Hemochromatosis medical therapy
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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
The treatment of hemochromatosis depends on levels of iron deposition in body tissues, symptoms and complications due to damaged organs secondary to inflammatory response towards deposition.
Medical Therapy
- Treatment is initiated when ferritin levels reach 300 micrograms per litre (or 200 in nonpregnant premenopausal women).
- Treatment of organ damage (heart failure with diuretics and ACE inhibitor therapy).
- Limiting intake of alcoholic beverages, vitamin C (increases iron absorption in the gut), red meat (high in iron) and potential causes of food poisoning (shellfish, seafood).
- Increasing intake of substances that inhibit iron absorption, such as high-tannin tea, calcium, and foods containing oxalic and phytic acids (these must be consumed at the same time as the iron-containing foods in order to be effective.
Following are the recommendations for treating hemochromatosis according to American Association for the Study of Liver Diseases:
Phlebotomy is recommended option for the patients with iron over load weather they are symptomatic or not.[1][2][3][4]
1 Starting therapeutic phlebotomy: Staring blood removal till iron level gets normal.
- 1.1 Asymptomatic hemochromatosis:
- Preferred regime: 1 unit of blood (about 473 mL or 1 pint) is removed per week
- Alternative regime: 0.5 to 2 units of blood can often be removed from men, whereas it may be possible to remove only 0.5 units of blood from women or frail or elderly patients with other medical problems
- 1.2 Symptomatic patients with end-organ damage hemochromatosis:
- 1.3 Preferred regime: 1 unit of blood (about 473 mL or 1 pint) is removed per week
- 1.4 Stop frequent phlebotomy when serum ferritin reaches 50-100 μg/L
2 Maintenance phlebotomy: When serum ferritin levels in the range of 50 to 100 ng/mL
- 2.1 Preferred regime: Removing 1 unit of blood (about 473 mL or 1 pint) is removed per 2 months
- 2.2 Alternative regime: Removing 1 unit of blood (about 473 mL or 1 pint) is removed per 4 months
- 2.3 Check serum ferritin level every 10-12 phlebotomies
3 Dietary restrictions:
- 3.1 Preferred regime: No restrictions.
- 3.2 Alternative regime: avoid iron supplements, avoid vitamin C supplements, avoid alcohol completely
4 Non-HEF hemochromaosis:
- 4.1 Preferred regime: 1 unit of blood (about 473 mL or 1 pint) is removed per week
- 4.2 Alternative regime: In HIC is normal then follow dietary restrictions.
5 Secondary Iron Overload:
- 5.1 Dyserythropoietic syndromes:
- 5.1.1 Preferred regimen: Deferoxamine (Desferal) at a dose of 20-40 mg/kg body weight per day
- 5.1.2 Alternative regime: Deferasirox (Exjade) given orally
- 5.2 chronic hemolytic anemia:
- 5.2.1 Preferred regimen: Deferoxamine at a dose of 20-40 mg/kg body weight per day
- 5.2.2 Alternative regime: Deferasirox given orally
- 5.3 Liver Biopsy
- 5.3.1: Liver biopsy for evaluation not required.
- 5.3.2: Consider follow-up liver biopsy to ascertain adequacy of iron removal.
Screening and diagnosis of hemochromatosis.WT, wild type; HII, histologic iron index; CII, chemical iron index; HH, hereditary hemochromatosis[5][6][7][8][9][10][11][12]
| 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
- ↑ Adams PC, Speechley M, Kertesz AE (1991). "Long-term survival analysis in hereditary hemochromatosis". Gastroenterology. 101 (2): 368–72. PMID 2065912.
- ↑ Niederau C, Fischer R, Pürschel A, Stremmel W, Häussinger D, Strohmeyer G (1996). "Long-term survival in patients with hereditary hemochromatosis". Gastroenterology. 110 (4): 1107–19. PMID 8613000.
- ↑ Falize L, Guillygomarc'h A, Perrin M, Lainé F, Guyader D, Brissot P; et al. (2006). "Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases". Hepatology. 44 (2): 472–7. doi:10.1002/hep.21260. PMID 16871557.
- ↑ Adams PC, Deugnier Y, Moirand R, Brissot P (1997). "The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis". Hepatology. 25 (1): 162–6. doi:10.1002/hep.510250130. PMID 8985284.
- ↑ 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.