clinical features

Last reviewed 08/2021

The typical patient is a female between the ages of 30 and 65.

Presentation of PBC may vary greatly from asymptomatic and slowly progressive to symptomatic and rapidly evolving.

Up to half of patients are asymptomatic with hepatomegaly or a raised alkaline phosphatase being detected incidentally.

• frequency of asymptomatic cases is increasing due to raised awareness of the disease together with broad use of routine testing of liver biochemistry
• many will develop symptomatic liver disease within 5 years of diagnosis but one third may remain symptom-free for many years (1)

Symptomatic patients present with:

• fatigue
• most common symptom seen in up to 80% of patients
• characterised as excessive daytime somnolence which may impair quality of life
• does not correlate with the severity, histologic stage or duration of PBC
• may be a manifestation of untreated hypothyroidism (which is seen in about 20% of patients with PBC)
• may be associated with decreased overall survival (1,2)
• pruritus
• more specific symptom seen in 20-70% of patients
• cause is unknown but thought to be due to increased opioidergic neurotransmission or components of bile.
• less common nowadays since patients are often asymptomatic at diagnosis
• usually precede jaundice
• can be local or diffuse
• usually worse at night while lying in bed
• often exacerbated by contact with wool, other fabrics, heat, or pregnancy
• severity may diminish over time
• other symptoms - comorbid autoimmune diseases associated
• Sicca Syndrome (dry eyes and/or mouth)
• cutaneous calcinosis, Raynaud’s phenomenon, and dysphagia - uncommon

A very few patients may present with advanced stage of disease and with complications

• portal hypertension e.g. - ascites, hepatic encephalopathy or esophageal variceal bleeding) (2)
• metabolic bone disease
• osteoporosis - occurs in up to one-third of patients
• osteomalacia

• hyperlipidemia
• steatorrhoea

On physical examination, the patient may have the following:

• xanthelasmata or xanthomata
• hepatomegaly occurs eventually in 70% of patients
• splenomegaly occurs eventually in 35% of patients
• hyperpigmentation of the skin
• jaundice – a late manifestation
• signs suggestive of cirrhosis
• spider naevi
• temporal and proximal-limb muscle wasting
• ascites
• oedema (1,2,3)

Reference:

• (1) Selmi C et al. Primary biliary cirrhosis. Lancet. 2011 May 7;377(9777):1600-9.  
• (2) European Association for the Study of the Liver. EASL Clinical Practice Guidelines: Management of cholestatic liver diseases. Journal of Hepatology 51 (2009) 237–267
• (3) Kaplan MM, Gershwin ME. Primary Biliary Cirrhosis. N Engl J Med 2005; 353:1261-1273