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Case 30 - Hereditary Transthyretin (TTR) Amyloidosis

from Peripheral Neuropathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 70-year-old man noticed a feeling of walking on cotton wool for the past two years. Numbness had progressed from the toes to the knees, and for half a year there was tingling and numbness in the fingertips. These complaints were symmetric and there was no pain. Walking had become insecure. For one year he had no erections, whereas sexual function had previously been normal. There were no other signs of autonomic dysfunction. In the past two years there was also shortness of breath on exertion. A diagnosis of cardiomyopathy had been made recently.

The family history revealed vitreous opacities in the father and several siblings. A brother also had sensory disturbances in his feet and a thickened heart muscle. His four daughters did not have any complaints.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 154 - 155
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Aimo, A, Castiglione, V, Rapezzi, C, et al. RNA-targeting and gene editing therapies for transthyretin amyloidosis. Nat Rev Cardiol 2022;19(10):655667. doi: 10.1038/s41569-022-00683-z. Epub 2022 Mar 23. PMID: 35322226.CrossRefGoogle ScholarPubMed
Carroll, A, Dyck, PJ, de Carvalho, M, et al. Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis. J Neurol Neurosurg Psychiatry 2022;93(6):668678. doi: 10.1136/jnnp-2021-327909. Epub 2022 Mar 7. PMID: 35256455; PMCID: PMC9148983.CrossRefGoogle ScholarPubMed
Gillmore, JD, Gane, E, Taubel, J, et al. CRISPR-Cas9 in vivo gene editing for transthyretin amyloidosis. N Engl J Med 2021;385(6):493502. doi: 10.1056/NEJMoa2107454. Epub 2021 Jun 26. PMID: 34215024.CrossRefGoogle ScholarPubMed
Kaku, M, Berk, JL. Neuropathy associated with systemic amyloidosis. Semin Neurol 2019;39(5):578588. doi: 10.1055/s-0039-1688994. Epub 2019 Oct 22. PMID: 31639841.Google ScholarPubMed
Magrinelli, F, Fabrizi, GM, Santoro, L, et al. Pharmacological treatment for familial amyloid polyneuropathy. Cochrane Database Syst Rev 2020;4(4):CD012395. doi: 10.1002/14651858.CD012395.pub2. PMID: 32311072; PMCID: PMC7170468.Google ScholarPubMed
Plante-Bordeneuve, V. Transthyretin familial amyloid polyneuropathy: an update. J Neurol 2018;265(4):976983. doi: 10.1007/s00415-017-8708-4. Epub 2017 Dec 16. PMID: 29249054.CrossRefGoogle ScholarPubMed
Wisniowski, B, Wechalekar, A. Confirming the diagnosis of amyloidosis. Acta Haematol 2020;143(4):312321. doi: 10.1159/000508022. Epub 2020 Jun 16. PMID: 32544917.CrossRefGoogle ScholarPubMed

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