Search tips
Search criteria 


Logo of gutGutVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
Gut. 2007 May; 56(5): 676.
PMCID: PMC1942164

Familial liver disease

Clinical presentation

A 52‐year‐old man presented with malaise and abnormal liver function tests: alanine aminotransferase 71 IU/ml (0–50), γ‐glutamyltransferase 465 IU/ml (0–60), alkaline phosphatase 167 IU/ml (30–140), bilirubin 19 μmol (3–28). He had never consumed alcohol, was on no regular drug treatment and had no medical history of note. His 53‐year‐old brother had died of renal disease and his sister had presented with fatal portal hypertensive haemorrhage at the age of 41 years. Clinical examination was unremarkable, full blood count Hb 12.5 g/dl (13.5–17.5), white blood count 2.5×109 (4–11), platelets 81×109/l (150–400), albumin, coagulation profile and immunoglobulins were normal. Viral markers for hepatitis and autoimmune serology were negative, abdominal ultrasound examination showed coarse architecture of the liver with normal‐sized spleen. Oesophagogastroduodenoscopy showed grade IV oesophageal varices, a liver biopsy was carried out ((figsfigs 1 and 22).

figure gt97402.f1
Figure 1 Liver biopsy, H&E stain, low‐power microscopy.
figure gt97402.f2
Figure 2 Liver biopsy, H&E stain, high‐power microscopy.


What is the diagnosis?

See page 732 for answer

Articles from Gut are provided here courtesy of BMJ Publishing Group