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S1: I’d like to share some information about Fabry disease with you
S2: I’d like to share our new Fabry resources with you
S3: I have new information on the impact of Fabry for you
S4: Let’s schedule some time to discuss Fabry disease
S5: Thanks for meeting with me! I have new resources for you
S6: I’d like to follow up on our meeting
Pre-header:
It’s time to rethink Fabry together

Let's rethink Fabry together
[Salutation-choose 1: falseHitrueHellotrueDeartrueGreetingstrueGood morningtrueGood afternoontrueGood evening]
[Name Format-choose 1: falseFirst Name Last NametrueTitle Last NametrueFirst Name],
[Introduction-choose 1: falseThank you for meeting with me to discuss the path forward in Fabry diseasetrueI’m looking forward to our meeting so that we can discuss new possibilities in Fabry diseasetrueI’d like to schedule time with you to discuss Fabry diseasetrueI’m sorry we weren’t able to connect about Fabry disease, but I’d like to share some information with you today].
Lately, it has become clear that it’s time to reenvision how we approach Fabry—there is new information about the impact of the disease on patients and new treatment options are on the horizon.

The female Fabry experience: a distinct journey, commonly overlooked in the past

Not too long ago, female Fabry disease patients were thought of as carriers who could not experience symptoms of Fabry. Now, however, we know that isn’t the case—female Fabry patients can experience symptoms just as severe as those experienced by male patients.1
References: 1. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30. 2. Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet Med. 2006;8(6):346-353. doi:10.1097/01.gim.0000223545.63012.5a.

The impact of Fabry on your patients’ mental health

In addition to physical symptoms, Fabry disease can have a significant impact on your patients’ mental, emotional, and social well-being.1,2

The National Society of Genetic Counselors has released guidelines on assessing and managing common psychological disorders for Fabry patients2:
References: 1. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. doi:10.1016/j.ymgme.2018.02.014. 2. Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Counsel. 2013;22(5):555-564. doi:10.1007/s10897-013-9613-3.
Fabry disease can have a significant impact on the cardiovascular system. Cardiovascular disease is the most common cause of death in Fabry patients, impacting1:
How to identify cardiac involvement2,3:
  • Cardiac MRI
  • Electrocardiogram/echocardiogram
  • 48-hour Holter monitoring
  • Lipid panels
  • Troponin levels
References: 1. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med. 2009;11(11):790-796. doi:10.1097/GIM.0b013e3181bb05bb. 2. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. doi:10.1016/j.ymgme.2018.02.014. 3. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30.
Fabry disease can have a severe effect on the renal system, as decreasing eGFR can progress to kidney failure by a mean age of 40.1-4 Renal involvement is common, impacting5:
How to identify renal involvement3:
  • Renal system monitoring
  • Tracking proteinuria
  • Tracking serum creatinine
  • eGFR slope
eGFR, estimated glomerular filtration rate.

References: 1. Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MGW, Hollak CEM. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis. 2013;8:47. doi:10.1186/1750-1172-8-47. 2. Mehta A, Hughes DA. Fabry Disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. University of Washington, Seattle; Updated January 27, 2022. Accessed February 17, 2022. https://www.ncbi.nlm.nih.gov/books/NBK1292/. 3. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. doi:10.1016/j.ymgme.2018.02.014. 4. Weidemann F, Niemann M, Störk S, et al. Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med. 2013;274(4):331-341. doi:10.1111/joim.12077. 5. Hoffmann B, Mayatepek E. Fabry disease—often seen, rarely diagnosed. Dtsch Arztebl Int. 2009;106(26):440-447. doi:10.3238/arztebl.2009.0440.
Neurological symptoms, which can have a significant impact on your patients’ quality of life, are common in Fabry disease.1 Neuropathic pain is one of the most common, impacting2:
How to identify neurological involvement1:
  • Pain evaluation and history
  • Skin biopsy of nerves
  • Brain MRI
References: 1. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. doi:10.1016/j.ymgme.2018.02.014. 2. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93(2):112-128. doi:10.1016/j.ymgme.2007.09.013.

Fabry resources are available

Select an asset to download today:
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In the meantime, if you’d like more information about the new potential for challenging the status quo in Fabry, please visit hcp.rethinkfabry.com.
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