Understanding Fabry disease and its signs and symptoms

Fabry disease may be described in 2 ways:¹  

1. Severe, classical phenotype, most often seen in men without residual enzyme activity¹ 

2. Nonclassical FD, also referred to as late-onset or atypical FD, characterized by a more variable disease course, in which patients are generally less severely affected and disease manifestations may be limited to a single organ¹ 

Early symptoms of Fabry disease typically begin in childhood – often appearing earlier in males than females.⁴ With age, progressive damage to vital organ systems develops in both genders, leading to organ failure.⁴  

It is important to remain aware that clinical vigilance and regular monitoring are essential, as an absence of symptoms at baseline or at follow-up assessment does not preclude subsequent development of organ complications.² 

The need for prompt and accurate diagnosis of this devastating, progressive disease is paramount so that patients can be identified and treated before irreversible organ damage occurs.³ End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated patients.⁴

Long-term management of adult patients with Fabry disease should involve timely treatment and regular assessment of disease progression in all patients.²

Fabry disease can be monitored through a variety of laboratory tests and patient-reported outcomes.

• While taking the medical history, inquire about manifestations suggestive of neurologic or cardiac symptoms.
• Psychological follow-up can provide supportive aid for expression of emotions and feelings involved in the acceptance process and adherence to treatment.

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

References: 

1. Arends M, et al. J Am Soc Nephrol. 2017;28(5):1631-1641.
2. Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427.
3. Desnick RJ, et al. Ann Intern Med. 2003;138(4):338-346.
4. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
5. Arends M, et al. J Inherit Metab Dis. 2018;41(1):141-149.
6. Martins, AM, et al. The Journal of pediatrics. 2009;155(4): S19-S31.