HEREDITARY HEMOCHROMATOSIS (CASE REPORT)
- Authors: Voloshina N.B1, Venzhina Y.Y.2, Kazakova N.L2, Voloshina I.O3
-
Affiliations:
- Novosibirsk State Medical University
- Novosibirsk City Clinical Hospital №.12
- Center of New Medical Technologies, Novosibirsk
- Issue: No 5S (2017)
- Pages: 100-103
- Section: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/294397
- ID: 294397
Cite item
Abstract
The article presents 2 clinical cases of genetically confirmed hereditary hemochromatosis. The main criteria for diagnosis and treatment of this disease are given. In case of presence of cytolytic syndrome, it is necessary to include hemochromatosis in the diagnostic search. It is emphasized that timely and rational treatment of hemochromatosis can prevent the development of liver cirrhosis and significantly increase the life expectancy of patients.
Full Text
About the authors
N. B Voloshina
Novosibirsk State Medical University
Email: navo@ngs.ru
MD, Prof. at the Department of Propaedeutics of Internal Diseases
Yu. Yu Venzhina
Novosibirsk City Clinical Hospital №.12
N. L Kazakova
Novosibirsk City Clinical Hospital №.12
I. O Voloshina
Center of New Medical Technologies, Novosibirsk
References
- European Association for the Study of the liver (EASL). EASL clinical practice guidelines for HFE hemochromatosis. J. Hepatology. 2010; 53:3-22.
- Adams P., Brissot P., Powell L.W. EASL International consensus conference on haemochromatosis. J. Hepatology 2000;33:487-96.
- Bacon B.R., Adams P.C., Kowdley K., Powell L.W., Tavill A.S. Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54:328-43.
- Bardou-Jacquet E., de Tayrac M., Mosser J., Deugnier Y. GNPAT variant associated with severe iron overload in HFE hemochromatosis. Hepatology 2015;62:1917-18.
- Harrison-Findik D.D., Schafer D., Klein E., Timchenko N.A., Kulaksiz H., Clemens D., Fein E., Andriopoulos B., Pantopoulos K., Gollan J. Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription and leads to increased duodenal iron transporter expression. J. Biol. Chem. 2006;281: 22974-982.
- Harrison-Findik D.D., Klein E., Crist C., Evans J., Timchenko N., Gollan J. Iron-mediated regulation of liver hepcidin expression in rats and mice is abolished by alcohol. Hepatology. 2007;46:1979-85.
- Moretti D., van Doorn G.M., Swinkels D.W., Melse-Boonstra A. Relevance of dietary iron intake and bioavailability in the management of HFE hemochromatosis: a systematic review. Am. J. Clin. Nutr. 2013;98:468-79.
- Delatycki M.B., Gurrin L.C., Ong S.Y., Ramm G.A., Anderson G.J., Olynyk J.K., Allen K.J., Nicoll A.J., Powell L.W. Reduced mortality due to phlebotomy in moderately iron-loaded HFE haemochromatosis? The need for clinical trials. J. Hepatology. 2015;63:282-83.
- Phatak P., Brissot P., Wurster M., et al. A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology. 2010;52:1671.
- Stefashyna O., Stefashyna O., Stern M., Infanti L., Holbro A. Pattern of care of blood donors with early-uncomplicated hereditary haemochromatosis in a Swiss blood donation centre. Vox Sanguinis. 2014;106:111-17.
- Wood M.J., Powell L.W., Ramm G.A. Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis. Blood. 2008;111: 4456-462.