Polycystic Liver Disease

 PLD occurring in 30-90% of patients


image Age-dependent increase in number and size of liver cysts

image Higher prevalence of PLD in women


• Isolated PLD affecting < 0.01% of population

• Asymptomatic in ∼ 80% of patients

• Symptomatology due to hepatomegaly with compression of adjacent structures
image Treatment options include aspiration of large dominant cyst, sclerotherapy, cyst fenestration, somatostatin analogues, partial hepatectomy, and liver transplantation

• Renal failure is main complication of ADPKD




Macroscopic




• Hepatomegaly weighing up to 13 kg

• Cysts varying from < 1 mm to > 12 cm in diameter

• Occasionally 1 lobe involved (usually left lobe)

• Clear, colorless, or straw-colored cyst fluid


Molecular




• Mutations in PKD1 gene seen in 80-85% of ADPKD cases

• Mutations in PKD2 gene seen in 15-20% of ADPKD cases

• Mutations in PRKCSH, SEC63, and LRP5 genes in isolated PLD cases


Microscopic




• Numerous variably sized cysts lined by single layer of cuboidal or flattened biliary epithelium

• Lack of communication with biliary tree

• von Meyenburg complexes commonly present

• Fibrosis and hyalinization in collapsed cysts, which may resemble corpora atretica or fibrosa of ovary

image
Gross Appearance
This case of polycystic liver disease features massive involvement by numerous variably sized cysts, which are present throughout the liver. Note that the cyst walls are thin and smooth image .


image
Multiple Cystic Spaces
Low-power view shows numerous cystic spaces lined by a single layer of epithelial cells image, supported by variable amounts of connective tissue. Only minimal liver parenchyma remains. A von Meyenburg complex image is present. Slightly proteinaceous fluid is present in some of the cystic spaces.

image
von Meyenburg Complex
A von Meyenburg complex is present adjacent to a cyst image. The von Meyenburg complex is composed of dilated, angulated biliary structures. These are commonly seen in polycystic liver disease.

image
Collapsed Cyst
A collapsed cyst consists of a corrugated and hyalinized wall image. The lumen is filled with loose connective tissue, resembling a corpus atreticum or fibrosum of the ovary. Note the presence of residual liver parenchyma with a normal bile duct image .


TERMINOLOGY


Abbreviations




• Polycystic liver disease (PLD)

• Autosomal dominant polycystic kidney disease (ADPKD)


Definitions




• Genetic disorder characterized by progressive development of multiple liver cysts


ETIOLOGY/PATHOGENESIS


Hereditary Anomaly




• Associated with ADPKD
image Mutations in PKD1 gene encoding polycystin-1 seen in 80-85% of cases

image Mutations in PKD2 gene encoding polycystin-2 seen in 15-20% of cases

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Apr 20, 2017 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Polycystic Liver Disease
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