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Low incidence of primary biliary cirrhosis ( PBC ) in the first‐degree relatives of PBC probands after 8 years of follow‐up
Author(s) -
Gulamhusein Aliya F.,
Juran Brian D.,
Atkinson Elizabeth J.,
McCauley Bryan,
Schlicht Erik,
Lazaridis Konstantinos N.
Publication year - 2016
Publication title -
liver international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.873
H-Index - 110
eISSN - 1478-3231
pISSN - 1478-3223
DOI - 10.1111/liv.13143
Subject(s) - first degree relatives , primary biliary cirrhosis , medicine , proband , incidence (geometry) , gastroenterology , cirrhosis , epidemiology , immunology , family history , biology , biochemistry , physics , optics , mutation , gene
Background & Aims Primary biliary cirrhosis ( PBC ) is characterized by chronic cholestasis and disease‐specific antimitochondrial antibodies ( AMA ). A high prevalence of AMA s in first‐degree relatives ( FDR s) of PBC probands has been reported, although the natural history of such patients has not been described. We aimed to assess the risk of developing PBC in AMA + FDR s of patients with PBC . Methods First‐degree relatives recruited to the Mayo Clinic PBC Genetic Epidemiology Registry and Biorepository were followed for disease onset after recruitment. Development of PBC was ascertained via self‐report during a telephone interview and/or via proband report on a questionnaire. Chi‐squared test and t ‐test were used to assess the differences between categorical and continuous variables respectively. A mixed‐effects model was used to assess the change in biochemical profiles over time. Results Forty AMA + and 423 AMA − subjects were included and followed for a median of 8.9 and 8.4 years respectively. Overall, 3% ( n = 15) of FDR s were diagnosed with PBC , and AMA + FDR s had a higher risk than AMA − FDR s (24% vs. 0.7%, P < 0.01). However, among undiagnosed FDR s, only 4% of AMA + ( n = 1) and 0.4% of AMA − ( n = 1) FDR s were diagnosed with PBC ( P = 0.17) during the follow‐up period. None of the AMA + FDR s with normal alkaline phosphatase at baseline developed PBC in follow‐up. Conclusions Our results suggest a low risk of developing PBC over time in FDR s of patients with PBC , particularly those without biochemical evidence of cholestasis at baseline. These data are useful in counselling and reassuring relatives of their overall favourable prognosis.