Primary aim of this study is to gather the patient population diagnosed as TTR related amyloidosis in Turkey in a single database. Secondary aims are to collect the genotype-phenotype related data, better understand and manage the course of the disease.

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant fatal disorder that results from the improper folding of mutant TTR protein, aggregating in various tissues and organs, especially the peripheral nervous system.

It is usually misdiagnosed because it is a rare disorder and genetic testing is not widespread available. Multicenter database studies will help early diagnosis/treatment and also better understanding the course of the disorder.

Database was organized with the involvement of 15 medical centers in Turkey. The study was predicted to be completed in 54 months. Patients over 18 years of age, diagnosed as TTR-FAP with molecular study and/or tissue analysis were included. Database included patient demographics, complaints, detailed neurologic and systemic physical examination, laboratory findings, stage of disease, comorbid diseases, and scales of daily living.

Till now, 44 patients (15 female, 29 male) with a mean age of 60±13 years have been registered in the database. The most common mutation is Val30Met. The distribution of the other mutations is as follows: Glu89Gln, Gly47Ala, Gly47Glu, Gly53Glu, Glu54Gly, Val32Ala, Asp18Asn and Ala45Thr. Eleven of the patients have been misdiagnosed previously.

26 patients had neuropathic pain, 14 had sexual dysfunction, 10 had carpal tunnel syndrome, 8 had dyshidrosis and 8 had orthostatic complaints. Cardiac involvement was predominant in 1 patient. The completion of patient registration and data income are in progress.

We believe that our study will contribute to the ATTR-FAP literature in terms of disease epidemiology and understanding of the disease progression as well as the genoytpe-phenotype correlation in this corner of the World.