Clinical vignette
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:
- I.What causes the development of liver cysts?
- II.Is genetic testing and genetic counselling recommended?
- III.What is the natural course of polycystic liver disease and what can patients do to stop growth of liver cysts?
- IV.Which complications may occur during the course of polycystic liver disease?
- V.What treatment options are currently available?
- VI.What other potential new and effective therapies will be available in the near future?
Keywords
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Article info
Publication history
Published online: November 23, 2017
Accepted:
November 18,
2017
Received in revised form:
September 20,
2017
Received:
June 30,
2017
Footnotes
☆The Radboudumc Department of Gastroenterology and Hepatology is part of ERN-rare liver http://www.rare-liver.eu/.
Identification
Copyright
© 2017 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
