Skin Biopsy May Help Diagnose FAP in Early Stages for Treatment

A skin biopsy may help speed up the diagnosis of familial amyloid polyneuropathy (FAP), including for asymptomatic people with disease-causing mutations who are at higher risk of developing full-blown disease, according to a single-center retrospective study. This would allow patients, especially those with the Val30Met mutation, to receive treatment…

Patient Records Show ATTRv Amyloidosis Symptoms Years Before Diagnosis

People with hereditary transthyretin (ATTRv) amyloidosis, which includes familial amyloid polyneuropathy, experience multiple medical issues prior to diagnosis, with potential ATTRv markers commonly appearing in the year before, according to a recent study. A better understanding of patient experiences may help speed its recognition and diagnosis. The study, “…