Previous reports on polycystic liver disease are based on the disease as it manifests in patients with autosomal dominant polycystic kidney disease (ADPKD).
In this study, researchers from the United States aimed to develop a clinical profile of isolated autosomal dominant polycystic liver disease (ADPLD), using nonaffected family members as controls.
The research team included 146 probands, known affected relatives, and first-degree relatives of affected individuals.
Participants underwent a formalized medical history interview and physical examination.
They also received an ultrasonographic examination of the liver and kidneys, magnetic resonance angiography of the brain, and echocardiography.
Of the 49 individuals diagnosed with polycystic liver disease before participation in the study, 39 were or had been symptomatic.
Of 97 previously undiagnosed at-risk individuals, 23 were affected, 39 were unaffected, and 35 were indeterminate.
Those patients with polycystic liver disease had higher levels of serum alkaline phosphatase and total bilirubin, compared with patients with a negative or indeterminate diagnosis.
They also had lower levels of total cholesterol and triglycerides.
|Female patients had a significantly higher mean cyst score than male patients.|
The research team found that female patients had a significantly higher mean cyst score than male patients.
In addition, the team detected structural mitral leaflet abnormalities more frequently in affected individuals.
Furthermore, a vascular phenotype was detected in 6% of the patients with isolated ADPLD diagnosed clinically and/or by linkage analysis, but in none of the unaffected patients.
Dr Qi Qian's team concluded, "Isolated ADPLD is underdiagnosed and genetically distinct from polycystic liver disease associated with ADPKD".
However, it has "similar pathogenesis, manifestations, and management".