Patient-reported outcomes are a critical part of understanding your patient’s journey—and measuring treatment success.2
Rethinking what comprehensive management 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
Laboratory measurements, including Gb3 levels,
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
eGFR, estimated glomerular filtration rate; Gb3, globotriaosylceramide;
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 health care practitioners of the following specialties:
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:
Cardiology
Gastroenterology
Other specialties, depending on your patients’ unique needs
n/a
- 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:
Multidisciplinary care may help provide a better, more consistent care experience for your patients.1
Helping your patients navigate their Fabry treatment team
Your patients may not be accustomed to dealing with so many specialists. To help them understand the importance of a multidisciplinary approach, consider advising your patients that:
Results from each specialist will come together to form a complete picture of their health.1
It’s important for them to work with a multidisciplinary care team, even if they are not currently experiencing symptoms in a given part of their body.1,5
Working with specialists early will allow for the collection of baseline measurements, which can help the team see signs of progression early.1
Their family members with Fabry may experience the disease in a distinct way.2
Learn about 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. Visit Chiesi Global Rare Diseases to learn more.
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. 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.