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oai:repisalud.isciii.es:20.500.12105/199742024-11-28T20:23:12Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967
Repisalud author Buades Reines, Juan author Ripoll-Vera, Tomás author Uson Martin, Mercedes author Andreu-Serra, Hernan author Company Campins, Maria Margarita author Dieguez Millan, Jose Miguel author Gallego-Lezaun, Cristina author Raya-Cruz, Manuel 2024-07-03T11:01:26Z 2024-07-03T11:01:26Z 2014-02-26 Buades-Reine'S J, Ripoll-Vera T, Uson Martin M, Andreu Serra H, Company Campins MM, Dieguez Millan JM, et al. Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llatzer Hospital descriptive study. Orphanet J Rare Dis. 2014 Feb 26;9:29. 10.1186/1750-1172-9-29 1750-1172 Orphanet Journal of Rare Diseases http://hdl.handle.net/20.500.13003/11333 24572009 L53033165 2-s2.0-84895928956 http://hdl.handle.net/20.500.12105/19974 335253200001 Background: Transthyretin-associated Familial Amyloid Polyneuropathy (TTR-FAP) is an autosomal dominant disease caused by the deposition of abnormal transthyretin that results from a gene mutation. Although rare worldwide, there are descriptions of several endemic foci, such as in Majorca, Balearic Islands, Spain. We aimed at describing a contemporary series of TTR-FAP patients in Son Llatzer Hospital in Majorca from an epidemiological point of view in order to report their main clinical and laboratory characteristics. Methods: A retrospective, observational study was performed. Medical records from adult patients diagnosed with TTR-FAP from a single hospital were reviewed. Results: Out of a total of 107 cases, 75 subjects were included: asymptomatic carriers (52.3%) and symptomatic patients (47.7%). Mean age was 58.3 years at the time of the study, and 50.7% were men. Mean age at diagnosis was 49.8 years. In addition, 42 patients (39.2%) had received a liver transplant, and time to liver transplantation was on average 29.56 months from the initial diagnosis. They all had the Val30Met mutation. The organs of the nervous system were those most frequently impaired (57.3%), and 83.9% of the symptomatic patients were fully ambulant (stage 1). Family history was reported in 69.3% of the cases, with the patient's father being the most commonly affected relative. Comorbidities were frequent, with high blood pressure being the most common. Conclusions: Our findings provide additional information on this condition and are useful for describing the demographic features, clinical presentation, diagnosis, and natural course of TTR-FAP in Majorca. eng Familial amyloid polyneuropathy TTR Amyloidosis Transthyretin Majorca Asymptomatic carriers Symptomatic patient Liver transplant Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llatzer Hospital descriptive study research article