HATTR italian registry: preliminary data from the collaborative network of telethon GUP 15010 study

Hereditary transthyretin amyloidosis (hATTR) is a life-threatening mul-tisystemic disease with sensory-motor peripheral neuropathy, cardio-myopathy and dysautonomia. An Italian national registry was plannedincluding tertiary centres for amyloidosis and for peripheral nerve dis-orders. So far 260 alive subjects were enrolled, with a large geneticheterogeneity up to 23 transthyretin (TTR) gene mutations, Phe64Leu(n. 65, 25%), Val30Met (n. 57, 21.9%) and Glu89Gln (n. 44, 16.9%)being the most frequent variants.155 are symptomatic patients and105 subjects are asymptomatic carriers.The mean age of onset of symptoms was 59.1 years (range:30-81) while the genetic diagnosis in the patients was made at themean age of 61 (range: 30-88). The three most represented variantswere different in terms of age of onset, clinical features and geograph-ical distribution. The most frequent symptoms at onset were sensorydisturbances (n. 100, 64.5%), CTS (n. 73, 47% - in 23 unilateral), mus-cular weakness and hypotrophy (n. 23, 14.8%), dyspnea (n. 22, 14.1%),weight loss (n. 17, 10.9%), sexual dysfunction (n. 17, 10.9%), constipa-tion and/or diarrhea (n. 14, 9%). A previous wrong diagnosis wasreported in 25 (16.1%) patients. CIDP was the most frequent misdiag-nosis made in 12 patients.In the Italian population, nerve or other tissue biopsy was rarelyperformed to confirm hATTR diagnosis. 89 patients (57.4%) weretreated with tafamidis, 18 patients (11.6%) with diflunisal. 9 patientshad liver transplantation, 1 heart transplantation and 2 combinedheart/liver transplantation. 18 patients were included in clinical trials.Major challenges for hATTR in Italy are to improve the patients’detection in all country regions and to increase the medical awarenessto early recognize the disease.Sponsored by Telethon FoundationNON-LENGHT DEPENDENT SMA