Presentation: Patient with polycystic liver disease

A 47-year-old woman, with two children, was noted to have a polycystic liver on ultrasound during a research study. A subsequent MRI showed multiple biliary hamartomas, confirmed at a later date by histology after resection of a liver lesion (focal nodular hyperplasia). A few small renal cysts were present on imaging. Some years later she developed right upper quadrant pain and underwent laparoscopic de-roofing of dominant liver cysts. Results from the 100,000 Genomes Project confirmed a pathogenic variant in the GANAB gene.

• Genomic testing can be used to support the clinical diagnosis of isolated polycystic liver disease/ductal plate malformation and can assist with the identification of at risk family members.
  • Testing through the National Genomic Test Directory is available to patients with multiple hepatic cysts with no explanation.

• Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet containing details of all available tests.
  • For information about how to arrange testing in Wales, Scotland or Northern Ireland, see our dedicated Knowledge Hub resource.
• To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
• To investigate possible polycystic liver disease, the appropriate panel to choose is:
  • R173 Polycystic liver disease: This is a gene panel test covering a small number of genes that are known to be associated with polycystic liver disease. This test looks for pathogenic variants in the PRKCSH, SEC63, ALG8, GANAB, LRP5, PKHD, SEC61B, PKD1 and PKD2 genes.
• R173 does not include whole genome sequencing so you can use your local Genomic Laboratory Hub test order and consent (record of discussion) forms.
• The majority of tests are DNA-based, and an EDTA sample (typically a purple-topped tube) is required. Exceptions include karyotype testing and DNA repair defect testing (for chromosome breakage), which require lithium heparin (typically a green-topped tube).
• Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

For clinicians

References:

• European Association for the Study of the Liver. ‘EASL Clinical Practice Guidelines on the management of cystic liver diseases‘. Journal of Hepatology 2022: volume 77, issue 4, pages 1,083–1,108. DOI: 10.1016/j.jhep.2022.06.002

For patients

• British Liver Trust: Polycystic liver disease
• Polycystic Kidney Disease charity: Polycystic liver disease