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Review
. 2022 Sep 29:14:135-161.
doi: 10.2147/HMER.S377530. eCollection 2022.

Polycystic Liver Disease: Pathophysiology, Diagnosis and Treatment

Luiz Fernando Norcia  1 , Erika Mayumi Watanabe  2 , Pedro Tadao Hamamoto Filho  3 , Claudia Nishida Hasimoto  1 , Leonardo Pelafsky  1 , Walmar Kerche de Oliveira  1 , Ligia Yukie Sassaki  4
Affiliations
Review

Polycystic Liver Disease: Pathophysiology, Diagnosis and Treatment

Luiz Fernando Norcia et al. Hepat Med. .

Abstract

Polycystic liver disease (PLD) is a clinical condition characterized by the presence of more than 10 cysts in the liver. It is a rare disease Of genetic etiology that presents as an isolated disease or assoc\iated with polycystic kidney disease. Ductal plate malformation, ciliary dysfunction, and changes in cell signaling are the main factors involved in its pathogenesis. Most patients with PLD are asymptomatic, but in 2-5% of cases the disease has disabling symptoms and a significant reduction in quality of life. The diagnosis is based on family history of hepatic and/or renal polycystic disease, clinical manifestations, patient age, and polycystic liver phenotype shown on imaging examinations. PLD treatment has evolved considerably in the last decades. Somatostatin analogues hold promise in controlling disease progression, but liver transplantation remains a unique curative treatment modality.

Keywords: hepatomegaly; liver; liver cysts; polycystic liver disease; therapeutics.

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Conflict of interest statement

The authors have no conflicts of interest to declare regarding the present work.

Figures

Figure 1
Figure 1
Main cell signaling pathways involved in PLD. (A) Normal functioning of the mitogen-activated protein kinase (MAPK) pathway in the liver. (B) Dysfunction of the mitogen-activated protein kinase (MAPK) pathway and influence of intracellular calcium concentration on the pathogenesis of polycystic liver disease. (C) Mammalian target of rapamycin (mTOR) dysfunction and influence of growth factors on the pathogenesis of polycystic liver disease.
Figure 2
Figure 2
Contrast-enhanced computed tomography image, portal phase. (A) Axial section. (B) Sagittal section, showing liver with increased size and a sequence of images of multiple of liver cysts of varying sizes, with fluid density and thin and regular walls, and without enhancement after contrast injection.
Figure 3
Figure 3
Magnetic resonance image. (A) Axial section showing multiple liver cysts with low signal on T1-weighted sequence. (B) Axial section showing multiple liver cysts with low signal on the T1-weighted sequence, without enhancement after infusion of paramagnetic contrast in the portal phase. (C) Axial section showing multiple liver cysts with high signal on T2-weighted sequence. (D) Coronal section, 2D multiplanar reconstruction, in T2 sequence.
Figure 4
Figure 4
Diagnostic criteria for ADPLD.
Figure 5
Figure 5
Algorithm for the treatment of polycystic liver disease.
See this image and copyright information in PMC

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