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Rethinking what successful treatment means for patients with Fabry

Laboratory measurements and multisystemic monitoring are invaluable tools when tracking Fabry progression and measuring treatment success.1 However, some symptoms may slip past traditional monitoring tools and measurements1,2—and so we need to be able to measure treatment success in multiple tangible ways.

Getting a more complete look at Fabry progression1-3

Graphic showing laboratory measurements, multisystemic monitoring, and patient-reported outcome assessments. Graphic showing laboratory measurements, multisystemic monitoring, and patient-reported outcome assessments. Graphic showing laboratory measurements, multisystemic monitoring, and patient-reported outcome assessments.

Laboratory measurements, including Gb3 levels, lyso-Gb3 levels, BLISS scores, and eGFR.2,4 Other measures may be indicated depending on patient needs2

Multisystemic monitoring, including all systems that may be impacted by Fabry1,2

These measures alone
may not tell the whole story.

Get a more complete understanding with patient-reported outcome assessments:

  • SF-36 health survey: questions about patients' overall health and its impact on their daily lives3
  • EQ-5D measurement model: questions about patients' mobility, self-care, usual activities, pain, and anxiety/depression3

Patient-reported outcomes are a critical part of understanding your patient’s journey—and measuring treatment success.2

BLISS, Barisoni Lipid Inclusion Scoring System; eGFR, estimated glomerular filtration rate; Gb3, globotriaosylceramide; lyso-Gb3, globotriaosylsphingosine; SF-36, 36-Item Short Form Health Survey.

Taking on Fabry together: a multidisciplinary approach to treatment

Because Fabry can impact so many different organ systems, its effective management requires a multidisciplinary team of specialists monitoring each system.1

If you treat patients with Fabry, consider consulting with physicians of the following specialties:

  • Cardiology
  • Nephrology
  • Neurology
  • Gastroenterology
  • Genetics
  • Primary care
  • Other specialties, depending on your patients’ unique needs

If you or your patients don’t have access to all of the specialists noted above, directing your patients to the following resources may help them learn more about their condition:

  • AHA: American Heart Association
  • AAKP: American Association of Kidney Patients
  • NIH: National Institute of Neurological Disorders and Stroke
  • AGA: GI Patient Center
  • ACMG: American College of Genetics
  • NORD: National Organization for Rare Diseases FSIG: Fabry Support & Information Group

Cardiology

Nephrology

Neurology

Gastroenterology

Genetics

Primary care

Other specialties, depending on your patients’ unique needs

If you or your patients don’t have access to all of the specialists noted above, directing your patients to the following resources may help them learn more about their condition:

  • AHA: American Heart Association
  • AAKP: American Association of Kidney Patients
  • NIH: National Institute of Neurological Disorders and Stroke
  • AGA: GI Patient Center
  • ACMG: American College of Medical Genetics
  • NORD: National Organization for Rare Diseases
  • FSIG: Fabry Support & Information Group

Multidisciplinary care may help provide a better, more consistent care experience for your patients.1

Chiesi Global Rare Diseases: our commitment, your empowerment

At Chiesi Global Rare Diseases, we are fully committed to rethinking Fabry. And now, we look forward to helping forge a change for patients with Fabry—together.

Watch Chiesi Global Rare Diseases team members share their commitment to Fabry disease and other rare diseases.

Together, we can take action to make a change. It’s time to rethink Fabry.

REVIEW CONVERSATION STARTERS AND RESOURCES FOR YOU AND YOUR PATIENTS WITH FABRY

References: 1. Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8(9):539-548. doi:10.1097/01.gim.0000237866.70357.c6. 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. Arends M, Hollak CEM, Biegstraaten M. Quality of life in patients with Fabry disease: a systematic review of the literature.  Orphanet J Rare Dis. 2015;10(77):1-10. doi:10.1186/s13023-015-0296-8. 4. Barisoni L, Jennette JC, Colvin R, et al. Novel quantitative method to evaluate globotriaosylceramide inclusions in renal peritubular capillaries by virtual microscopy in patients with Fabry disease. Arch Pathol Lab Med. 2012;136(7):816-824. doi:10.5858/arpa.2011-0350-OA. 5. 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. doi:10.7326/0003-4819-138-4-200302180-00014.