A 19-year-old Patient with Recurrent Pruritus and Jaundice
Аim: to highlight the importance of broad differential diagnosis and possibility of conversion of benign recurrent intrahepatic cholestasis type 2 into more aggressive clinical phenotype.Key points. A 19-year-old female patient was admitted to the Clinic with skin pruritus, jaundice, dark urine, cla...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Gastro LLC
2023-09-01
|
| Series: | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| Subjects: | |
| Online Access: | https://www.gastro-j.ru/jour/article/view/724 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1823860035873144832 |
|---|---|
| author | K. S. Nezhdanov E. N. Shirokova Yu. O. Shulpekova A. S. Ostrovskaya M. S. Zharkova V. T. Ivashkin |
| author_facet | K. S. Nezhdanov E. N. Shirokova Yu. O. Shulpekova A. S. Ostrovskaya M. S. Zharkova V. T. Ivashkin |
| author_sort | K. S. Nezhdanov |
| collection | DOAJ |
| description | Аim: to highlight the importance of broad differential diagnosis and possibility of conversion of benign recurrent intrahepatic cholestasis type 2 into more aggressive clinical phenotype.Key points. A 19-year-old female patient was admitted to the Clinic with skin pruritus, jaundice, dark urine, clay-colored stool, and general fatigue. Past medical history was significant for recurrent aforementioned symptoms since 3 years old, that relapsed every 1–2 years and were usually ameliorated with conservative therapy. During recent years, frequency of relapses and recovery period increased, at the same time effectiveness of medical therapy decreased. Blood chemistry results revealed an elevation of total bilirubin (up to 634 μmol/L), direct bilirubin (up to 354 μmol/L), bile acids (up to 510 μmol/L) and normal gamma glutamyl transferase level. Workup was negative for viral hepatitis, autoimmune liver diseases, obstructive choledochal lesions, storage diseases, although mutation in gene ABCB11 was found. Benign recurrent intrahepatic cholestasis type 2 was diagnosed. Following conservative therapy and plasmapheresis, jaundice and skin pruritus significantly diminished, levels of bilirubin and bile acids normalized. Regular follow up, liver biopsy and measures for relapse prevention given clinical features of aggressive phenotype were recommended.Conclusion. Identification of etiology of cholestatic liver diseases requires broad differential diagnosis. Clinical course of patients with benign recurrent intrahepatic cholestasis may transform into aggressive phenotype, reminiscent of progressive familial intrahepatic cholestasis. |
| format | Article |
| id | doaj-art-3b376864dd3b4bd7afad404c0ceefb92 |
| institution | Kabale University |
| issn | 1382-4376 2658-6673 |
| language | Russian |
| publishDate | 2023-09-01 |
| publisher | Gastro LLC |
| record_format | Article |
| series | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| spelling | doaj-art-3b376864dd3b4bd7afad404c0ceefb922025-02-10T16:14:38ZrusGastro LLCРоссийский журнал гастроэнтерологии, гепатологии, колопроктологии1382-43762658-66732023-09-01333667510.22416/1382-4376-2023-33-3-66-75547A 19-year-old Patient with Recurrent Pruritus and JaundiceK. S. Nezhdanov0E. N. Shirokova1Yu. O. Shulpekova2A. S. Ostrovskaya3M. S. Zharkova4V. T. Ivashkin5Lomonosov Moscow State UniversityI.M. Sechenov First Moscow State Medical University (Sechenov University)I.M. Sechenov First Moscow State Medical University (Sechenov University)I.M. Sechenov First Moscow State Medical University (Sechenov University)I.M. Sechenov First Moscow State Medical University (Sechenov University)I.M. Sechenov First Moscow State Medical University (Sechenov University)Аim: to highlight the importance of broad differential diagnosis and possibility of conversion of benign recurrent intrahepatic cholestasis type 2 into more aggressive clinical phenotype.Key points. A 19-year-old female patient was admitted to the Clinic with skin pruritus, jaundice, dark urine, clay-colored stool, and general fatigue. Past medical history was significant for recurrent aforementioned symptoms since 3 years old, that relapsed every 1–2 years and were usually ameliorated with conservative therapy. During recent years, frequency of relapses and recovery period increased, at the same time effectiveness of medical therapy decreased. Blood chemistry results revealed an elevation of total bilirubin (up to 634 μmol/L), direct bilirubin (up to 354 μmol/L), bile acids (up to 510 μmol/L) and normal gamma glutamyl transferase level. Workup was negative for viral hepatitis, autoimmune liver diseases, obstructive choledochal lesions, storage diseases, although mutation in gene ABCB11 was found. Benign recurrent intrahepatic cholestasis type 2 was diagnosed. Following conservative therapy and plasmapheresis, jaundice and skin pruritus significantly diminished, levels of bilirubin and bile acids normalized. Regular follow up, liver biopsy and measures for relapse prevention given clinical features of aggressive phenotype were recommended.Conclusion. Identification of etiology of cholestatic liver diseases requires broad differential diagnosis. Clinical course of patients with benign recurrent intrahepatic cholestasis may transform into aggressive phenotype, reminiscent of progressive familial intrahepatic cholestasis.https://www.gastro-j.ru/jour/article/view/724cholestasisbenign recurrent intrahepatic cholestasisprogressive familial intrahepatic cholestasisabcb11plasmapheresisursodeoxycholic acid |
| spellingShingle | K. S. Nezhdanov E. N. Shirokova Yu. O. Shulpekova A. S. Ostrovskaya M. S. Zharkova V. T. Ivashkin A 19-year-old Patient with Recurrent Pruritus and Jaundice Российский журнал гастроэнтерологии, гепатологии, колопроктологии cholestasis benign recurrent intrahepatic cholestasis progressive familial intrahepatic cholestasis abcb11 plasmapheresis ursodeoxycholic acid |
| title | A 19-year-old Patient with Recurrent Pruritus and Jaundice |
| title_full | A 19-year-old Patient with Recurrent Pruritus and Jaundice |
| title_fullStr | A 19-year-old Patient with Recurrent Pruritus and Jaundice |
| title_full_unstemmed | A 19-year-old Patient with Recurrent Pruritus and Jaundice |
| title_short | A 19-year-old Patient with Recurrent Pruritus and Jaundice |
| title_sort | 19 year old patient with recurrent pruritus and jaundice |
| topic | cholestasis benign recurrent intrahepatic cholestasis progressive familial intrahepatic cholestasis abcb11 plasmapheresis ursodeoxycholic acid |
| url | https://www.gastro-j.ru/jour/article/view/724 |
| work_keys_str_mv | AT ksnezhdanov a19yearoldpatientwithrecurrentpruritusandjaundice AT enshirokova a19yearoldpatientwithrecurrentpruritusandjaundice AT yuoshulpekova a19yearoldpatientwithrecurrentpruritusandjaundice AT asostrovskaya a19yearoldpatientwithrecurrentpruritusandjaundice AT mszharkova a19yearoldpatientwithrecurrentpruritusandjaundice AT vtivashkin a19yearoldpatientwithrecurrentpruritusandjaundice AT ksnezhdanov 19yearoldpatientwithrecurrentpruritusandjaundice AT enshirokova 19yearoldpatientwithrecurrentpruritusandjaundice AT yuoshulpekova 19yearoldpatientwithrecurrentpruritusandjaundice AT asostrovskaya 19yearoldpatientwithrecurrentpruritusandjaundice AT mszharkova 19yearoldpatientwithrecurrentpruritusandjaundice AT vtivashkin 19yearoldpatientwithrecurrentpruritusandjaundice |