Abstract

MARQUES, Andreia Sofia Ferreira  and  GARCES, Marisa Daniela Correia. Late-onset familial amyloid polyneuropathy: a challenging diagnosis. Rev Port Med Geral Fam [online]. 2018, vol.34, n.5, pp.322-326. ISSN 2182-5173.  https://doi.org/10.32385/rpmgf.v34i5.11945.

Introduction: Familial amyloid polyneuropathy (FAP) is a hereditary amyloidosis that presents with a progressive, mixed neuropathy (sensory, autonomic and motor). This case shows the importance of the family physician in the diagnosis of this pathology, while highlighting the main difficulties of performing the diagnosis at advanced ages, and when there are no other documented cases in the family. Case report: A 71-year-old woman with a personal history of ductal carcinoma in situ, carpal tunnel syndrome, and adenomatous multinodular goiter. Over the past 5 years, she has had multiple non-specific complaints, including chronic constipation, neuralgia and paresthesias of the hands and feet, progressive loss of control of the urinary sphincter, progressive locomotor activity deterioration, and weight loss. There was no family history of PAF except a 65-year-old sibling diagnosed with late-onset PAF with complaints of paresthesias of the hands and feet. This information alerted to the hypothesis of a diagnosis of FAP, which would justify the multiple complaints of the patient, and which was confirmed by genetic testing. Comment: This clinical case describes a series of particularities that should alert us to the fact that this pathology may arise with a different pattern than the one described by Corino de Andrade: the age of onset, the absence of affected parents, as well as the presence of the disease in families that are not originally from Póvoa de Varzim. Thus, the knowledge of late variants of PAF as the one presented in this case report is fundamental to raise awareness on less typical clinical presentations, thus allowing an early diagnosis.

Keywords : Familial amyloid neuropathies; Paresthesia.

        · abstract in Portuguese     · text in Portuguese     · Portuguese ( pdf )