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Diagnosis of familial amyloid polyneuropathy: wide-ranged clinicopathological features

Haruki Koike1, Gen Sobue

  • 1Nagoya University Graduate School of Medicine, Department of Neurology, Nagoya 466-8550, Japan +81 52 744 2385 ; +81 52 744 2384 ; sobueg@med.nagoya-u.ac.jp.

Expert Opinion on Medical Diagnostics
|March 19, 2013
PubMed
Abstract

Insights

Familial amyloid polyneuropathy (FAP) associated with transthyretin (TTR) Val30Met is more widespread than previously thought. Late-onset FAP ATTR Val30Met presents differently in non-endemic areas, requiring increased diagnostic awareness.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Familial amyloid polyneuropathy (FAP) is increasingly recognized due to advances in molecular diagnostics.
  • Transthyretin (TTR) Val30Met-associated FAP (FAP ATTR Val30Met) is the most prevalent subtype.
  • Previously thought to be geographically restricted, FAP ATTR Val30Met has a global distribution, including late-onset forms in non-endemic regions.

Purpose of the Study:

  • To characterize the clinical, electrophysiological, and histopathological variability of FAP ATTR Val30Met.
  • To compare early-onset FAP ATTR Val30Met from endemic foci with late-onset cases from non-endemic areas in Japan.

Main Methods:

  • Review of diagnostic techniques for FAP, with a focus on FAP ATTR Val30Met.
  • Comparative analysis of clinical, electrophysiological, and histopathological features between endemic and non-endemic FAP ATTR Val30Met cases.

Main Results:

  • Significant differences exist in clinical, electrophysiological, and histopathological features between FAP ATTR Val30Met patients from endemic and non-endemic areas.
  • Patients from non-endemic areas often exhibit nonspecific clinicopathological features compared to the classic FAP phenotype.

Conclusions:

  • Increased awareness of sporadic late-onset FAP ATTR Val30Met is crucial for accurate diagnosis.
  • Early clinical and electrophysiological evaluation is vital for identifying neuropathy of undetermined etiology, preventing missed diagnoses of FAP ATTR Val30Met.

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