Polycystic liver disease shows significant differences between male and female patient populations in terms of symptom severity, age of diagnosis and radiological characteristics but with similar rates of complications

Introduction

Polycystic liver disease (PLD) is a rare genetic disease of the liver that can significantly affect quality of life (QoL) of patients and cause serious complications. The PLD-specific Questionnaire (PLD-Q) score (which can vary from 0 to 100) can objectively assess severity of PLD-related symptoms. We wished to assess whether PLD-Q scores varied between different demographic groups with PLD.

Aims

We investigated gender-based variations in the disease in terms of symptom burden, age of diagnosis, cyst characteristics (number and size of liver cysts assessed radiologically) and frequency of complications (abdominal hernias, cyst rupture and/or haemorrhage, cyst infections).

Methods

We calculated PLD-Q scores in 47 fully phenotyped PLD patients, where 30 were females and 17 were males. We also determined the age of PLD diagnosis from available records in the two groups. We further compared radiological characteristics including Qian’s grade (based on number of liver cysts) and presence of dominant cyst(s)( cyst size >8 cm), between the two genders and the rate of complications.

Results

The mean PLD-Q score in women was 41.1 while the median was 39.5. The mean PLD-Q score in men was 24.9 with a median score of 26. The mean PLD-Q score in women was higher than that in men by 16.2 and the difference was highly statistically significant (p=0.0031 at 95% CI, using two-tailed independent sample t-test). The mean age of PLD diagnosis in women was 48 years which was 9.8 years earlier than that in men (57.8 years) (p=0.032 at 95% CI, using two-tailed independent sample t-test). Of 27 female patients, 4 (~15%) had Qian’s Grade 2 disease (11–20 liver cysts), 13 (~48%) had Grade 3 cysts (>20 cysts) while 10 (~37%) had Grade 4 cysts (>20 cysts with symptomatic hepatomegaly). In the male group of 13 patients, the respective numbers were 3 (~23%), 9 (69%) and 1 (8%). With regards to complications, 10 out of 30 female patients (33.33%) had at least one complication while 6 out of 18 male patients (33.33%) had the same.

Discussion

Our data suggests that women with PLD tend to have more severe symptoms and are diagnosed at an earlier age compared to men. Grade 4 liver cysts are much more common in women. Interestingly, the disease seems to have the same frequency of complications in the two genders in our study population.