Taking action

A range of assessments and schedules are recommended to monitor different organ systems in adult patients with Fabry disease.1 However, there has been no systematic way to evaluate the frequency and impact of signs and symptoms, or to identify which are the most debilitating and most important in terms of quality of life (QoL).2

Measuring successImproving multidisciplinary careIntroducing Chiese Global Rare Diseases

Limitations in how we currently measure success for patients with Fabry disease

A range of assessments and schedules are recommended to monitor different organ systems in adult patients with Fabry disease.1 However, there has been no systematic way to evaluate the frequency and impact of signs and symptoms, or to identify which are the most debilitating and most important in terms of quality of life (QoL).2

Current recommendations include:

  • Laboratory measurements, including Gb3 levels, lyso-Gb3 levels, albuminuria test and eGFR.1 Additional monitoring dictated by each patients individual clinical course3
  • Multisystemic monitoring – all relevant systems must be assessed, treated and monitored individually4

Can patient-reported outcomes offer a different perspective?

Patient reported outcomes may be measured with:

  • SF-36 questionnaire: assesses 8 domains of QoL – Physical Functioning, Role Physical, Bodily Pain, General Health, Vitality/Energy, Social Functioning, Role Emotional, and Mental5
  • EQ-5D questionnaire: assesses 5 domains of QoL – mobility, self-care, usual activities, pain, and anxiety/depression5

Better understanding of QoL in different disease states and improved understanding of the influence of specific symptoms and complications on QoL may facilitate targeted treatment, and improve the well-being of Fabry patients.6

Thoroughly understanding patient experiences is key in measuring the burden of Fabry.2

eGFR, estimated glomerular filtration rate; Gb3, globotriaosylceramide; lyso-Gb3, globotriaosylsphingosine; SF-36, 36-Item Short Form Health Survey.

Patient experience

Fabry disease has a profound emotional and physical impact on affected individuals and their families.1 Disease manifestations in patients with the same gene mutation, even males from the same family, may vary, making counselling difficult.1

Improving multidisciplinary care for patients

Clinical evaluations should involve a multidisciplinary team of subspecialists, which should be coordinated by a physician experienced in the care of patients with Fabry disease.3

A care team may include physicians of the following specialties:1

Cardiology

Nephrology

Neurology

Psychology

Genetics

Primary care

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:

 

 

ESC – European Society of Cardiology

EKPF – European Kidney Patients Federation

EFNA – European Federation of Neurological Associations

EFPA – European Foundation for Psychologists and Analysts

EGAN – Patients Network for Medical Research and Health

EURORDIS – The Voice of Rare Disease Patients in Europe

Helping your patients navigate their care team

Supportive care is important.7 To help your patients understand the importance of a multidisciplinary approach, consider advising them that:

 

  • Therapeutic management of Fabry disease requires a multidisciplinary approach by medical specialists experienced in treating this rare condition.4
  • Comprehensive monitoring regardless of age, sex, or treatment status, should be conducted at regular intervals.4
  • Annual evaluations ensure that they receive optimal interventions and support.3

Results from each specialist will come together to form a complete picture of their health.1

Working with specialists early will allow for the collection of baseline measurements, which can help the team see signs of progression early.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

Their family members with Fabry may experience the disease in a distinct way.2

Resources

  • Recommended assessments and schedule for monitoring organ involvement in adult patients with Fabry disease
  • Recent publications

Introducing Chiesi Global Rare Diseases

At Chiesi Global Rare Diseases, we’re working to build a brighter future for patients.

We want to revolutionize the lives of patients living with rare diseases by providing an integrated set of definitive solutions.8 The patients are the beginning and the end of our journey. For them, we work in close partnership with patients, caregivers, patient associations, healthcare practitioners, and regulatory and pricing authorities.8

We strive to build a brighter future for the patients we serve; we relentlessly pursue sustainable growth with passion, courage, teamwork, and innovation.8 We are fully committed to rethinking what is possible in Fabry disease. Together, we can take action to make a change.

About Fabry disease

Fabry disease is a lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A, leading to accumulation of glycosphingolipids, particularly globotriaosylceramide, in various cell types throughout the body.

References

  1. Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427.
  2. Hamed A, et al. Orphanet J Rare Dis. 2021;16:285.
  3. Desnick RJ, et al. Ann Intern Med. 2003;138(4):338-346.
  4. Eng CM, et al. Genet Med. 2006;8(9):539-548.
  5. Arends M, et al. Orphanet J Rare Dis. 2015;10(77):1-10.
  6. Arends M, et al. J Inherit Metab Dis. 2018;41(1):141-149.
  7. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
  8. Chiesi Global Rare Diseases Institutional Presentation, June 2021.