Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain)

• Published in: Amyloid Vol. 12; no. 1; pp. 54 - 61
• Main Authors: Munar-Qués, Miguel, Saraiva, Maria JM, Viader-Farré, Carlos, Zabay-Becerril, José María, Mulet-Ferrer, Juana
• Format: Journal Article
• Language: English
• Published: England Informa UK Ltd 01.03.2005; Taylor & Francis; Taylor & Francis Ltd
• Subjects: Adult; Age of Onset; Aged; Aged, 80 and over; Amyloid Neuropathies, Familial - epidemiology; Amyloid Neuropathies, Familial - genetics; Amyloid Neuropathies, Familial - mortality; anticipation of age-at-onset; familial amyloid polyneuropathy; Female; Genetic Predisposition to Disease - genetics; haplotype I; Hereditary amyloidosis; Heterozygote; Humans; Male; Middle Aged; Mutation - genetics; Penetrance; Prevalence; Spain - epidemiology; Spain, Balearic Is; Survival Rate; Time Factors; TTRVal30Met mutation; Spain
• ISSN: 1350-6129; 1744-2818
• DOI: 10.1080/13506120500032741

Between 1976 and 2003, we diagnosed 144 patients with familial amyloid polyneuropathy (FAP) in the Balearic Islands (Spain). Analysis of genetic epidemiological data from 102 confirmed patients showed 62% were men. Parental transmission was paternal in 38, maternal in 25, and unknown in 39. No family history of FAP was found in 32 patients. TTRVal30Met associated with haplotype I was present in the individuals studied. Mean age-at-onset was 45.7 years which lies between that of Sweden and those of Portugal, Japan and Brazil. Duration of FAP was of 9.7 years. Age-at-onset, age-at-death, duration and fertility were similar between sexes. Twenty-nine intergeneration familial pairs of patients were ascertained. Raw anticipation was positive in twenty-four pairs, zero in one, and negative in four. Differences greater than 9 years between age-at-onset of the first and second member were considered relevant; positive relevant anticipation was found in 76% of the whole pairs. The frequency of positive anticipation of parent-child pairs was not significantly different than those described in the Swedish and Portuguese series. Significant positive correlation in age-at-onset was confirmed in twenty-seven types of pairs supporting the hypothesis that a genetic factor may modulate age-at-onset. The Balearic focus of FAP is expanding and constitutes a public health problem.