There are 2 types of Fabry disease2:
- Classic Fabry disease, which may progress to severe disease with multi-organ involvement
- Nonclassic/atypical Fabry disease, which is generally less severe, presents later in life, and may be limited to one organ
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.1
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.
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.
What signs and symptoms could your patients be experiencing?1
- 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
- Dermatologic
- Angiokeratomas
- 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
- Psychosocial
- Depression
- Anxiety
- Panic attacks
- Attention-deficit/hyperactivity disorder (ADHD)
- Adaptive functioning disorders
- 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
- Depression
- Anxiety
- Panic attacks
- Attention-deficit/hyperactivity disorder (ADHD)
- Adaptive functioning disorders
Breaking down the physical burden of Fabry disease by organ system
Of all the symptoms your Fabry patients may experience, manifestations in the renal, cardiovascular, and neurological systems are among the most common—and dangerous.3
Male and female patients with Fabry will need renal replacement therapy at an average age of 33-47 years old5
By age 47, half of all men and women with untreated Fabry will develop terminal renal failure6
Warning signs1,7
- Proteinuria
- Microalbuminuria
- Increasing levels of serum creatinine
- Decreasing eGFR
- Renal cysts
- Pain
Monitor via1
- Renal system monitoring
- Tracking levels of proteinuria and serum creatinine
- eGFR levels
54% of males and 50% of females in the Fabry registry died of cardiovascular disease7
Median age of death in Fabry: 55.5 in males and 66 in females8
Warning signs1,9
- Electrocardiogram abnormalities
- Dyspnea
- Chest pain
- Palpitations
- Syncope
Monitor via1,7
- Cardiac MRI
- Electrocardiogram or echocardiogram
- 48-hour Holter monitoring
- Lipid panels
- Troponin level
63% of males and 43% of females reported neuropathic pain before treatment10
Fabry patients are at higher risk of cerebrovascular pain throughout their lives1
Mean age of first stroke: 40 in males and 46 in females1
Warning signs1
- Transient ischemic attacks
- Dizziness
- Vertigo
- Heat intolerance
- Hearing loss
- Pain crises
- Neuropathic pain
Monitor via1,7
- Pain evaluation and history
- Skin biopsy of nerves
- Brain MRI
Fabry can also have a significant impact on your patients’ mental health.
eGFR, estimated glomerular filtration rate; MRI, magnetic resonance imaging.
Watch 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
Starting treatment as early as possible may help prevent disease progression—and irreversible organ damage.3
Watch 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
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 FABRY PATIENT EXPERIENCE
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. 4. Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations from the National Society of Genetic Counselors. J Genet Counsel. 2013;22(5):555-564. doi:10.1007/s10897-013-9613-3. 5. 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. 6. Hoffmann B, Mayatepek E. Fabry disease—often seen, rarely diagnosed. Dtsch Arztebl Int. 2009;106(26):440-447. doi:10.3238/arztebl.2009.0440. 7. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30. 8. 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. 9. Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. 10. 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.