The Florence Register of amyloidosis: 20 years’ experience in the diagnosis and treatment of the disease in the Florence district area A. Cania 1,3 , F. Bergesio 1,2 , G. Curciarello 1,4 , F. Perfetto 1,3 , A. M. Ciciani 1,5 , S. Nigrelli 1,5 , B. Minuti 1,6 , A. L. Caldini 1,7 , S. Di Lollo 1,8 , C. Nozzoli 1,9 , & M. Salvadori 1,2 1 Florence Center for the study and treatment of Amyloidosis, Florence, Italy 2 Nephrology Department, Careggi University Hospital, Florence, Italy, 3 Department of Internal Medicine, Careggi University Hospital, Florence, Italy, 4 Department of Oncohematology, Ospedale Santa Maria Annunziata, Firenze, 5 Department of Nephrology, Azienda Sanitaria di Firenze, 6 Department of Genetic, Careggi University Hospital, Florence, Italy, 7 Department of Clinical Chemistry, Careggi University Hospital, Florence, Italy, 8 Department of Pathology, Careggi University Hospital, Florence, Italy, and 9 Department of Hematology, Careggi University Hospital, Florence, Italy Abstract: In order to improve the diagnosis of amyloidosis and allow a standardized therapeutic approach, 20 years ago we created a specific Centre in Florence with a Register dedicated to the disease. A local network was developed including other hospitals in the district of Florence to which patients could be referred. This provided us of a database including 218 patients of whom 195 affected by systemic amyloidosis: primary (AL), secondary (AA), heredofamilial (AF), and undetermined (UD), nine by localized disease and 14 by sub- clinical forms, that is without any signs of organ’s involvement. We describe our database with major clinical and laboratory characteristics at diagnosis and during follow-up. Median incidence of the last 5 years (2005–2009) is reported. Treatment strategy was in agreement with the Guidelines of the Italian Society of Amyloidosis, and a survey of major therapeutic options employed is described. Finally few critical points in diagnosis and treat- ment were emphasized. Introduction: Amyloidosis is a rare condition that through different pathogenetic mechanisms leads to the extracellular deposition of insoluble protein-derived fibrils [1]. Such fibrils have a characteristic beta-pleated sheet configuration that makes them particularly avid for Congo-red dye. The amyloidosis is classified according to the different precursor protein of fibrils and may be systemic or localized. Amyloid fibrils tend to accumulate within different tissues causing progres- sive organ dysfunction particularly severe when vital organs such as kidney, heart, or liver are involved. Prognosis is usually poor in systemic forms especially when heart is involved, and early diagnosis is mandatory to improve patients’ outcome. The actual incidence and prevalence of the disease is unknown, but it is believed to be largely under- diagnosed. AL Amyloidosis is the most frequent type, followed by AA amyloidosis [2]. Among heredofamilial amyloidosis (AF), mutations of trans- thyretin (TTR) are the most common [3], although in some geographic areas other mutations are also described [4]. In order to improve the knowledge on the disease, we created 20 years ago a specific centre and a register dedicated to the disease. A local network later developed including the other hospitals of the district of Florence, which eventually provided us of a wide database and of the opportunity to try to evaluate the incidence of the disease. Besides epidemiological and clinical activities, our Centre organized periodic up to date meetings in the referring hospitals within the health district around Florence (Tuscan Central Health District). A web site of our network was also available since 2009 at: www.amiloidosifirenze.it Methods: We describe our database with major demographic and clinical characteristics of patients both at diagnosis and during follow-up. The median incidence of the disease in the years 2005–2009 is reported according the different type of amyloidosis. All data are presented as medians with range. Survival curves were derived from Kaplan-Meier method. Factors affecting survival were valuated with multivariate analysis. Results and discussion: Two hundred eighteen patients were divided according to systemic (195) or localized amyloidosis (9). Fourteen patients without signs or symptoms of the disease were considered to have ‘subclical amyloidosis’. Among 195 cases of systemic amyloidosis, 95 (46.6%) were AL, 37 M and 58 F median age 74 years (range, 48–92); 41 (20.1%) AL with associated multiple myeloma 24 M and 17 F median age 74 years (range, 51–91); 24 (11.7%) AA 7 M and 17 F, median age 70 years (range, 43–91); 17 (8.3%) AF 12 M and 5 F median age 76 years (range, 42–89). The type of deposits remained undetermined in 17 cases, while one patient showed amyloid deposits characterized both by beta2-microglobulin and a light chain (‘mixed amyloidosis’). Rheumatoid arthritis was the most common cause of AA (more than 45%). About half of our patients with ATTR (47%) showed a Ile68Leu point mutation. Heart was the most frequently involved organ (51%), respectively 55 cases in AL (57.9%), 22 in 86 Amyloid Downloaded from informahealthcare.com by Azienda Ospedaliera Careggi on 10/01/14 For personal use only.