Sara Santos, Sara Gomes, Inês Carvalho, Mariana Coelho, Catarina Bastos
Primary biliary cholangitis (PBC) is an autoimmune disease that destroys small bile ducts, culminating in liver failure. It typically affects middle-aged, Caucasian women. Most cases have detectable antimitochondrial antibodies. The authors report a case of a 19-year-old, African, female patient who sought medical help due to scleral icterus, asthenia, and choluria. Abdominal imaging displayed a cirrhotic liver, dilated bile ducts, gallstones, gall bladder wall thickening and a massive splenomegaly. Due to the splenomegaly and epidemiological background, screening for infectious and hematological diseases was preemptory, followed by immune and genetic diseases, which were negative. Hepatic biopsy revealed the unlikely diagnosis of advanced-stage primary biliary cholangitis. Massive splenomegaly as an initial presentation of PBC is rare, as is the absence of serum antibodies. Since prevalence of PBC is rising, high suspicion during diagnosis should be kept, even for young patients, especially when early diagnosis and appropriate treatment, increase liver transplant-free survival. Severity of disease might be higher in African patients.
