Familial amyloidosis epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2] Fahimeh Shojaei, M.D.

Overview

The incidence of amyloidosis is approximately 1.2 per 100,000 individuals per year worldwide. The mortality rate of systemic amyloidosis is approximately 100 per 100,000 deaths in developed countries. In amyloidosis, the mean age of presentation is 55 - 60 years. Men are more commonly affected by amyloidosis than women.

Epidemiology and Demographics

Incidence

  • The incidence of amyloidosis is approximately 1.2 per 100,000 individuals per year worldwide.[1]

Mortality rate

  • The mortality rate of systemic amyloidosis is approximately 100 per 100,000 deaths in developed countries.[2]

Age

Race

  • Hereditary amyloidosis subtypes include a substitution of an amino acid that is detected in approximately 4% of the African American population.[11]

Gender

  • Men are more commonly affected by amyloidosis than women.[12]

Region

  • Transthyretin-related hereditary amyloidosis is endemic in Portuguese locations Póvoa de Varzim and Vila do Conde (Caxinas), with more than 1000 affected people, coming from about 500 families, where 70% of the people develop the illness.[13][14][15][16][17][18][19][20][21][22][23]
  • In northern Sweden, more specifically Piteå, Skellefteå and Umeå, 1.5% of the population has the mutated gene.
  • There are many other populations in the world who exhibit the illness after having developed it independently.
  • The majority of gelsolin related amyloidosis cases are reported in the United States, Japan, Portugal, England, Germany, Spain, France, Brazil, Sewden, Denmark, the Czech Republic, and Iran.

