AD Polycystic Liver Disease

Published on 18/07/2015 by admin

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Last modified 22/04/2025

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± cysts in kidneys and other organs

• Cyst contents often greater than water density/intensity due to hemorrhage (infection less common)

Calcification in cyst wall often seen due to old hemorrhage

TOP DIFFERENTIAL DIAGNOSES

• Hepatic (bile duct) cysts

Are not distinguishable reliably by imaging or histology from ADPLD

• Biliary hamartomas

Usually numerous and < 15 mm in diameter

• Caroli disease

• Cystic metastases

CLINICAL ISSUES

• Liver progressively enlarges as it is replaced by cysts

• Massive hepatomegaly, compression of stomach, bowel, lungs

• Dull abdominal pain, abdominal distention, dyspnea, cachexia, early satiety

• Liver function is uncommonly impaired

• Treatment: Alcohol ablation, resection or marsupialization of dominant cysts

Orthotopic liver transplantation has excellent long-term results

Usually performed to relieve mass effect of liver on adjacent organs

DIAGNOSTIC CHECKLIST

• Cannot diagnose AD polycystic liver disease just by presence of numerous hepatic cysts

Requires cysts in other organs, family history, or genetic testing

(Left) Gross pathology photograph of a hepatectomy specimen shows numerous cysts replacing liver parenchyma. The cysts ranged in size from microscopic to 5 cm in greatest dimension and contained clear fluid. This liver, which weighed 9 kg, was resected due to intractable patient discomfort and pressure on other organs.

(Right) Coronal T2WI MR shows innumerable high signal intensity cysts of varying size almost completely replacing hepatic parenchyma. Multiple cysts within the left kidney are also visible.

(Right) Coronal T2WI MR shows innumerable high signal intensity cysts of varying size almost completely replacing hepatic parenchyma. Multiple cysts within the left kidney are also visible.

(Left) Axial CECT shows typical findings of AD polycystic liver disease (ADPLD) in a middle-aged man with early satiety. Note the compression of the stomach by a dominant cyst from the left hepatic lobe, which was subsequently marsupialized at surgery with resolution of symptoms.

(Left) Axial CECT shows typical findings of AD polycystic liver disease (ADPLD) in a middle-aged man with early satiety. Note the compression of the stomach by a dominant cyst from the left hepatic lobe, which was subsequently marsupialized at surgery with resolution of symptoms.

(Right) Axial CECT in the same patient following surgical drainage of the left lobe cyst shows no residual compression of the stomach . The symptoms of early satiety also resolved.

(Right) Axial CECT in the same patient following surgical drainage of the left lobe cyst shows no residual compression of the stomach . The symptoms of early satiety also resolved.

TERMINOLOGY

Abbreviations

• Autosomal dominant polycystic liver disease (ADPLD) or adult PLD

Definitions

• Uncommon inherited disorder

• Part of fibropolycystic liver disease spectrum

Constitutes group of related lesions of liver and biliary tract caused by abnormal development of embryological ductal plate

IMAGING

General Features

• Best diagnostic clue

Multiple (> 20) cysts of varying size

• Location

Extent of hepatic involvement ranges from limited sporadic areas of cystic disease to diffuse involvement of all lobes of liver

– ± cysts in kidneys and other organs

• Size

Range from < 1 mm to > 12 cm

• Key concepts

Numerous large or small cysts coexist with fibrosis

– Round or oval shape

– Smooth, thin wall (if uncomplicated)

– Absence of internal structures (if uncomplicated)

Radiographic Findings

• ERCP

No communication with biliary tree

Cysts do not opacify

CT Findings

• NECT

Multiple to innumerable, homogeneous, and hypoattenuating cystic lesions

– Cyst contents > water density due to hemorrhage (infection less common)

– Calcification in cyst wall often seen (due to old hemorrhage)

• CECT

No wall or content enhancement

Cysts complicated by infection or hemorrhage may have septations &/or internal debris

– May also have enhancement of walls, but no enhancing nodules

Cysts may contain fluid levels

MR Findings

• T1WI

Uncomplicated cysts have very low signal intensity

– Higher signal in cysts with recent hemorrhage

• T2WI

Hetero- or homogeneous high signal intensity cysts

– Intracystic hemorrhage: Lower signal intensity

• T1WI C+

Nonenhancing after administration of gadolinium contrast material

• MR cholangiography (MRC)

