Role of genetics in the Primary Biliary Cirrhosis; with the presentation of the three sisters
Tuncer Temel 1, Pınar Yildiz 1 * , Ayşegül Özakyol 1
More Detail
1 Eskişehir Osmangazi University, Eskisehir, Turkey
* Corresponding Author

Abstract

Objective:
There is growing evidence of genetic susceptibility and environmental factors lead to primary biliary cirrhosis (PBC). In particular, family members of an infected individual can have higher risk of developing PBC. Here we present two of three siblings who did not have any clinical symptoms.

Case:
Three siblings, who are 44, 53 and 51 years old respectively, were diagnosed as PBC. One of them excepted and the others were asymptomatic and the 44 yearsold women has a known results of PBC such as icteric sclera, ascites, prolonged prothrombin time, elevated INR and splenomegaly. On the contrary, other two sibling did not have symptoms associated with PBC but the screening tests diagnosed PBC.

Discussion:
In conclusion that familial PBC is not rare, that it is related to maternally inherited factors. PBC may be initially asymptomatic and therefore family screening is important in the early diagnosis and treatment.

License

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Case Report

https://doi.org/10.29333/ejgm/81913

Eur J Gen Med, 2016 - Volume 13 Issue 3, pp. 72-73

Publication date: 06 Aug 2016

Article Views: 474

Article Downloads: 384

Open Access References How to cite this article