Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases

Abstract

Symptomatic PCLD patients are mainly females. Females and mutation carriers were younger at diagnosis and had a more severe course of disease.

Medical and surgical treatment options for polycystic liver disease1

“…1,3 The prevalence of PCLD is not known, but it is likely underrecognized. 2 Although PCLD and ADPKD are distinct at the genetic level, both disorders have polycystic livers in common. The clinical presentation of ADPKD is well known, but the clinical profile of PCLD is poorly defined, and much of the information available so far stems from extrapolation of studies in ADPKD.…”

“…7,9 Indeed, 1 year of estrogen use in postmenopausal ADPKD patients selectively increases total liver volume by 7%, whereas total kidney volume remains unaffected. 2,10 Symptoms in PLD are probably secondary to the increased total liver volume. 10 As polycystic livers can grow up to 10 times their normal size, they compress adjacent abdominal and thoracic organs.…”

“…Other complications are infection, hemorrhage or rupture of a cyst, compression of the inferior cava, hepatic veins, or bile ducts, but these occur less frequently. 2 only 21% of patients a bonafide mutation can be found. 11,12 The protein products of these genes (hepatocystin and Sec63, respectively) act in concert to achieve proper topology and folding of integral membrane or secreted glycoproteins in the endoplasmic reticulum (ER).…”

“…Gamma glutamyl transferase (gGT) is elevated in 51% and a high alkaline phosphatase (AP) is seen in 17% of PCLD patients. 2 The elevated AP and gGT levels probably reflect activation of cholangiocytes. 9,[23][24][25][26] Serum transaminases are normal or only mildly elevated.…”

“…1 In autosomal dominant polycystic liver disease (PCLD), multiple hepatic cysts are the primary presentation, whereas polycystic kidneys are absent. 2 Traditionally, treatment consists of physical removal or emptying of cysts by a range of invasive techniques. 3 However, there has been considerable progress in the development of new medical modalities over the last few years.…”