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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

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Genetically Established Familial Amyloidotic Polyneuropathy from India: Narrating the Diagnostic "Odyssey" and a Mini

Madhu Nagappa1, Sanjib Sinha1, Anita Mahadevan2

  • 1Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Neurology India
|October 28, 2020
PubMed
Abstract

Insights

Familial amyloidotic polyneuropathy (FAP) is frequently misdiagnosed due to low clinician awareness and inadequate diagnostic work-up. Early and accurate diagnosis of FAP is crucial for timely intervention and potential treatment. Keywords: Familial amyloidotic polyneuropathy, FAP, diagnosis, misdiagnosis, clinician awareness, treatment.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Familial amyloidotic polyneuropathy (FAP) presents diagnostic challenges, often being mistaken for other neuropathic conditions.
  • This study focuses on the diagnostic journey of FAP in Indian families, highlighting common pitfalls.

Purpose of the Study:

  • To elucidate the diagnostic challenges and delays encountered in diagnosing Familial amyloidotic polyneuropathy (FAP) in Indian families.
  • To identify factors contributing to the misdiagnosis of FAP and emphasize the importance of accurate diagnosis.

Main Methods:

  • A cross-sectional, hospital-based study analyzing clinical, radiological, and histological data of genetically confirmed FAP patients.
  • Investigation included patient history, diagnostic referrals, and reasons for delayed diagnosis.

Main Results:

  • Patients experienced diagnostic delays ranging from 1 to 10 years, with initial misdiagnoses including familial dysautonomia, Shy-Drager syndrome, ataxia, CIDP, and porphyria.
  • Leptomeningeal involvement was misdiagnosed as tubercular meningitis.
  • Key reasons for delayed diagnosis included lack of clinician awareness, insufficient attention to family history, misleading lab results, and inadequate pathological examination (e.g., lack of Congo red stain).
  • Genetic analysis identified transthyretin gene variants: p.Gly73Glu, p.Val71Ala, and p.Val50Met.

Conclusions:

  • Delayed diagnosis of FAP is attributed to insufficient clinician and pathologist awareness and inadequate diagnostic procedures.
  • Prompt and accurate diagnosis is essential, particularly with emerging therapeutic options for FAP patients.
Keywords:
Chronic inflammatory demyelinating polyradiculoneuropathyCongo redfamilial amyloidotic polyneuropathyporphyriatransthyretin gene

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