From a misdiagnosis of anorexia nervosa to a dramatic patisiran-induced improvement in a patient with ATTRE89Q amyloidosis

Our patient experienced a nine-month period of patisiran treatment an improvement of neuropathic and nutritional involvement even more evident than those reported in the phase III clinical trial. Probably, this is secondary to the severe malnutrition she had when started the treatment; indeed the nutritional status resulted to be the outcome that more promptly improves, after only three months, and this normalisation may have had a positive effect on general strength and QoL. This report highlights the importance to suspect ATTRv amyloidosis in patients with unexplained malnutrition, espe- cially if a positive family history for undefined cardiomyop- athy or neuropathy is present, considering that new available drugs may permit to halt the disease course and in some instance to reverse clinical features. Real-life obser- vational studies are needed to integrate knowledge provided by randomised clinical trials.