brown K (2015). "Diagnosis and management of hereditary hemochromatosis". Clin Liver Dis. 19 (1): 187–98. doi:10.1016/j.cld.2014.09.011. PMID 25454304.
- ↑ Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.
- ↑ Adams PC, Barton JC, Guo H, Alter D, Speechley M (2015). "Serum ferritin is a biomarker for liver mortality in the Hemochromatosis and Iron Overload Screening Study". Ann Hepatol. 14 (3): 348–53. PMID 25864215.
- ↑ Adams PC, McLaren CE, Speechley M, McLaren GD, Barton JC, Eckfeldt JH (2013). "HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 µg/L". Can J Gastroenterol. 27 (7): 390–2. PMC 3956024. PMID 23862168.
- ↑ Lim A, Speechley M, Adams PC (2014). "Predicting C282Y homozygote genotype for hemochromatosis using serum ferritin and transferrin saturation values from 44,809 participants of the HEIRS study". Can J Gastroenterol Hepatol. 28 (9): 502–4. PMC 4205907. PMID 25314357.