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Women and Fabry Disease

Heterozygous women are not just carriers

It is a common misconception that females are just carriers of a defective GLA gene. Heterozygous women with Fabry disease can experience a variable presentation, ranging from asymptomatic or mild symptoms to symptoms that are just as severe and multisystemic as those experienced by male patients, such as cardiac, renal, and cerebrovascular complications.1-3

On average, many women are not diagnosed until about 16 years after symptoms first appear.4 Symptoms in women tend to occur at a later age than in men4,5 and typically have a more drawn-out or lengthened course of disease compared with men.6

Common symptoms in women with Fabry disease7

Symptom variability may be due to X-chromosome inactivation

Variability of symptoms and presentation in women with Fabry disease may be explained through X-chromosome inactivation, or lyonization. This takes place when 1 of the 2 X-chromosomes becomes inactivated inside female embryonic cells. This causes affected females with Fabry disease to have a mix of both normal and mutant cells, thus causing varied expression of the disease.5,7

Women with Fabry disease experience more than just physical symptoms

Pain and QoL

The pain experienced with Fabry disease is different from other neuropathic pain conditions.8 According to one study, 52% of women reported experiencing pain at some point in their lifetime.8 A vast majority described their pain as “burning.”8 When it comes to pain intensity, location, and frequency, a large international study found that the data were comparable between men and women.9 In addition, pain has a severe impact on quality of life. In general, women with Fabry disease have a decreased quality of life compared to the general population.10

Depression and QoL

Depression is often an underdiagnosed, under-reported problem in Fabry disease and reduces quality of life. In general, 46% of patients have depression.5 In another study, about one-third of women living with Fabry disease admitted to feelings of depression, anxiety, fatigue, and frustration.11

Impact on childbearing

Women often report having negative feelings about passing Fabry disease on to their children. One of the most difficult parts of having the disease is the risk of passing it on to future generations.12 In one study, almost half of women of childbearing age reported being against bearing more children because of the disease.11

Genetic testing may lead to a more personalized management approach.

Identification of the genetic mutation specific to a woman with Fabry disease may provide insight into the unique nature of her disease, which can lead to a more personalized approach to disease management.13,14

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References:

  1. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
  2. Mehta A, Clarke JTR, Giugliani R, et al, for the FOS Investigators. Natural course of Fabry disease: changing pattern of death in FOS – Fabry Outcome Study. J Med Genet. 2009;46(8):548-552.
  3. Guffon N. Clinical presentation in female patients with Fabry disease. J Med Genet. 2003;40(4):e38.
  4. Deegan PB, Bähner F, Barba M, Hughes DA, Beck M. Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy. In: Mehta A, Beck M, SunderPlassmann G, eds. Fabry Disease: Perspectives From 5 Years of FOS. Oxford, UK: Oxford PharmaGenesis; 2006.
  5. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
  6. El-Abassi R, Singhal D, England JD. Fabry’s disease. J Neurol Sci. 2014;344(1-2):5-19.
  7. Perretta F, Antongiovanni N, Jaurretche S. Major organic involvement in women with Fabry disease in Argentina. ScientificWorldJournal. 2018;2018:6515613.
  8. Üçeyler N, Ganendiran S, Kramer D, Sommer C. Characterization of pain in Fabry disease. Clin J Pain. 2014;30(10):915-920.
  9. Morand O, Johnson J, Walter J, et al. Symptoms and quality of life in patients with Fabry disease: results from an international patient survey. Adv Ther. 2019. doi: 10.1007/s12325-019-01061-x. [Epub ahead of print]
  10. Arends M, Körver S, Hughes DA, Mehta A, Hollak CEM, Biegstraaten M. Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study. J Inherit Metab Dis. 2018;41(1):141-149.
  11. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38(11):769-775.
  12. von der Lippe C, Frich JC, Harris A, Solbrække KN. Experiences of being heterozygous for Fabry disease: a qualitative study. J Genet Couns. 2016;25(5):1085-1092.
  13. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81(2):122-138.
  14. Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl. 2005;94(447):87-92; discussion 79.