History and exam

Key diagnostic factors

common

age 40-65 years

Peak incidence is around age 40 years.[7]​ Median age at diagnosis is 65 years.[2]​ Patients can present from their 20s onward and younger patients may experience more aggressive, less treatment-responsive disease.[2]​ There are anecdotal reports only of the disease in children.

female sex

PBC is significantly more common in women than in men (up to a tenfold difference).[4][5][6]​​ Studies suggest that at least one in 1000 women over the age of 40 years have PBC.[7]

uncommon

family history of PBC

An affected first-degree relative increases the risk of PBC almost tenfold.[18]

Other diagnostic factors

common

personal history of autoimmune disease

Both nonorgan-specific and organ-specific autoimmune disease.[22][23][24]​​​

family history of autoimmune disease

Both nonorgan-specific and organ-specific autoimmune disease.[22][23][24]​​

history of hypercholesterolemia

Feature of cholestasis. Typically elevated HDL and lipoprotein X.[37]

itch

Present in approximately 30% of patients. Frequently misinterpreted as representing the presence of skin disease, particularly when excoriations as a result of scratching activity are present.[36]

fatigue

Probably common but actual frequency depends on definition. Frequently not mentioned by patients, who feel it is unrelated to disease.[36][40]

dry eyes and dry mouth

Mild features of associated Sjögren syndrome. Eye problems can be particularly prominent in contact lens wearers. Poor saliva production frequently reported by patients as dysphagia.[23]

abdominal discomfort

Feature of cholestasis. Beyond the classic symptoms of PBC, patient-reported concerns may include abdominal pain.[15]

sleep disturbance

Daytime somnolence in particular, prominently associated with fatigue.[41]

hepatomegaly

The liver can frequently be slightly enlarged (smooth-edged and nontender).

uncommon

xanthelasmata

Present around the eye. Typically not associated with other cutaneous features of hypercholesterolemia.[38][39]

postural dizziness/blackouts

Feature of autonomic dysfunction. Can be exacerbated by vasoactive drugs.[42]

memory and concentration problems

Can be associated with autonomic dysfunction.[43]

jaundice

Absent in most patients in most populations at presentation.[38][39]

ascites

Feature only of very advanced disease.[38][39] Very unlikely unless the patient is also jaundiced.

splenomegaly

Feature of advanced disease and suggestive of the presence of portal hypertension.

skin pigmentation

Typically accompanies jaundice where present, causing skin color change out of proportion to the degree of biochemical jaundice.[38][39]

Risk factors

strong

female sex

PBC is significantly more common in women than in men (up to a tenfold difference).[4][5][6]​​ Studies suggest that at least one in 1000 women over the age of 40 years have PBC.[7]

age between 40 and 65 years

Peak incidence is around 40 years.[7]​ Median age at diagnosis is 65 years.[2]

family history of PBC

An affected first-degree relative increases the risk of PBC almost tenfold.[18]

weak

family history of autoimmune disease

Patients with PBC will frequently describe a positive family history of other autoimmune disease.[22][23][24]​​

smoking

Smoking is associated with PBC in the white population. This association remains to be validated in other populations.[22]

urinary tract infection

Urinary tract infection is associated with PBC in the white population. This association remains to be validated in other populations.[22]

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