Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study

Orphanet Journal of Rare Diseases

Manuel Raya Cruz⁶  Cristina Gallego Lezaun⁶  José Miguel Diéguez Millán³  Ma Margarita Company Campins⁴  Hernán Andréu Serra⁵  Mercedes Uson Martín¹  Tomás Ripoll Vera²  Juan Buades Reinés⁶ 

[1] Neurology, Son Llàtzer Hospital, Mallorca, Spain;Cardiology, Son Llàtzer Hospital, Mallorca, Spain;Ophalmology, Son Llàtzer Hospital, Mallorca, Spain;Phatholoy Medicine, Son Llàtzer Hospital, Mallorca, Spain;Digestive Medicine, Son Llàtzer Hospital, Mallorca, Spain;Internal Medicine, Son Llàtzer Hospital, Ctra. Manacor, Km 4, 0 07198 Palma de Mallorca Illes Balears, Spain

关键词: Liver transplant;    Symptomatic patient;    Asymptomatic carriers;    Majorca;    Transthyretin;    Amyloidosis;    TTR;    Familial amyloid polyneuropathy;   

Others  :  866798
DOI  :  10.1186/1750-1172-9-29

 received in 2013-08-02, accepted in 2014-02-19,  发布年份 2014

【 摘 要 】

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 Llàtzer 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.

【 授权许可】

   
2014 Reinés et al.; licensee BioMed Central Ltd.

【 图 表 】

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