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      Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

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          Introduction: This study sought to estimate the global prevalence of transthyretin familial amyloid polyneuropathy (ATTR‐FAP). Methods: Prevalence estimates and information supporting prevalence calculations was extracted from records yielded by reference‐database searches (2005–2016), conference proceedings, and nonpeer reviewed sources. Prevalence was calculated as prevalence rate multiplied by general population size, then extrapolated to countries without prevalence estimates but with reported cases. Results: Searches returned 3,006 records; 1,001 were fully assessed and 10 retained, yielding prevalence for 10 “core” countries, then extrapolated to 32 additional countries. ATTR‐FAP prevalence in core countries, extrapolated countries, and globally was 3,762 (range 3639–3884), 6424 (range, 1,887–34,584), and 10,186 (range, 5,526–38,468) persons, respectively. Discussion: The mid global prevalence estimate (10,186) approximates the maximum commonly accepted estimate (5,000–10,000). The upper limit (38,468) implies potentially higher prevalence. These estimates should be interpreted carefully because contributing evidence was heterogeneous and carried an overall moderate risk of bias. This highlights the requirement for increasing rare‐disease epidemiological assessment and clinician awareness. Muscle Nerve 57: 829–837, 2018

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          Most cited references 14

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          National estimates of the prevalence of Alzheimer's disease in the United States.

          Several methods of estimating prevalence of dementia are presented in this article. For both Brookmeyer and the Chicago Health and Aging project (CHAP), the estimates of prevalence are derived statistically, forward calculating from incidence and survival figures. The choice of incidence rates on which to build the estimates may be critical. Brookmeyer used incidence rates from several published studies, whereas the CHAP investigators applied the incidence rates observed in their own cohort. The Aging, Demographics, and Memory Study (ADAMS) and the East Boston Senior Health Project (EBSHP) were sample surveys designed to ascertain the prevalence of Alzheimer's disease and dementia. ADAMS obtained direct estimates by relying on probability sampling nationwide. EBSHP relied on projection of localized prevalence estimates to the national population. The sampling techniques of ADAMS and EBSHP were rather similar, whereas their disease definitions were not. By contrast, EBSPH and CHAP have similar disease definitions internally, but use different calculation techniques, and yet arrive at similar prevalence estimates, which are considerably greater than those obtained by either Brookmeyer or ADAMS. Choice of disease definition may play the larger role in explaining differences in observed prevalence between these studies. Copyright © 2011 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.
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            Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal).

            Familial amyloidotic polyneuropathy (FAP-type I) was first described in Portugal by Andrade in 1952, a time when 54 among 64 patients (belonging to 25 families) originated from Póvoa do Varzim or its surrounding districts. Since then, a total of 1,233 patients, belonging to 489 pedigrees (so far unrelated), have been diagnosed at Centro de Estudos de Paramiloidose, Porto, Portugal. Although age-of-onset showed a wide range (17 to 78 years), 87% of these 1,233 patients developed symptoms before 40 years of age (mean 33.5, SD 9.4 years). Among all patients, 432 belong to 140 families originating from the area of Póvoa do Varzim/Vila do Conde, 330 of whom lived in that area at the time of diagnosis; age-of-onset was, on average, lower than in the overall group of patients (mean 31.1, SD 6.7 years), and no patient had onset after 57 years (versus 3.3% in the global sample). As in previous studies, women were found to have a later onset (33.7) than men (29.0) years. In 1991, the crude prevalence rate was 90.3 x 10(-5) (one in every 1,108 inhabitants), and the frequency of gene carriers was estimated to be 186 x 10(-5) (one in every 538); about 48.4% of these carriers had manifested symptoms by 1991. Female patients had a significantly higher number of children (mean 3.7, SD 2.6) than male patients (mean 2.7, SD 2.1) and the length of their reproductive period (mean 8.4, SD 5.8 yr) was also greater than for men (mean 5.6, SD 4.4 yr). Altogether, the 122 patients who ever reproduced contributed 457 children to the next generation, a mean fertility of 3.7. Further studies using a control groups may answer the question of whether this is the result of a specific high fertility of these patients or just their belonging to a population in natural expansion.
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              Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy.

              Familial amyloid polyneuropathy (FAP), which is a fatal disorder inherited in an autosomal dominant fashion, is characterized by systemic accumulation of polymerized transthyretin (TTR) in the peripheral nerves and systemic organs. Liver transplantation has become an accepted treatment of this disorder because it stops the major production of amyloidogenic TTR. However, improved survival of transplant patients compared with that of nontransplant patients has not been sufficiently demonstrated. This study investigated whether transplantation improved the long-term outcome of patients by comparing the survival of patients who had transplantations with that of patients who had not had transplantations. Eighty consecutive patients with FAP Val30Met who visited Kumamoto University Hospital between January 1990 and December 2010 were studied. The transplant group consisted of 37 patients who had a partial hepatic graft via living donor transplantation in Japan or who underwent liver transplantation in Sweden, Australia, or the United States. The nontransplant group consisted of 43 patients with FAP. Survival was evaluated by using Kaplan-Meier analysis, and the difference in survival was examined via the log-rank test. The transplant group had prolonged survival (p < 0.001) compared with the nontransplant group. The estimated probability of survival at 10 years was 56.1% for the nontransplant group vs 100% for the transplant group. Liver transplantation should be considered as an effective treatment in clinical management of patients with FAP Val30Met. This study provides Class III evidence that liver transplantation prolongs survival in patients with FAP Val30Met.

                Author and article information

                Muscle Nerve
                Muscle Nerve
                Muscle & Nerve
                John Wiley and Sons Inc. (Hoboken )
                01 February 2018
                May 2018
                : 57
                : 5 ( doiID: 10.1002/mus.v57.5 )
                : 829-837
                [ 1 ] Muenster University Hospital Muenster Germany
                [ 2 ] Federal University of Rio de Janeiro Rio de Janeiro Brazil
                [ 3 ] Pharmerit International Bethesda Maryland USA
                [ 4 ] BluePoint, LLC Chicago Illinois USA
                [ 5 ] Pfizer Inc New York New York USA
                [ 6 ] Pfizer Inc Groton Connecticut USA
                [ 7 ] Pfizer Inc Collegeville Pennsylvania USA
                Author notes
                [* ]Correspondence to: H. H. Schmidt; e‐mail: hepar@
                © 2017 The Authors Muscle & Nerve Published by Wiley Periodicals, Inc.

                This is an open access article under the terms of the License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

                Page count
                Figures: 3, Tables: 2, Pages: 9, Words: 4842
                Funded by: Pfizer Inc.
                Funded by: Pharmerit International
                Basic Science Research
                Basic Science Research
                Custom metadata
                May 2018
                Converter:WILEY_ML3GV2_TO_NLMPMC version:version= mode:remove_FC converted:11.05.2018


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