No communication between cysts or with biliary tree

Coexisting Caroli disease will have cysts communicating with bile ducts

Ultrasonographic Findings

• Grayscale ultrasound

Anechoic masses with smooth borders, thin walls, and no septations or mural nodularity

Acoustic enhancement beyond each cyst

Nuclear Medicine Findings

• Tc-99m DISIDA scintigraphy permits differential diagnosis between Caroli disease and PLD

Caroli disease

– Areas of focally ↑ radiotracer accumulation that persist > 120 minutes

PLD

– Areas of focally ↓ radiotracer accumulation with normal liver washout and biliary excretion

Imaging Recommendations

• Best imaging tool

CECT or MR (renal function permitting)

– MR is more sensitive for detection of complicated cysts

DIFFERENTIAL DIAGNOSIS

Hepatic (Bile Duct) Cysts

• Not reliably distinguishable by imaging or histology from ADPLD

Less likely to have hemorrhage

• Multiple cysts of different sizes

Biliary Hamartoma

• Usually numerous small lesions

Typically < 1.5 cm in diameter

• Varied enhancement based on cystic/solid components of lesions

Predominantly cystic (water density) lesions

– No enhancement of contents

Predominantly solid (fibrous stroma) lesions

– Enhance and become isodense with liver parenchyma

– Imparts echogenicity of smaller lesions

• T2WI, MRC: Markedly hyperintense cyst-like lesions, no communication with biliary tree

Caroli Disease

• Congenital communicating cavernous ectasia of biliary tract

• Multiple, small, rounded, saccular dilatation of intrahepatic bile ducts

• Central dot sign on CECT

Enhancing portal radicles within cysts

• MRC: Communicating bile duct abnormality

Cystic Metastases

• Often from sarcomas, especially GIST after treatment

• Have internal debris or mural nodularity

• Rarely as numerous as in polycystic liver

PATHOLOGY

General Features

• Etiology

Due to ductal plate malformation of small intrahepatic bile ducts

– Ducts lose communication with biliary tree

• Genetics

Autosomal dominant

Gene responsible for polycystic liver disease

– PRKCSH (chromosome 19p)

• Associated abnormalities

Biliary hamartomas

Congenital hepatic fibrosis

Caroli disease

Often coexists with autosomal dominant or recessive polycystic renal disease

Hepatic cysts are pathologically identical to simple or bile duct cysts

Gross Pathologic & Surgical Features

• Progressive with massive enlargement and distortion of liver

Liver surrounding cysts frequently contains biliary hamartomas and ↑ fibrous tissue

Microscopic Features

• Cuboidal and flat monolayer epithelium with no dysplasia in cyst walls

CLINICAL ISSUES

Presentation

• Most common signs/symptoms

Dull abdominal pain

Abdominal distention

Dyspnea

Cachexia; early satiety

• Clinical profile

Other signs/symptoms

– Often causes massive hepatomegaly, compression of stomach

– Liver volume is often 5-10x higher than normal

Compression of portal vein → portal hypertension

Extrinsic compression of intrahepatic bile ducts

Hepatic venous outflow obstruction due to compression by cysts

Transudative ascites, portal hypertension due to distortion of portal venules by cysts and fibrosis

Lab data: ADPLD uncommonly affects liver function

Demographics

• Age

Adult manifestation

• Gender

M < F

– More common in women (60-75%) than men (40-60%)

– Women often have larger and more numerous cysts than men

• Epidemiology

Incidence is difficult to determine because of various degrees of expression

– Variable degrees of fibrosis and cystic anomalies

Hepatobiliary and renal anomalies frequently coexist in various combinations

– Suggests common underlying genetic abnormality

Isolated polycystic liver disease is distinct genetic disease

– Less common than polycystic liver disease associated with autosomal dominant polycystic kidney disease (ADPKD)

∼ 1/2 of all patients with ADPKD have hepatic involvement

∼ 70% of patients with polycystic liver disease also have polycystic kidney disease

Natural History & Prognosis

• Liver progressively enlarges as it is replaced by cysts

• Isolated liver involvement does not lower life expectancy

• Complications: Spontaneous intracystic hemorrhage, rupture, infection

• Prognosis: Medical and surgical interventions have inconsistent long-term palliation

