Minimally invasive skin biopsies may be used to diagnose transthyretin amyloidosis and guide treatment in people with the rare progressive disease, according to the findings of a new study from Switzerland.
A team of scientists was able to identify the exact molecular structure of disease-driving toxic protein clumps using tiny amounts of skin collected from the ankle and thigh of a patient with hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) — demonstrating, for the first time, that it’s possible to do this type of molecular analysis in a living patient.