Clinical management of polycystic liver disease

Abstract

A 41-year old female underwent a computed tomography (CT) scan in 2010 because of symptoms suggestive of appendicitis. Incidentally, multiple liver lesions characterised as cysts were detected. The presence of small to medium sized liver cysts (diameter between <1 cm and 4 cm) in all liver segments (>100 cysts) and absence of kidney cysts in the context of normal renal function led to the clinical diagnosis of autosomal dominant polycystic liver disease (ADPLD). Five years later she was referred to the outpatient clinic with increased abdominal girth, pain in the right upper abdomen and right flank, and early satiety. She had difficulties bending over and could neither cut her toenails nor tie her shoe laces. In her early twenties she had used oral contraception for five years. She has been pregnant twice. Clinical examination showed an enlarged liver reaching into the right pelvic region and crossing the midline of the abdomen. Laboratory testing demonstrated increased gamma-glutamyl transferase (80 IU/L, normal <40 IU/L) and alkaline phosphatase (148 IU/L, normal <100 IU/L) levels. Bilirubin, albumin and coagulation times were within the normal range. A new CT scan in 2015 was compatible with an increased number and size of liver cysts. The diameter of cysts varied between <1 cm and 6 cm (anatomic distribution shown [Fig. 2B]). There were no signs of hepatic venous outflow obstruction, portal hypertension or compression on the biliary tract. Height-adjusted total liver volume (htTLV) increased from 2,667 ml/m in 2012 to 4,047 ml/m in 2015 (height 172 cm). The case we present here is not uncommon, and prompts several relevant questions.

Keywords: Clinical management; Complications; Liver cysts; Liver volume; PLD-Q; POLCA; Polycystic liver disease; Quality of life; Treatment.