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Friedreich Ataxia (FA)

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Life Expectancy

Friedreich ataxia (FA) is a progressive degenerative condition in which the expression of a mitochondrial protein called frataxin is significantly decreased. Patients with FA present with progressive ataxia, hypertrophic cardiomyopathy, diabetes mellitus, scoliosis, foot deformities, and retained tendon reflexes.1

Life Expectancy Relative to Disease Onset

The rate of progression of FA is variable, with 10 years being the mean disease duration from symptom onset to wheelchair dependence.2 Several studies have reported rapid disease progression in patients with early-onset disease.3-5 A patient’s age at disease onset is linked to their number of known guanine-adenine-adenine (GAA) trinucleotide repeats, and more repeats are linked to a younger age of onset. Because of this, patients with early-onset FA have a wider range of more severe symptoms with more rapid disease progression and a shorter life expectancy.6

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Life Expectancy Relative to Complications and Comorbidities

Although the life expectancy of patients with FA has improved considerably in recent years, it is generally shorter than that reported in the general population. Besides age of disease onset,  a patient’s severity of symptoms and range of complications, such as diabetes and dilated cardiomyopathy, can affect their life expectancy. While many people with FA live until their 30s, some may survive into their 60s or beyond. The mean life expectancy is around 40 to 50 years. The most common cause of mortality is cardiac dysfunction (congestive heart failure or arrhythmia), which accounts for over 50% of deaths in patients with FA. Other causes of death include stroke, diabetic coma, ischemic heart disease, trauma sequelae, and bronchopneumonia.7-10

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Clinical Studies on Life Expectancy in FA

A large study from the early 1980s reported the mean age of death in patients with FA to be 37.5 years.11

A small study that examined the survival patterns of patients with FA diagnosed between 1945 and 1984 reported the median age of death to be 34.5 years.12

Another small retrospective study reported the median age of death as 41 years and the median estimated survival from disease onset as 36 years.13

In a more recent retrospective study, the majority of deaths occurred between the ages of 16 and 45 years, with a mean age of death of 36.5 years and a median age of death of 30 years.14,15

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References

  1. Williams CT, De Jesus O. Friedreich ataxia. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2022. Updated September 5, 2022. Accessed February 1, 2023.
  2. Dürr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med. 1996;335(16):1169-1175. doi:10.1056/NEJM199610173351601
  3. Reetz K, Dogan I, Costa AS, et al. Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Lancet Neurol. 2015;14(2):174-182. doi:10.1016/S1474-4422(14)70321-7
  4. Tai G, Yiu EM, Corben LA, Delatycki MB. A longitudinal study of the Friedreich Ataxia Impact Scale. J Neurol Sci. 2015;352(1-2):53-57. doi:10.1016/j.jns.2015.03.024
  5. Patel M, Isaacs CJ, Seyer L, et al. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016;3(9):684-694. doi:10.1002/acn3.332
  6. Prognosis of Friedreich’s ataxia. Friedreich’s Ataxia News. Accessed January 20, 2023.
  7. Bürk K. Friedreich ataxia: current status and future prospects. Cerebellum Ataxias. 2017;4:4. doi:10.1186/s40673-017-0062-x
  8. Friedreich’s ataxia (FA). Cleveland Clinic. Accessed February 1, 2023.
  9. Friedreich ataxia. Orphanet. Updated March 2014. Accessed February 1, 2023.
  10. What is Friedreich’s ataxia? Monash University. Accessed February 1, 2023.
  11. Harding AE. Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain. 1981;104(3):589-620. doi:10.1093/brain/104.3.589
  12. Leone M, Rocca WA, Rosso MG, Mantel N, Schoenberg BS, Schiffer D. Friedreich’s disease: survival analysis in an Italian population. Neurology. 1988;38(9):1433-1438. doi:10.1212/wnl.38.9.1433
  13. De Michele G, Perrone F, Filla A, et al. Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich’s disease: a retrospective study on 119 patients. Neurology. 1996;47(5):1260-1264. doi:10.1212/wnl.47.5.1260
  14. Tsou AY, Paulsen EK, Lagedrost SJ, et al. Mortality in Friedreich ataxia. J Neurol Sci. 2011;307(1-2):46-49. doi:10.1016/j.jns.2011.05.023
  15. Bidichandani SI, Delatycki MB. Friedreich ataxia. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2023. Updated June 1, 2017. Accessed February 1, 2023.

Reviewed by Hasan Avcu, MD, on 2/1/2023.

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