Neurol. praxi. 2022;23(5):406-411 | DOI: 10.36290/neu.2022.056

Family with hereditary transthyretin amyloidosis - case report

MUDr. Tomáš Bauer
Neurologická ambulance, Sokolov

Hereditary transthyretin amyloidosis is a rare disease with an often fatal course. Due to the currently available treatment options in the first stages, diagnostic vigilance and targeted search for patients with it is necessary. The article briefly summarizes the current knowledge about the disease, diagnostic pitfalls, the recommended treatment procedure and presents the case of the first family discovered in the Czech Republic.

Keywords: amyloidosis, transthyretin, hATTR, wtATTR, TTR-FAP, polyneuropathy.

Received: July 17, 2022; Revised: August 31, 2022; Accepted: September 9, 2022; Prepublished online: September 9, 2022; Published: October 6, 2022  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Bauer T. Family with hereditary transthyretin amyloidosis - case report. Neurol. praxi. 2022;23(5):406-411. doi: 10.36290/neu.2022.056.
Download citation

References

  1. Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2021;268(6):2109-2122. doi: 10.1007/s00415-019-09688-0. Epub 2020 Jan 6. Go to original source... Go to PubMed...
  2. Gorevic P, Franklin J, Chen J, et al. Indirect treatment comparison of the efficacy of patisiran and inotersen for hereditary transthyretin-mediated amyloidosis with polyneuropathy. Expert Opinion on Pharmacotherapy. 2021;22(1):121-129. doi: 10.1080/14656566.2020.1811850. Go to original source... Go to PubMed...
  3. Chandrashekar P, Alhuneafat L, Mannello M, et al. Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review. Circ Genom Precis Med. 2021;14(5): e003356. doi: 10.1161/CIRCGEN.121.003356. Go to original source... Go to PubMed...
  4. Inês M, Coelho T, Conceição I, et al. Epidemiology of Trans­thyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study. Neuroepidemiology. 2018;51(3-4):177-182. doi: 10.1159/000490553. Go to original source... Go to PubMed...
  5. Inomata T, Tahara N, Nakamura K, et al. Diagnosis of wild-type transthyretin amyloid cardiomyopathy in Japan: red-flag symptom clusters and diagnostic algorithm. ESC Heart Fail. 2021;8(4):2647-2659. doi: 10.1002/ehf2.13473. Go to original source... Go to PubMed...
  6. Karam C, Dimitrova D, Christ M, Heitner SB. Carpal tunnel syndrome and associated symptoms as first manifestation of hATTR amyloidosis. Neurol Clin Pract. 2019;9(4):309-313. doi:10.1212/CPJ.0000000000000640. Go to original source... Go to PubMed...
  7. Laštovičková J. Hereditární amyloidóza s defektem transthyretinu a její neurologické projevy. Neurol. praxi. 2011;12(2): 142-144.
  8. Luigetti M, Romano A, Di Paolantonio A, et al. Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care. Ther Clin Risk Manag. 2020;16:109-123. Published 2020 Feb 21. doi:10.2147/TCRM.S219979. Go to original source... Go to PubMed...
  9. Luigetti M, Romozzi M, Bisogni G, et al. hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers. Brain Sci. 2020;10(11):780. doi: 10.3390/brainsci10110780. Go to original source... Go to PubMed...
  10. Maurer MS, Bokhari S, Dorbala S, et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Fail. 2019;12(9). doi: 10.1161/circheartfailure.119.006075 Go to original source... Go to PubMed...
  11. Pepys MB. Amyloidosis. Annu Rev Med. 2006; 57:223-41. doi: 10.1146/annurev.med.57.121304.131243. Go to original source... Go to PubMed...
  12. Pika T, Látalová P, Hůlková H, et al. Familiární amyloidová polyneuropatie - kazuistika. Cesk Slov Neurol N. 2015;78/111(6):710-714, doi: 10.14735/amcsnn2015710. Go to original source...
  13. Potočková V. Projekt celonárodního screeningu hereditární transthyretinové amyloidové polyneuropatie v ČR. Neurol. praxi. 2021; 22(Suppl D).
  14. Rowczenio DM, Noor I, Gillmore JD, et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat. 2014;35(9):E2403-12. doi: 10.1002/humu.22619. Go to original source... Go to PubMed...
  15. Salvalaggio A, Coraci D, Cacciavillani M, et al. Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers. J Neurol. 2021;268(1):189-198. doi: 10.1007/s00415-020-10127-8. Go to original source... Go to PubMed...
  16. Sidiq MH, McPhail ED, Theis JD, et al. Two types of amyloidosis presenting in a single patient: a case series. Blood Cancer J. 2019;930. https://doi.org/10.1038/s41408-019-0193-9. Go to original source... Go to PubMed...
  17. Tozza S, Severi D, Spina E, et al. The neuropathy in hereditary transthyretin amyloidosis: A narrative review. J Peripher Nerv Syst. 2021;26(2):155-159. doi:10.1111/jns.12451. Go to original source... Go to PubMed...
  18. Sikora J, Kmochová T, Mušálková D, et al. A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis. Kidney Int. 2022;101(2):349-359. doi: 10.1016/j.kint.2021.09.007. Go to original source... Go to PubMed...
  19. Špalek P, Martinka I, Chandoga J. Hereditárna amyloidná transtyretínová polyneuropatia: klinickmé formy, diagnostika a liečba. Neurológia. 2020;15(1):17-23.
  20. Špalek P. Čtyři rodiny s hATTR-PN u našich blízkých sousedů. 33. český a slovenský neurologický sjezd, Praha, 27.-30. 11. 2019.




Neurology for Practice

Madam, Sir,
please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

I declare:

  1. that I have met the above instruction
  2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited


No

Yes

If your statement is not true, please be aware
that brings the risk of danger to their health or the health of others.