The Inside-Out Itch: PFIC Surfaces in Adults
PFIC, a rare genetic liver disorder, can present in adults as a severe, internal itch (pruritus) driven by bile-acid buildup, often mistaken for a skin issue. Diagnosis is challenging because PFIC is traditionally seen as pediatric and standard imaging is usually normal, making genetic testing and symptom review crucial. The condition exists on a spectrum in adults, with varying severity, and awareness plus access to adult hepatology is key to timely diagnosis and management. Treatments like BYLVAY (odevixibat) can relieve PFIC- and ALGS-related itch, though there are gene-specific considerations and potential side effects; patient advocacy and networks aid in navigating diagnosis and care.