References

  1. Khan MF, Falk RH (November 2001). "Amyloidosis". Postgrad Med J. 77 (913): 686–93. PMC 1742163. PMID 11677276.
  2. Pepys MB (2006). "Amyloidosis". Annu. Rev. Med. 57: 223–41. doi:10.1146/annurev.med.57.121304.131243. PMID 16409147.
  3. Shin YM (March 2011). "Hepatic amyloidosis". Korean J Hepatol. 17 (1): 80–3. doi:10.3350/kjhep.2011.17.1.80. PMC 3304630. PMID 21494083.
  4. Holmgren G, Steen L, Ekstedt J, Groth CG, Ericzon BG, Eriksson S, Andersen O, Karlberg I, Nordén G, Nakazato M (September 1991). "Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30)". Clin. Genet. 40 (3): 242–6. doi:10.1111/j.1399-0004.1991.tb03085.x. PMID 1685359.
  5. Borhani DW, Rogers DP, Engler JA, Brouillette CG (November 1997). "Crystal structure of truncated human apolipoprotein A-I suggests a lipid-bound conformation". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12291–6. doi:10.1073/pnas.94.23.12291. PMC 24911. PMID 9356442.
  6. Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ (April 1993). "Human lysozyme gene mutations cause hereditary systemic amyloidosis". Nature. 362 (6420): 553–7. doi:10.1038/362553a0. PMID 8464497.
  7. Gudmundsson G, Hallgrímsson J, Jónasson TA, Bjarnason O (1972). "Hereditary cerebral haemorrhage with amyloidosis". Brain. 95 (2): 387–404. doi:10.1093/brain/95.2.387. PMID 4655034.
  8. Ghiso J, Pons-Estel B, Frangione B (April 1986). "Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases". Biochem. Biophys. Res. Commun. 136 (2): 548–54. doi:10.1016/0006-291x(86)90475-4. PMID 3707586.
  9. Uemichi T, Liepnieks JJ, Benson MD (February 1994). "Hereditary renal amyloidosis with a novel variant fibrinogen". J. Clin. Invest. 93 (2): 731–6. doi:10.1172/JCI117027. PMC 293912. PMID 8113408.
  10. Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B (March 2001). "A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene". Genomics. 72 (3): 272–7. doi:10.1006/geno.2000.6499. PMID 11401442.
  11. Khan MF, Falk RH (November 2001). "Amyloidosis". Postgrad Med J. 77 (913): 686–93. PMC 1742163. PMID 11677276.
  12. Shin YM (March 2011). "Hepatic amyloidosis". Korean J Hepatol. 17 (1): 80–3. doi:10.3350/kjhep.2011.17.1.80. PMC 3304630. PMID 21494083.
  13. Quock TP, Yan T, Chang E, Guthrie S, Broder MS (May 2018). "Epidemiology of AL amyloidosis: a real-world study using US claims data". Blood Adv. 2 (10): 1046–1053. doi:10.1182/bloodadvances.2018016402. PMC 5965052. PMID 29748430.
  14. Ardalan, M. R.; Shoja, M. M. (2007). "Reply". Nephrology Dialysis Transplantation. 23 (3): 1071–1072. doi:10.1093/ndt/gfm586. ISSN 0931-0509.
  15. Suhr, Ole B (2019). "Commentary to Isabel Conceição et al. early diagnosis through targeted follow-up of identified carriers of TTR gene mutations". Amyloid. 26 (1): 1–2. doi:10.1080/13506129.2018.1558051. ISSN 1350-6129.
  16. Pihlamaa, Tiia; Rautio, Jorma; Kiuru-Enari, Sari; Suominen, Sinikka (2011). "Gelsolin Amyloidosis as a Cause of Early Aging and Progressive Bilateral Facial Paralysis". Plastic and Reconstructive Surgery. 127 (6): 2342–2351. doi:10.1097/PRS.0b013e318213a0a2. ISSN 0032-1052.
  17. Lachmann, Helen J.; Goodman, Hugh J.B.; Gilbertson, Janet A.; Gallimore, J. Ruth; Sabin, Caroline A.; Gillmore, Julian D.; Hawkins, Philip N. (2007). "Natural History and Outcome in Systemic AA Amyloidosis". New England Journal of Medicine. 356 (23): 2361–2371. doi:10.1056/NEJMoa070265. ISSN 0028-4793.
  18. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301373.
  19. Ikeda, Etsuko; Yagi, Kiyohito; Kojima, Midori; Yagyuu, Takahiro; Ohshima, Akira; Sobajima, Satoshi; Tadokoro, Mika; Katsube, Yoshihiro; Isoda, Katsuhiro; Kondoh, Masuo; Kawase, Masaya; Go, Masahiro J; Adachi, Hisashi; Yokota, Yukiharu; Kirita, Tadaaki; Ohgushi, Hajime (2008). "Multipotent cells from the human third molar: feasibility of cell-based therapy for liver disease". Differentiation. 76 (5): 495–505. doi:10.1111/j.1432-0436.2007.00245.x. ISSN 0301-4681.
  20. Morley, S. K.; Freeman, M. P.; Tanskanen, E. I. (2007). "A comparison of the probability distribution of observed substorm magnitude with that predicted by a minimal substorm model". Annales Geophysicae. 25 (11): 2427–2437. doi:10.5194/angeo-25-2427-2007. ISSN 1432-0576.
  21. Contégal F, Bidot S, Thauvin C, Lévèque L, Soichot P, Gras P; et al. (2006). "[Finnish amyloid polyneuropathy in a French patient]". Rev Neurol (Paris). 162 (10): 997–1001. PMID 17028568.
  22. Makioka, Kouki; Yamazaki, Tsuneo; Fujita, Yukio; Takatama, Masamitsu; Nakazato, Yoichi; Okamoto, Koichi (2010). "Involvement of endoplasmic reticulum stress defined by activated unfolded protein response in multiple system atrophy". Journal of the Neurological Sciences. 297 (1–2): 60–65. doi:10.1016/j.jns.2010.06.019. ISSN 0022-510X.
  23. Planté-Bordeneuve, Violaine; Said, Gerard (2011). "Familial amyloid polyneuropathy". The Lancet Neurology. 10 (12): 1086–1097. doi:10.1016/S1474-4422(11)70246-0. ISSN 1474-4422.

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