Combination of hemochromatosis and primary biliary cholangitis
https://doi.org/10.31146/1682-8658-ecg-229-9-217-222
Abstract
A clinical case of an extremely rare morphologically verified combination of primary biliary cholangitis and hemochromatosis in a patient is presented. A brief description and literature reference on these diseases are given from the standpoint of a modern approach to diagnostics, classification, clinical manifestations and treatment. The presented observation considers the course of the disease in a patient from the onset to the present time, including the stage of self-induced cessation of taking the necessary medications and seeking medical help, which led to rapid progression of the disease with pronounced clinical manifestations with the appearance of a typical color of the skin, the appearance of xanthelasma, hepatosplenomegaly and hepatocellular insufficiency. The data of laboratory and instrumental examination conducted in various clinics are analyzed. It is important to note that liver cirrhosis as a result of primary biliary cholangitis and hemochromatosis has a very unfavorable prognosis, and the treatment is comprehensive.
About the Authors
G. R. Bikbavova
Omsk State Medical University
Russian Federation
Russian Federation
D. G. Belyakov
Omsk State Medical University
Russian Federation
Russian Federation
V. A. Akhmedov
Omsk State Medical University
Russian Federation
Russian Federation
T. V. Tretyakova
Omsk Region Regional Clinical Hospital
Russian Federation
Russian Federation
Yu. T. Ignatiev
Omsk State Medical University
Russian Federation
Russian Federation
References
1. Porter J.L., Rawla P. Hemochromatosis. [Updated 2024 Oct 6]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK430862/.
2. Brissot P., Brissot E. What’s Important and New in Hemochromatosis?. Clin Hematol Int. 2020;2(4):143-148. doi: 10.2991/chi.k.200726.001.
3. Girelli D., Busti F., Brissot P. et al. Hemochromatosis classification: update and recommendations by the BIOIRON Society. Blood. 2022;139(20):3018-3029. doi: 10.1182/blood.2021011338.
4. Yun S., Vincelette N.D. Update on iron metabolism and molecular perspective of common genetic and acquired disorder, hemochromatosis. Crit Rev Oncol Hematol. 2015;95(1):12-25. doi: 10.1016/j.critrevonc.2015.02.006
5. Zoller H., Schaefer B., Vanclooster A. et al. EASL clinical practice guidelines on haemochromatosis. Journal of Hepatology. 2022; 77(2):479-502. doi: 10.1016/j.jhep.2022.03.033.
6. Gulamhusein A.F., Hirschfield G.M. Primary biliary cholangitis: pathogenesis and therapeutic opportunities. Nat Rev Gastroenterol Hepatol. 2020;17(2):93-110. doi: 10.1038/s41575-019-0226-7.
7. Cheung A.C., Montano-Loza A., Swain M. et al. Time to make the change from ‘primary biliary cirrhosis’ to ‘primary biliary cholangitis’. Can J Gastroenterol Hepatol. 2015;29(6):293. doi: 10.1155/2015/764684.
8. Tanaka A., Leung P.S.C., Gershwin M.E. Pathogen infections and primary biliary cholangitis. Clin Exp Immunol. 2019;195(1):25-34. doi: 10.1111/cei.13198.
9. Bakulin I.G., Skazyvaeva E.V., Skazyvaeva M.I. [Primary biliary cholangitis: modern concepts of diagnosis and treatment]. Opinion Leader. 2020;9 (38):48-54. (in Russ.)@@ Бакулин И.Г., Сказываева Е.В., Сказываева М.И. Первичный билиарный холангит: современные представления о диагностике и лечении // Opinion Leader. - 2020. - № 9 (38). - С. 48-54.
10. You H., Duan W., Li S. et al. Guidelines on the Diagnosis and Management of Primary Biliary Cholangitis (2021). J Clin Transl Hepatol. 2023;11(3):736-746. doi: 10.14218/JCTH.2022.00347.
11. Hirschfield G.M., Dyson J.K., Alexander G.J.M. et al. The British Society of Gastroenterology/UK-PBC primary biliary cholangitis treatment and management guidelines. Gut. 2018;67(9):1568-1594. doi: 10.1136/gutjnl-2017-315259.
12. Onofrio F.Q., Hirschfield G.M., Gulamhusein A.F. A Practical Review of Primary Biliary Cholangitis for the Gastroenterologist. Gastroenterol Hepatol (N Y). 2019;15(3):145-154.
13. Hultcrantz R., Angelin B., Björn-Rasmussen E. et al. Biliary excretion of iron and ferritin in idiopathic hemochromatosis. Gastroenterology. 1989;96(6):1539-1545. doi: 10.1016/0016-5085(89)90524-6
14. Vinnitskaya E.V., Absandze K.G., Arkhipova E.V., Ivanov A.N., Sbikina E.S., Sandler Yu.G. Primary Biliary Cholangitis and Ursodeoxycholic Acid: Therapy Progress and Challenges. Doctor.Ru. 2019; 3(158): 33-39. (in Russ.) doi: 10.31550/1727-2378-2019-158-3-33-39.@@ Винницкая Е.В., Абсандзе К.Г., Архипова Е.В. и соавт. Первичный билиарный холангит в эпоху урсодезоксихолевой кислоты: достижения и проблемы терапии. Doctor.Ru. 2019; 3(158): 33-39. doi: 10.31550/1727-2378-2019-158-3-33-39.
15. Levy C., Manns M., Hirschfield G. New Treatment Paradigms in Primary Biliary Cholangitis. Clin Gastroenterol Hepatol. 2023;21(8):2076-2087. doi: 10.1016/j.cgh.2023.02.005.
16. Skvortsov V.V., Gorbach A.N. Changes in the Liver with Hemochromatosis: Symptoms and Diagnostics. Effective pharmacotherapy. 2020;16(1):74-78. doi: 10.33978/2307-3586-2020-16-1-74-78.@@ Сквoрцoв В.В., Горбач А.Н. Поражения печени при гемохроматозе: клинические проявления и диагностика. Эффективная фармакотерапия. 2020. Т. 16. № 1. С. 74-78. doi: 10.33978/2307-3586-2020-16-1-74-78.
Review
For citations:
Bikbavova G.R., Belyakov D.G., Akhmedov V.A., Tretyakova T.V., Ignatiev Yu.T. Combination of hemochromatosis and primary biliary cholangitis. Experimental and Clinical Gastroenterology. 2024;(9):217-222. (In Russ.) https://doi.org/10.31146/1682-8658-ecg-229-9-217-222
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