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Pruritus

All articles tagged with #pruritus

health27 days ago•8 min saved

Invisible Itch: How PFIC in Adults Can Mask a Liver Problem

Progressive familial intrahepatic cholestasis (PFIC) can cause severe internal itching in adults, often without visible skin signs and with normal liver imaging, leading to delays or misdiagnosis as a skin condition. PFIC is a spectrum, not just a childhood disease, and diagnosis relies on symptoms plus genetic testing rather than scans. Awareness is growing and treatments like BYLVAY (odevixibat) can relieve itch for many patients, though effectiveness varies by PFIC type and there are potential side effects; patients are advised to consult an adult hepatologist and connect with PFIC support networks for diagnosis and management.

via vox.com|

#genetics #health #liver-disease

health1 month ago•8 min saved

PFIC’s Hidden Burden: Adult Itching Signals a Rare Liver Disorder

Progressive familial intrahepatic cholestasis (PFIC) can cause severe internal itching in adults, often misdiagnosed because PFIC is treated as a pediatric disorder and imaging may appear normal. Diagnosis relies on symptom patterns and genetic testing to uncover underlying mutations, recognizing PFIC on a spectrum in adults with variable liver function. Awareness, patient advocacy, and resources like the PFIC Network help patients get answers, while treatments such as BYLVAY (odevixibat) offer relief for itch with careful monitoring for side effects and vitamin deficiencies.

via vox.com|

#adult-onset #genetic-testing #health

health1 month ago•8 min saved

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.

via vox.com|

#adult-onset #genetics #health