Orthotopic liver transplantation has excellent long-term results

Usually performed to relieve mass effect of liver on adjacent organs

Treatment

• Options, risks, complications

Somatostatin analogues reduce cyst volume temporarily

Simple unroofing, cyst fenestration alone, or fenestration combined with resection

Percutaneous aspiration and alcohol sclerotherapy

Combination of marsupialization and resection of dominant cysts

Total hepatectomy and orthotopic liver transplantation for patients with severe ADPLD

Combined liver and kidney transplantation if both organs are severely involved

– 1-year survival rate: 89%, with excellent symptomatic relief and improved quality of life

DIAGNOSTIC CHECKLIST

Consider

• Isolated ADPLD is underdiagnosed and genetically distinct from PLD associated with ADPKD

All other aspects of disease are similar

Image Interpretation Pearls

• Cannot diagnose ADPLD just by presence of numerous hepatic cysts

Requires cysts in other organs, family history, or genetic testing

(Left) Axial CECT in a middle-aged woman shows multiple large cysts in polycystic kidneys and in the liver . Women with polycystic liver disease (PLD) tend to develop larger cysts than men, attributed by some to a hormonal effect on cyst development.

(Left) Axial CECT in a middle-aged woman shows multiple large cysts in polycystic kidneys and in the liver . Women with polycystic liver disease (PLD) tend to develop larger cysts than men, attributed by some to a hormonal effect on cyst development.

(Right) Axial CECT (different patient) shows numerous hepatic cysts, some > 20 cm in diameter. Only a few small renal cysts are evident. The right kidney was displaced caudally and was hydronephrotic due to compression of the renal pelvis (not shown).

(Right) Axial CECT (different patient) shows numerous hepatic cysts, some > 20 cm in diameter. Only a few small renal cysts are evident. The right kidney was displaced caudally and was hydronephrotic due to compression of the renal pelvis (not shown).

(Left) Axial NECT shows innumerable homogeneous and hypoattenuating cystic lesions with smooth, thin walls and an absence of internal structures. Some cysts have higher than water density contents and others have peripheral calcification in cyst walls due to prior episodes of intracystic hemorrhage.

(Left) Axial NECT shows innumerable homogeneous and hypoattenuating cystic lesions with smooth, thin walls and an absence of internal structures. Some cysts have higher than water density contents and others have peripheral calcification in cyst walls due to prior episodes of intracystic hemorrhage.

(Right) Axial CECT shows a liver that is grossly enlarged and nearly replaced by innumerable cysts. Note also the involvement of both kidneys. Most patients with PLD also have ADPKD.

(Left) T1WI GRE opposed-phase image shows numerous hepatic cysts of varying intensity. Some are nearly black , as one would expect for simple fluid content, while others are of intermediate intensity. At least 1 has septations and heterogeneous contents from prior hemorrhage.

(Left) T1WI GRE opposed-phase image shows numerous hepatic cysts of varying intensity. Some are nearly black , as one would expect for simple fluid content, while others are of intermediate intensity. At least 1 has septations and heterogeneous contents from prior hemorrhage.

(Right) T2WI MR in the same patient shows the complex nature of the contents of some of the hepatic cysts, with uncomplicated cysts being homogeneously bright and complex cysts having heterogeneous contents .

(Right) T2WI MR in the same patient shows the complex nature of the contents of some of the hepatic cysts, with uncomplicated cysts being homogeneously bright and complex cysts having heterogeneous contents .

Axial CECT shows innumerable cysts on portal venous phase. These are uncomplicated cysts with no wall or content enhancement and an absence of internal debris/septations. Pancreatic cysts are also seen.

Axial CECT shows innumerable cysts on portal venous phase. These are uncomplicated cysts with no wall or content enhancement and an absence of internal debris/septations. Pancreatic cysts are also seen.

Ultrasound of RUQ demonstrates anechoic, multiple, hepatic cysts, with smooth borders, thin walls, and no septations or mural nodularity in a patient with ADPLD.

Axial CECT through the liver and kidneys shows lack of involvement of the kidneys in a patient with isolated ADPLD.

Axial T2WI MR shows a hemorrhagic cyst in a patient with ADPLD as less hyperintense than its neighboring uncomplicated cyst .

Axial T2WI MR shows a hemorrhagic cyst in a patient with ADPLD as less hyperintense than its neighboring uncomplicated cyst .

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