Familial occurrence of primary biliary cirrhosis associated with hypergammaglobulinemia in descendants: A family study

Familial Primary Biliary Cirrhosis in Hiroshima

“…This may be because of increased awareness of the disease and the greater availability of screening, leading to more patients being found with asymptomatic disease at an earlier age. The period of time between diagnosis within a family was shorter in this series than in other reports [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][41][42]. Brind et al [37] found the same phenomenon, where the daughters presented at a younger age than their mothers.…”

“…PBC cases in a variety of relatives have been documented, including cases in pairs of sisters and brothers [10,11,19,22]. In addition, cases of PBC in mother-daughter and father-daughter pairs have been published [14][15][16][17][18]20]. The results of these studies are summarized in Table 6.…”

“…PBC appears to be more frequent in people who have a family history of the disease [7][8][9]. The published research in this area consists largely of descriptive reports of PBC clusters within the same family [10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25]. In addition, a few epidemiologic studies have been conducted to assess the familial prevalence of PBC [7-9, 26-28].…”

Familial Clustering and Genetic Background of Primary Biliary Cirrhosis in Japan

“…The new cases had not been examined for liver function until this study because they have had no symptoms related to chronic liver disease in their life. Finally, these four PBC patients were found in one pedigree and we believe they represent the second-largest number of patients in one family next to two families reported by Jaup and Zettergren [6] and by Abu-Mouch et al [20], who described five cases of PBC in one family. Thus, the family history of PBC should always be investigated in order to identify occult, asymptomatic new PBC patients for earlier diagnosis, and treatment by liver function and immunological tests including AMA, especially in middle-aged or elderly female family members.…”

“…Familial PBC has been reported in various countries [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] but only a little information is available about the occurrence of familial PBC. The reported prevalence of familial PBC ranges from 1.33 to 9.0% so far (Table 5), which was comparable to our result (5.8%).…”