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Fabry disease: experienced uniquely by each of your patients

Fabry disease can impact many different organ systems and present in many ways in those systems.1 Even in members of the same family, you may see patients with different disease experiences.

This variability can make Fabry difficult to diagnose—and can make it difficult for your patients to relate to each other, given how different their experiences may be.

What signs and symptoms could your patients be experiencing?

  • Ophthalmologic
  • Cornea verticillata
  • Cardiovascular
  • Arrhythmia
  • Cardiomyopathies
  • Bradycardia
  • Atrial fibrillation
  • Reduced exercise tolerance
  • Gastrointestinal
  • Dyspepsia
  • Nausea, vomiting, or intermittent diarrhea and constipation
  • Abdominal pain and/or bloating
  • Neurological
  • Acute pain, particularly in the hands or feet, or “Fabry crises” 
  • Hearing loss or tinnitus
  • Intolerance to heat and cold
  • Hypohydrosis
  • Vertigo or dizziness
  • Renal
  • Proteinuria
  • Renal disease
  • Dermatologic
  • Angiokeratomas
graphic showing various symptoms of Fabry disease graphic showing various symptoms of Fabry disease
  • Acute pain, particularly in the hands or feet, or “Fabry crises”
  • Hearing loss or tinnitus
  • Intolerance to heat and cold
  • Hypohydrosis
  • Vertigo or dizziness

  • Cornea verticillata

  • Arrhythmia
  • Cardiomyopathies
  • Bradycardia
  • Atrial fibrillation
  • Reduced exercise tolerance

  • Proteinuria
  • Renal disease

  • Dyspepsia
  • Nausea, vomiting, or intermittent diarrhea and constipation
  • Abdominal pain and/or bloating

  • Angiokeratomas

graphic showing various symptoms of Fabry disease

Fabry disease can present in 2 ways2:

  • Classic Fabry disease, which may progress to severe disease
  • Nonclassic/atypical Fabry disease, which is generally less severe, presents later in life, and may be limited to one organ

However, all patients with Fabry disease have the potential to experience mild, moderate, or severe symptoms—and even patients who are experiencing mild or no symptoms are at risk for developing severe symptoms as disease progresses.1,3 This is the hidden impact of Fabry disease.

Experts discuss: how far we’ve come in Fabry disease—and hope for the future in Fabry

“This is a multisystemic disease and we just have to approach it that way, where you see everything.” –Dr. Eric Wallace, nephrologist

“When I first started, we couldn't find men with classical Fabry disease who were in their late 50s, and now I have men with classical Fabry disease, a couple of them who are in their 70s. That gives me hope.” –Dr. Rob Hopkin, geneticist

Why early intervention is so critical for your patients

Treatment may help protect against irreversible organ damage and other severe manifestations as disease progresses.3

Renal manifestations can progress to kidney failure.

Cardiovascular manifestations may eventually lead to heart failure.

Neurological manifestations may lead to stroke.

General symptoms may lead to functional decline and impaired quality of life.

Starting treatment as early as possible may help prevent disease progression—and irreversible organ damage.3

Experts discuss: monitoring Fabry disease progression—and the value of starting treatment early

What are the experts saying?

  • Fabry disease progression can be monitored through a variety of laboratory tests and patient-reported outcomes
  • Regular monitoring and open conversations with patients may help you get the information you need
  • Proactive treatment may help protect your patients from future organ damage

We’ve come a long way—and together, we can go even further. It’s time to rethink what’s possible in Fabry.

LEARN MORE ABOUT THE EXPERIENCE OF PATIENTS WITH FABRY

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. Arends M, Wanner C, Hollak CE. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28(5):1631-1641. doi:10.1681/ASN.2016090964. 3. 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.