Burden of illness of progressive familial intrahepatic cholestasis in the US, UK, France, and Germany: study rationale and protocol of the PICTURE study

Ruiz-Casas, Leonardo; O’Hara, Sonia; Finnegan, Alan; Taylor, Alison; Ventura, Emily E.; Dhawan, Anil; Murray, Karen F.; Schattenberg, Jörn M.; Willemse, J.; Karakaidos, Melanie; Brrang, Harpreet

doi:10.1080/14737167.2021.1859371

Cited by 2 publications

(4 citation statements)

References 21 publications

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“…In our study, we aimed to determine the distribution, disease characteristics, and clinical outcomes of patients with PFIC in Saudi Arabia. We found that the most common type of PFIC was PFIC type 3 (59.5%) followed by PFIC type 2 (34.2%), PFIC type 1 (5.1%), and PFIC type 4 (1.3%), compared to many reports from other countries that estimate that the majority of individuals with PFIC have PFIC type 1 or type 2, while PFIC type 3 is present in 33% [15,18]. Although PFIC types are different, they share similar clinical presentation, mainly pruritus, and jaundice.…”

Section: Discussioncontrasting

confidence: 56%

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Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center

Alsohaibani,

Peedikayil,

Alfadley

et al. 2023

International Journal of Hepatology

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Background. Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disorder that results from defective mechanisms of bile secretion. We aim to describe different types of PFIC and their clinical features, treatment modalities, and outcomes in Saudi Arabia. Patients and Methods. This is a retrospective study of all patients diagnosed with PFIC at King Faisal Specialist Hospital and Research Center in Riyadh from January 1, 2002, to December 31, 2021. All relevant information was collected from patient charts and transferred into the REDcap® database for statistical analysis. Results. A total of 79 patients were identified with PFIC, and PFIC type 3 was the most common (59.5%), followed by PFIC type 2 (34.2%), PFIC type 1 (5.1%), and PFIC type 4 (1.3%). Males and females were affected in 54.4% and 45.6%, respectively. Mutations in ATP8B1, ABCB11, and ABCB4 genes were observed in PFIC type 1, PFIC type 2, and PFIC type 3, and loss of function in a variant of TJP2 was detected in PFIC type 4, respectively. A total of 51 (64.6%) patients underwent liver transplantation: three patients (3/4) with PFIC type 1 (75%), twenty patients (20/27) with PFIC type 2 (74.1%), twenty-seven patients (27/47) with PFIC type 3 (57.4%), and one patient with PFIC type 4 (100%). The mean duration of disease before transplantation was 53.9 ± 67 months with a median of 30 months. Following liver transplantation, symptomatic control was achieved in 47 patients (92.2%). Recurrence after transplantation occurred in 4 patients (7.8%) within an average of 22.5 months and a median of 17 months. Conclusion. PFIC is considered a rare disorder in Saudi Arabia; however, early recognition of the disease is important for appropriate management and early referral for liver transplantation evaluation. The overall rate of liver transplantation in our cohort was 64.6% with an excellent five-year survival rate.

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Section: Discussioncontrasting

confidence: 56%

“…PFIC type 4 is caused by a loss-of-function mutation in the tight junction protein 2 (TJP2), also called zona occludens 2, present on chromosome 9q21. PFIC type 5 results from mutations in the NR1H4 gene (chromosome 12q23), encoding FXR (farnesoid X receptor) gene [5,6,[13][14][15][16][17].…”

Section: Discussionmentioning

confidence: 99%

Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center

Alsohaibani,

Peedikayil,

Alfadley

et al. 2023

International Journal of Hepatology

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“…A retrospective analysis of data from the PICTURE study was conducted, the design and methods of which have been reported previously [ 18 ]. The PICTURE study was a cross-sectional burden of illness study of physician and caregiver-reported information for patients with PFIC type 1 or 2 in France, Germany, the United Kingdom and the United States from September 2020 through to March 2021.…”

Section: Methodsmentioning

confidence: 99%

“…Analogous work has shown significant caregiver burden including reduced HRQoL and work productivity among parents of children and adolescents with cystic fibrosis (another rare, genetic, early-onset condition with common organ transplantation and increased risk of mortality) [ 15 – 17 ]. To this end, the retrospective, cross-sectional PICTURE study was designed to investigate the clinical, humanistic and economic burden experienced by patients with PFIC and their caregivers, as well as societal costs of PFIC [ 18 ]. This paper addresses the self-reported HRQoL and work productivity outcomes captured by the PICTURE study, providing a better understanding of the impact of PFIC on caregivers in particular.…”

Section: Introductionmentioning

confidence: 99%

Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study

O’Hara

Grazzi

Murray

et al. 2022

Orphanet J Rare Dis

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Background Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare genetic diseases characterized by inadequate bile secretion that requires substantial ongoing care, though little research is published in this area. We report health-related quality of life (HRQoL) and work productivity outcomes from the retrospective, cross-sectional PICTURE study investigating the burden of PFIC on caregivers. Information from caregivers of patients with PFIC 1 or 2 in Germany, the United Kingdom and the United States from September 2020 to March 2021 was included. Results The PICTURE study sample comprised HRQoL responses from 22 PFIC caregivers. Patients were on average 8.2 years old; most caregivers were 30–49 years old (68%) and mothers (77%). Median CarerQoL-7D score was 67.7/100; mean CarerQoL-VAS score for general happiness was 5.7/10 (SD 2.1). Most caregivers reported fulfilment in their caregiving responsibilities, but problems with mental and physical health, finances, and relationships. When stratified by patient’s PFIC type, mean CarerQoL-7D and CarerQoL-VAS scores suggested worse HRQoL outcomes with PFIC2 versus PFIC1 (59.4 vs. 71.2, and 5.3 vs. 6.5, respectively). Additionally, more caregivers reported impact on sleep in the PFIC2 versus PFIC1 subgroup (93% vs. 75%). When stratified by history of PFIC-related surgeries, mean CarerQoL-7D and VAS scores were higher among those whose children had no specified surgeries (67.7 vs. 59.0/100 and 6.2 vs. 5.2/10, respectively). Nearly all caregivers reported an impact of caregiving responsibilities on sleeping (86%) and on personal relationships (82%). No caregivers reported having formal care support. Most caregivers were employed (73%); a third reported mean productivity loss of 12.9 days (SD 19.3) over the last 3 months, and a mean of 2.8 (SD 9.5) missed years of employment during their career. A higher number of workdays were missed by PFIC 2 caregivers compared to PFIC1 over last 3 months (16 days vs. 3 days). Conclusions The PICTURE study has demonstrated the prevalent, comprehensive, and meaningful burden that caring for an individual with PFIC has on caregivers. Despite fulfilment from caregiving, the breadth and depth of these responsibilities reduced caregiver reported HRQoL including mental and physical health, productivity, career prospects, sleep, relationships and finances.

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Burden of illness of progressive familial intrahepatic cholestasis in the US, UK, France, and Germany: study rationale and protocol of the PICTURE study

Cited by 2 publications

References 21 publications

Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center

Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center

Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study

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