Case Report: When peripheral neuropathy meets hoarseness and cough: a diagnostic challenge and insights from a case of late-onset ATTRv - Takeaways - MDSpire

Diagnostic Dilemmas in Late-Onset ATTRv: A Case Study of Peripheral Neuropathy Accompanied by Hoarseness and Cough

  • By

  • Lei Chen

  • Ling Zhu

  • Ye Deng

  • Ying Yuan

  • Wei Zhang

  • Yuting Fan

  • Long Luo

  • July 17, 2026

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  • 1

    Hereditary transthyretin amyloidosis (ATTRv) is a progressive disease caused by TTR gene mutations, often leading to delayed diagnosis.

  • 2

    The case study describes a 59-year-old man with late-onset ATTRv due to the c.349G > T (p.Ala117Ser) mutation presenting with peripheral neuropathy.

  • 3

    Atypical symptoms such as hoarseness and cough may indicate ATTRv, complicating the diagnostic process and leading to consultations with various specialists.

  • 4

    Cardiac imaging and genetic testing confirmed the diagnosis of ATTRv after two years of misdiagnosis and ineffective treatments.

  • 5

    The p.Ala117Ser mutation is prevalent in southeastern China and typically presents with late-onset symptoms and significant cardiac involvement.

Original Source(s)

Case Report: When peripheral neuropathy meets hoarseness and cough: a diagnostic challenge and insights from a case of late-onset ATTRv

  • by Lei Chen, Ling Zhu, Ye Deng, Ying Yuan, Wei Zhang, Yuting Fan, Long Luo

  • July 17, 2026

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