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  • Open Access

Clinical and laboratory test in patients with familial amyloid polyneuropathy: differences between symptomatic patients and asymptomatic carriers

  • 1,
  • 1,
  • 1,
  • 1,
  • 2,
  • 3 and
  • 4
Orphanet Journal of Rare Diseases201510 (Suppl 1) :P30

https://doi.org/10.1186/1750-1172-10-S1-P30

  • Published:

Keywords

  • Family History
  • Clinical Stage
  • Symptomatic Patient
  • Blood Urea Nitrogen
  • Thyroid Function

Background

Transthyretin-associated Familial Amyloid Polyneuropathy (TTR-FAP) is a frequent disease in our community caused by the deposit of abnormal transthyretin on the tissues, mainly on the nerves. The clinical affectation and laboratory test alterations depend on the clinical stage and the moment of disease diagnosis.

Methods

A cross-sectional, observational study was performed. Medical records and laboratory test information of 20 patients: 10 symptomatic patients and 10 asymptomatic carriers.

Results

Out of a total of 20 patients: 14 women (70 %) with a median age of 47.5 years. All of asymptomatic carriers were diagnosed for family history and 90 % of the symptomatic patients had neurologic impairment demonstrated with pathological electroneurography (NC) (p=0.016). The symptomatic patients had higher variability of blood pressure both systolic (p=0.016) and diastolic (p=0.045) and of heart rate (p<0.005). Regarding laboratory test alterations this patients presented a decrease of free T4 (p<0.005) and an increase of cystatine C (p=0.046). As for the comparison by age-at-onset in 9 (45 %) cases the diagnosis was late-onset and 11 (55 %) early-onset. Mean age was 38.55 vs 61.56 years (p<0.005). The 63.6 % of the patients less than 50 years old were diagnosed for family history and all were asymptomatic, 62.5% of them had normal NC and 9.1 % were in clinical stage II. The late-onset in comparison with the other group had a decrease of total proteins (p=0.008) and an increase of Blood urea nitrogen (p<0.005) and cystatine C (p=0.04).

Conclusions

Symptomatic patients were diagnosed by the presence of neurologic symptoms by pathological NC, postural hypotension, and laboratory abnormalities of kidney and thyroid function. As to the comparison of age-at-onset, the early-onset has greater family history, minor number of affected organs, low neurological involvement and mild symptoms.

Authors’ Affiliations

(1)
Son Llátzer Hospital, Internal Medicine, 07198 Palma de Mallorca, Spain
(2)
Son Llátzer Hospital, Cardiology, 07198 Palma de Mallorca, Spain
(3)
Son Llátzer Hospital, Neurology, 07198 Palma de Mallorca, Spain
(4)
Son Llátzer Hospital, Digestive, 07198 Palma de Mallorca, Spain

Copyright

© Raya-Cruz et al. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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