Neuropsychology and ophthalmology
Management of Fabry disease
As a rare disease, the understanding and management of Fabry disease continues to evolve as cumulative data becomes available. Amicus’ own medical information, as well as country regional guidelines, are based on current accepted literature. Guidance and text on disease epidemiology, assessments and treatment has been primarily taken from the few key academic references that form the current understanding and expert consensus on Fabry disease.
Management of Fabry disease
Overall, management of Fabry disease requires a skilled multidisciplinary team and careful, individualised decision making with close consultation among the patient, physicians, family members and other caregivers.1,2
Even if no apparent symptoms are present at baseline or at follow-up appointments, organ complications can still occur. Therefore, routine assessments and monitoring are key in the management of Fabry disease. Additionally, baseline values should always be obtained.3
What follows is a summary of the management options for manifestations of Fabry disease. The clinical management of patients with Fabry disease frequently requires a multidisciplinary approach, including Fabry specialists. For further guidance please refer to your approved regional guidelines.
Click on the headings below for an overview and summary of different management strategies employed in Fabry disease.
- Hypertension: Medication and lifestyle changes
- Dyslipidaemia: Medication
- Atrial fibrillation: Medication and rarely cardiac ablation
- Endothelium dysfunction with vasospasm and thrombotic events: Medication
- Symptomatic bradycardia or tachycardia or higher degree of AV block: Permanent cardiac pacing
- Left ventricular outflow tract obstruction: Medication and interventional techniques
- Coronary artery disease: Medication and interventional techniques
- Heart failure: Medication and cardiac transplantation
- Chronic pain and painful crisis: Holistic pharmacological and non-pharmacological interventions
- Stroke: Medication and lifestyle changes
- Proteinuria: Medication
- End stage renal disease: Dialysis or renal transplantation
- Angiokeratoma: Laser methods and liquid nitrogen treatment can be considered
- Hyper- or hypohidrosis: Limit exposure to extreme temperature changes, topical application of antiperspirant agents and/or addition of lachrymal fluid and saliva
- Airway obstruction and interstitial lung damage: No lung-specific intervention has shown clear evidence of benefit
- Activities of daily living: Physiotherapy and occupational therapy; manage pain
- Mood disturbances: Specialist referral and counselling intervention; manage pain
- Depression and anxiety: Specialist referral and medication; manage pain
- Irregular bowel habit: Medication and dietary changes
- Sudden hearing loss: Medication
- Advanced deafness: Hearing aids/cochlear implants
- Vertigo with nausea: Medication
- Osteoporosis: Medication
Currently, there are only two classes of disease modifying drug which are approved for treatment of Fabry disease:
> Enzyme replacement therapy
> Chaperone therapy
Finally, genetic counselling also plays an important role in informing patients as well as supporting patient-relevant aspects of disease management, including psychosocial factors, health-related quality of life and wider questions regarding family planning.9
- Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8:539–548.
- Wang RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011;13:457–478.
- Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123:416–427.
- Mehta A, West ML, Pintos-Morell G, et al. Therapeutic goals in the treatment of Fabry disease. Genet Med. 2010;12:713–720.
- Nagueh SF. Anderson-Fabry disease and other lysosomal storage disorders. Circulation. 2014;130:1081–1090.
- Kiedrowicz RM, Cooklin M, Carr-White G, et al. Atrial tachycardia in a patient with Fabry’s disease. HeartRhythm Case Rep. 2016;2:124–127.
- Burlina AP, Sims KB, Politei JM, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurology. 2011;11:61.
- Rajan JN, Ireland K, Johnson R, et al. Review of mechanisms, pharmacological management, psychosocial implications, and holistic treatment of pain in Fabry disease. J Clin Med. 2021;10:4168.
- Lidove O, Jaussaud R & Aractingi S. Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 24.
- Svensson CK, Feldt-Rasmussen U & Backer V. Fabry disease, respiratory symptoms, and airway limitation – a systematic review. Eur Clin Respir J. 2015;2:10.
- Sacre K, Lidove O, Leprieur BG, et al. Bone and joint involvement in Fabry disease. Scand J Rheumatol. 2010;39:171–174.
- Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Counsel. 2013;22:555–564.
When should you suspect Fabry disease