Clinical Report: Diagnostic Dilemmas in Late-Onset ATTRv

Background

Hereditary transthyretin amyloidosis (ATTRv) is a progressive disease caused by mutations in the TTR gene, leading to significant clinical variability and often delayed diagnosis. The p.Ala117Ser mutation is particularly prevalent in certain populations and can present with atypical symptoms, complicating the diagnostic process. Recognizing these atypical features is crucial for timely intervention.

Data Highlights

No numerical data or trial data available in the article.

Key Findings

• The patient exhibited insidious-onset peripheral neuropathy, hoarseness, and cough over two years.
• Multiple consultations with specialists did not yield a definitive diagnosis until cardiac imaging and genetic testing were performed.
• Electrocardiography revealed low limb lead voltages, and echocardiography indicated increased echogenicity in the left ventricular wall.
• 99mTc-pyrophosphate scintigraphy confirmed cardiac amyloid deposition.
• The p.Ala117Ser mutation is associated with late-onset ATTRv, often misdiagnosed due to its atypical presentations.

Clinical Implications

Healthcare professionals should consider hereditary transthyretin amyloidosis in patients with unexplained peripheral neuropathy, especially when accompanied by atypical symptoms like hoarseness and cough. Early integration of cardiac imaging and genetic testing can facilitate timely diagnosis.

Conclusion

This case highlights the importance of recognizing atypical symptoms in diagnosing late-onset ATTRv. Prompt diagnostic measures can reduce the time to diagnosis.

Related Resources & Content

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2. Frontiers in Neurology, 2026 -- How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion
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4. Clinical Research in Cardiology, 2022 -- Early Detection of Cardiac Transthyretin Amyloidosis: Evaluating Imaging Techniques
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12. Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags - PubMed
13. Frontiers | When Peripheral Neuropathy Meets Hoarseness and Cough: A Diagnostic Challenge and Insights from a Case of Late-Onset ATTRv
14. Hereditary transthyretin amyloidosis with hand weakness and bulbar involvement - PubMed
15. The phenotypic landscape of p.Ala117Ser transthyretin amyloidosis: distinct clinical profiles and outcomes versus wild-type ATTR - PMC