ABSTRACT
The possibility of a patient with familial ATTR amyloidosis receiving a liver from an asymptomatic variant TTR carrier is remote [corrected].However, in 2008, it was reported that this unlikely event occurred in a patient in Portugal. We report our protocol for early diagnosis and management of this entity.
Subject(s)
Amyloidosis, Familial/diagnosis , Liver Transplantation , Prealbumin/genetics , Amyloid Neuropathies, Familial/diagnosis , Amyloid Neuropathies, Familial/etiology , Amyloid Neuropathies, Familial/genetics , Amyloid Neuropathies, Familial/therapy , Amyloidosis, Familial/etiology , Amyloidosis, Familial/genetics , Amyloidosis, Familial/therapy , Early Diagnosis , Humans , Liver/metabolism , Mutation , Prealbumin/metabolismABSTRACT
We report the case of a female patient with familial amyloid polyneuropathy (FAP) who demonstrated TTR amyloid deposition in the inferior nasal conchal vessels. To our knowledge this location has not been described previously in FAP; in addition, it was detected in a patient who had undergone successful liver transplantation (LTX) 4 years earlier. The amyloid deposition was found incidentally during examination of a right nasal obstruction caused by a nonspecific inflammatory polyp. Small focal deposits of amyloid TTR were observed on deep thick walled vessels, contrasting with the massive deposition reported in neoformed vessels in amyloidomas. This amyloid was clearly deposited between the onset of FAP and LTX and had probably decreased since the graft. If amyloid deposition is frequent in inferior nasal concha in FAP, this location could be a suitable biopsy site.
Subject(s)
Amyloid Neuropathies, Familial/genetics , Amyloid Neuropathies, Familial/metabolism , Amyloid/metabolism , Nasal Polyps/metabolism , Prealbumin/metabolism , Amino Acid Substitution , Amyloid/genetics , Amyloid Neuropathies, Familial/pathology , Amyloid Neuropathies, Familial/surgery , Female , Heterozygote , Humans , Liver Transplantation , Middle Aged , Nasal Cavity/blood supply , Nasal Cavity/metabolism , Nasal Cavity/pathology , Nasal Polyps/pathology , Prealbumin/geneticsABSTRACT
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.
