Polycystic liver disease
Enfermedad poliquística hepática
C. Albandea Moreno, V. M. Aguilar Urbano, F. Fernández Pérez, R. Rivera Irigoín, J. Gonzalo Marín and A. Sánchez Cantos
Service of Digestive Diseases. Hospital Costa del Sol. Marbella. Málaga, Spain
]]> Case report
A 54-year-old man had an asymptomatic elevation of cytolysis-related enzymes, GGT, and alkaline phosphatase, detected at a routine laboratory study. The patient reported no alcohol abuse, no history of liver disease, and no constitutional syndrome. Physical examination showed a good general status, normal colored skin and mucosas, and no stigmata of chronic liver disease. The abdomen was soft, depressible, and slightly tender in the right hypochondrium with hepatomegaly of three finger-widths. There were no signs or symptoms of ascites. A laboratory study for liver disease was also negative. An initial ultrasound study showed the presence of multiple, well-defined anechoic lesions with posterior acoustic enhancement, distributed across the hepatic parenchyma; the kidneys were free of lesions. The study was completed with a liver MRI, which showed hypointense lesions resembling cerebrospinal fluid (CSF) on T1-weighted images, whereas in T2-weighted images with fat saturation lesions were hyperintense (Figs. 1 and 2).
Discussion
Polycystic liver disease is an autosomal dominant hereditary disorder characterized by the presence of multiple disperse cysts of biliary origin in the liver. Liver cysts often present during the fourth decade of life. A gene related to this disease has been localized on chromosome 19. Certain mutations in the PRKCSH gene, which codes for the substrate protein 80K-H of protein kinase C, have recently been reported to be associated with this disease (1). Most patients are asymptomatic and the diagnosis is usually incidental. When this is not the case, typical symptoms include painful hepatomegaly, abdominal distension, a feeling of fullness, or lumbar pain (2). Very occasionally symptoms derive from cyst complications (rupture, infection, malignancy) (3). Treatment is symptomatic. Surgery is required for patients with cysts larger than 10 cm or with complications, such as intracystic hemorrhage, infection not susceptible to interventional radio-logy, or in cases of suspected or confirmed cystic malignancy (3).
References
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2. Peces R, González P, Venegas JL. Enfermedad poliquística hepática no asociada a poliquistosis renal autosómica dominante. Nefrología 2003; 23: 454-8. [ Links ]
3. Newman KD, Torres VE, Rakela J, Nagorney DM. Treatment of highly symptomatic polycycstic liver disease. Preliminary experience with a combined hepatic resection-fenestration procedure. Ann Surg 1990; 212: 30-7. [ Links ] ]]>