Primary Biliary Cirrhosis: Family Stories

Table 1

Some clues for the aetiopathogenesis of primary biliary cirrhosis (PBC) are provided by family studies.

	References
Genes
(a) High incidence of mother-daughter pairs, and sister-sister pairs	[10–19]
(b) Increased incidence in PBC rates in families of PBC patients	[10–14]
(c) Similar AMA reactivity profiles shared among affected relatives	[12]
(d) HLA DR8, the allele associated with susceptibility to PBC is found in familial cases	[12, 20]
(e) Increased incidence of autoimmunity in PBC patients and their families	[13, 21, 22]
(f) Identification of non-HLA genes with increased incidence among PBC patients (e.g., STAT4, CTLA4)	[23–25]
(g) Increased concordance among monozygotic but not dizygotic twins	[26]
Environment
(a) Husband and wife with PBC (also shared same environment in childhood)	[27]
(b) Three unrelated females who shared same work environment developed PBC	[27]
(c) Women and daughter-in-law developed PBC	[27]
Combined/Undifferentiated Genes and Environment
(a) Two unrelated women sharing same environment as well as HLA and AMA patterns developed PBC	[20]
(b) Five of ten siblings in the same family developed PBC, two were asymptomatic but AMA positive, three AMA negative and asymptomatic	[27]
(c) Mother-daughter-close family friend developed PBC	[28]

A thorough list of studies reporting familial PBC in support of the role of genes and/or the environment in the pathogenesis of the disease is discussed in the main text, with the references in this table being a small representation.