Familial TTR amyloid polyneuropathy (FAP TTR): investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Familial TTR amyloid polyneuropathy (FAP TTR): investigations. This is more sensitive than fat aspirate or skin biopsy.
Nerve biopsy
- This is more sensitive than fat aspirate or skin biopsy
- It is indicated in the absence of a family history
- It is also indicated in low prevalence areas
Cardiac investigations
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Other investigations
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References
- Ando Y, Coelho T, Berk JL, et al. Guideline for transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013; 8:31.
- Panrudkevich AH, Jones FJS, Shouman K, et al. Sensitivity of nerve and skin biopsy and fat aspirate for amyloid in symptomatic hereditary ATTR amyloidosis with peripheral neuropathy. Neurology 2026; 106:e218033.
- Ton VK, Bhonsale A, Gilotra NA, et al. Baseline characteristics predict the presence of amyloid on endomyocardial biopsy. J Card Fail 2017; 23:340-344.
- Ebenezer GJ, Liu Y, Judge DP, et al. Cutaneous nerve biomarkers in transthyretin familial amyloid polyneuropathy. Ann Neurol 2017; 82:44-56.
- Misumi Y, Ueda M, Yamashita T, et al. Novel screening for transthyretin amyloidosis by using fat ultrasonography. Ann Neurol 2017; 81:604-608.
