Deirdre Kelly, MD, FRCP, FRCPI, FRCPCH, Consultant Pediatric Hepatologist, Liver Unit, Birmingham Women’s and Children’s Hospital and University of Birmingham, discusses the diminished quality of life associated with being a caregiver for a progressive familial intrahepatic cholestasis (PFIC) patient.
PFIC is a rare genetic disorder that causes progressive, life-threatening liver disease due to an inability to properly remove bile acids from the liver. The most common manifestation of PFIC is pruritus, which often results in a severely diminished quality of life.
There are many types of PFIC but the two most common are Type 1 (PFIC1 and Type 2 (PFIC2). PFIC1 presents in infancy or early childhood and is caused by mutations in the ATP8B1 (or FIC1) gene. PFIC1 typically manifests with a moderate to severe intensity: children may have severe itching (pruritus), an enlarged liver (hepatomegaly) and may also have extrahepatic symptoms, including watery diarrhea, pancreatitis, deafness and short stature or failure to thrive. Children with PFIC1 may experience end-stage liver disease within the first decade of life.
Type 2 (PFIC2) is caused by a malfunctioning copy of the ABCB11 gene. It is also typically diagnosed in early childhood. PFIC2 shows rapid disease progression, with severe itching, hepatomegaly, and a risk for hepatocellular carcinoma and cholesterol stones, but extrahepatic manifestations are rarely encountered in PFIC2 patients.
As Dr. Kelly explains, PFIC can have a significant impact on caregiver’s quality of life, as revealed in the 2022 multinational PICTURE study, which was recently published in Orphanet Journal of Rare Disease. The study sample (N=22) comprised health related quality of life (HR-QoL) responses, using the validated 7-dimension CarerQoL-7D and the caregiver HRQoL visual analog scale. The results of the study found the median CarerQoL-7D score was 67.7/100, and the mean CarerQoL-VAS score for general happiness was 5.7/10. Most caregivers reported fulfillment 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 HR-QoL 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 compared to the 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 over the last 3 months, and a mean of 2.8 missed years of employment during their career. A higher number of workdays were missed by PFIC 2 caregivers compared to PFIC1 over the last 3 months (16 days vs. 3 days).
To learn more about PFIC and other rare metabolic diseases, visit checkrare.com/diseases/metabolic-disorders/