Development and Validation of a Disease‐Specific Questionnaire to Assess Patient‐Reported Symptoms in Polycystic Liver Disease

Abstract

Treatment of polycystic liver disease (PLD) focuses on symptom improvement. Generic questionnaires lack sensitivity to capture PLD-related symptoms, a prerequisite to determine effectiveness of therapy. We developed and validated a disease-specific questionnaire that assesses symptoms in PLD (PLD-Q). We identified 16 PLD-related symptoms (total score 0–100 points) by literature review and interviews with patients and clinicians. The developed PLD-Q was validated in Dutch (n=200) and US (n=203) PLD patients. We assessed the correlation of PLD-Q total score with EORTC symptom scale, global health visual analogue scale (VAS) of EQ-5D and liver volume. To test discriminative validity, we compared PLD-Q total scores of patients with different PLD-severity stages (Gigot classification), and PLD-Q total scores of PLD patients with general controls and polycystic kidney disease patients without PLD. Reproducibility was tested by comparing original test scores with two week retest scores. In total, 167 Dutch and 124 US patients returned the questionnaire. Correlation between PLD-Q total score and EORTC symptom scale (NL r=0.788; US r=0.811) and global health VAS (NL r=−0.517; US r=−0.593) was good. There was no correlation of PLD-Q total score with liver volume (NL r=0.138, P=0.236; US r=0.254, P=0.052). Gigot type III individuals scored numerically higher than type II patients (NL 46 vs. 40, P=0.089; US 48 vs. 36, P=0.055). PLD patients scored higher on the PLD-Q total score than general controls (NL 42 vs. 17; US 40 vs. 13 points) and polycystic kidney disease patients without PLD (22 points). Reproducibility of PLD-Q was excellent (NL r=0.94 and US 0.96). Conclusion PLD-Q is a valid, reproducible and sensitive disease-specific questionnaire which can be used to assess PLD-related symptoms in clinical care and future research.

Portal hypertension in polycystic liver disease patients does not affect wait-list or immediate post-liver transplantation outcomes

“…A final note is caution to the estimated 15-year post-transplantation survivals with no obvious difference found between the groups ( P = 0.138). In a recent study from Neijenhuis et al[47] a disease specific questionnaire was developed and validated in a European and United States cohort. Moving forward, this questionnaire could be used in prospective studies involving the PH-component of PCLD.…”

Severity in polycystic liver disease is associated with aetiology and female gender: Results of the International PLD Registry

“…Grade 0; 0 cysts, Grade 1; 2‐10 cysts (Grade 0 and 1 are not present in this cohort as corresponds to our inclusion criteria), Grade 2; 11‐20 cysts, Grade 3; >20 cysts, Grade 4; >20 cysts and symptomatic hepatomegaly . Symptomatic disease was defined as having one or more symptoms in the PLD Questionnaire (PLD‐Q) or the POLCA score, such as abdominal pain, early satiety and abdominal distension and likely to be associated with hepatomegaly . In addition we classified PLD as mild (hTLV <1600 mL/m), moderate (hTLV 1600‐3200 mL/m) and severe (hTLV >3200 mL/m) …”

“…14 Symptomatic disease was defined as having one or more symptoms in the PLD Questionnaire (PLD-Q) or the POLCA score, such as abdominal pain, early satiety and abdominal distension and likely to be associated with hepatomegaly. 15,16 In addition we classified PLD as mild (hTLV <1600 mL/m), moderate (hTLV 1600-3200 mL/m) and severe (hTLV >3200 mL/m). 4…”

Management of portal hypertension and ascites in polycystic liver disease

“…15,19 As these overlap with symptoms caused by hepatomegaly in PLD, it can be challenging to discriminate between liver growth and ascites. 19,20 Key points Cross-sectional data show that 5% of ADPLD patients developed ascites during follow-up. 11 In a retrospective study of 461 ADPKD patients from South Korea, prevalence of ascites on imaging was 16.6% for the whole group.…”

“…The accumulation of fluid within the peritoneal cavity further increases intra‐abdominal pressure leading to pressure‐related symptoms such as dyspnoea, abdominal distension, abdominal pain, increased weight and decreased quality of life of the polycystic patient . As these overlap with symptoms caused by hepatomegaly in PLD, it can be challenging to discriminate between liver growth and ascites …”