Primary Biliary Cirrhosis Associated with Systemic Sclerosis: Diagnostic and Clinical Challenges

Table 1

Features demographic, immunological and genetic features of primary biliary cirrhosis (PBC) and systemic sclerosis (SSc).

	PBC	SSc
Prevalence (highly variable geographically)	28–402/million	50–200/million
Incidence (highly variable geographically)	2.3–27/million	0.6–122/million
Male to female ratio	1 : 8	1 : 1.5–12 (highly variable geographically)
Peak frequency age	53 years	45–64 years
Autoantibodies	AMA, ANA	Limited disease: ACA, anti-Th/To, anti-U1-RNP
		Diffuse disease: TOPO, anti-RNA polymerase III, anti-U3-RNP
Genes (positive associations)	HLA: DRB1, DQA1, DQB1, DQA2	HLA: HLA-DRB1*1104, DQA1*0501, DQB1*0301, HLA-DRB1*0804, DQA1*0501, DQB1*0301
	Non-HLA: IRF5, STAT4, SPIB, IKZF3-ORMDL3, IL12A, IL12RB, MMEL1, DENND1B, CD80, IL7, CXCR5, TNFRSF1A, CLEC16A, NKFB1	Non-HLA: STAT4, IRF5, BANK1, TNSF4, TBX21, IL-23R, and C8orf13-BLK

AMA, anti-mitochondrial antibody; ANA, anti-nuclear antibody; ACA, anti-centromere antibody.