Epidemiology of hereditary transthyretin amyloidosis in the northernmost region of Sweden: a retrospective cohort study

References

• Suhr OB, Svendsen IH, Andersson R, et al. Hereditary transthyretin amyloidosis from a Scandinavian perspective. J Intern Med. 2003;254(3):225–235.
   PubMed Web of Science ®Google Scholar
• Hellman U, Alarcon F, Lundgren HE, et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid. 2008;15(3):181–186.
   PubMed Web of Science ®Google Scholar
• Gorram F, Olsson M, Alarcon F, et al. New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden. Amyloid. 2021;28(2):84–90.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Lundgren E, Westermark P. One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition. J Intern Med. 2017;281(4):337–347.
   PubMed Web of Science ®Google Scholar
• Hemminki K, Li XJ, Forsti A, et al. Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. BMC Med Genet. 2013;14:88.
   PubMed Web of Science ®Google Scholar
• Mariani LL, Lozeron P, Theaudin M, et al. Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Ann Neurol. 2015;78(6):901–916.
   PubMed Web of Science ®Google Scholar
• Ihse E, Ybo A, Suhr OB, et al. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol. 2008;216(2):253–261.
   PubMed Web of Science ®Google Scholar
• Hellman U, Lång K, Ihse E, et al. Transthyretin Glu54Leu-an unknown mutation within the Swedish population associated with amyloid cardiomyopathy and a unique fibril type. Scand J Clin Lab Invest. 2019;79(6):372–376. 2019
   PubMed Web of Science ®Google Scholar
• Sousa A, Andersson R, Drugge U, et al. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered. 1993;43(5):288–294.
   PubMed Web of Science ®Google Scholar
• Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31.
   PubMed Web of Science ®Google Scholar
• Suhr OB, Ericzon BG. Selection of hereditary transthyretin amyloid patients for liver transplantation: the Swedish experience. Amyloid. 2012;19(sup1):78–80.
   PubMed Web of Science ®Google Scholar
• Ericzon BG, Wilczek HE, Larsson M, et al. Liver transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation. 2015;99(9):1847–1854.
   PubMed Web of Science ®Google Scholar
• Russo M, Gentile L, Toscano A, et al. Advances in treatment of ATTRv amyloidosis: state of the art and future prospects. Brain Sci. 2020;10(12):952.
   Web of Science ®Google Scholar
• Population Statistics [Internet]. Sweden: Statistics Sweden; 2021. [cited 2021 April 24]. Available from: https://www.scb.se/en/finding-statistics/statistics-by-subject-area/population/population-composition/population-statistics/.
   Google Scholar
• Paulsson Rokke H, Sadat Gousheh N, Westermark P, et al. Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis. Orphanet J Rare Dis. 2020;15(1):278.
   PubMed Web of Science ®Google Scholar
• Van Gameren II, Hazenberg BP, Bijzet J, et al. Diagnostic accuracy of subcutaneous abdominal fat tissue aspiration for detecting systemic amyloidosis and its utility in clinical practice. Arthritis Rheum. 2006;54(6):2015–2021.
   PubMedGoogle Scholar
• Fernández de Larrea C, Verga L, Morbini P, et al. A practical approach to the diagnosis of systemic amyloidoses. Blood. 2015;125(14):2239–2244.
   PubMed Web of Science ®Google Scholar
• Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404–2412.
   PubMed Web of Science ®Google Scholar
• Pilebro B, Suhr OB, Näslund U, et al. (99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis. Ups J Med Sci. 2016;121(1):17–24.
   PubMed Web of Science ®Google Scholar
• Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013;310(24):2658–2667.
   PubMed Web of Science ®Google Scholar
• Morris JK, Tan J, Fryers P, et al. Evaluation of stability of directly standardized rates for sparse data using simulation methods. Popul Health Metr. 2018;16(1):19.
   PubMedGoogle Scholar
• Statistikdatabas för dödsorsaker [Statistical database for causes of death] [Internet]. Sweden: The National Board of Health and Welfare; 2021. [cited 2021 April 24]. Available from: https://sdb.socialstyrelsen.se/if_dor/val.aspx.
   Google Scholar
• Wixner J, Karling P, Rydh A, et al. Gastric emptying in hereditary transthyretin amyloidosis: the impact of autonomic neuropathy. Neurogastroenterol Motil. 2012;24(12):1111–e568.
   PubMed Web of Science ®Google Scholar
• Wixner J, Westermark P, Ihse E, et al. The Swedish open-label diflunisal trial (DFNS01) on hereditary transthyretin amyloidosis and the impact of amyloid fibril composition. Amyloid. 2019;26(sup1):39–40.
   PubMed Web of Science ®Google Scholar
• Lehmann HC, Wunderlich G, Fink GR, et al. Diagnosis of peripheral neuropathy. Neurol Res Pract. 2020;2:20.
   PubMedGoogle Scholar
• Merlini G, Coelho T, Waddington Cruz M, et al. Evaluation of mortality during long-term treatment with tafamidis for transthyretin amyloidosis with polyneuropathy: clinical trial results up to 8.5 Years. Neurol Ther. 2020;9(1):105–115.
   PubMed Web of Science ®Google Scholar
• Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379(11):1007–1016.
   PubMed Web of Science ®Google Scholar
• Okamoto S, Wixner J, Obayashi K, et al. Liver transplantation for familial amyloidotic polyneuropathy: impact on Swedish patients’ survival. Liver Transpl. 2009;15(10):1229–1235.
   PubMed Web of Science ®Google Scholar
• Ando E, Ando Y, Maruoka S, et al. Ocular microangiopathy in familial amyloidotic polyneuropathy, type I. Graefes Arch Clin Exp Ophthalmol. 1992;230(1):1–5.
   PubMed Web of Science ®Google Scholar