Fabry's Disease
Overview
The Fabry Program at UCLA Health provides comprehensive, lifelong care to patients and families affected by Fabry disease, a rare, inherited lysosomal storage disorder. We pair expert multidisciplinary care with education and support for patients, families, and healthcare professionals. We also conduct research aimed at transforming how Fabry disease is diagnosed and treated.
A Team Built Around the Whole Patient
Fabry disease can affect nearly every organ system, often in different ways across a single family. Our care therefore brings together specialists who work as one coordinated team:
• Organ-specific care: nephrology, cardiology, neurology, gastroenterology, hepatology, ophthalmology, dermatology, audiology, and urology
• Diagnosis and genetics: medical genetics, genetic counseling, and radiology
• Advanced kidney care: dialysis and kidney transplantation
• Across the lifespan: pediatrics and obstetrics and gynecology
• Comfort and well-being: pain medicine, psychiatry, social work, and patient advocacy
• Specialized support: infectious disease
Patients benefit from coordinated visits, shared treatment plans, and clear communication among every member of their care team.
What Patients and Families Can Expect
• Accurate diagnosis: enzyme and genetic testing, with expert interpretation of variants
• Family screening: genetic counseling and cascade testing so at-risk relatives can be identified early, often before symptoms begin
• Individualized treatment: access to the full range of approved therapies, including enzyme replacement therapy and oral chaperone therapy, plus management of symptoms and organ complications
• Ongoing monitoring: regular assessment of kidney, heart, and nervous system health to detect changes early and adjust treatment
• Support beyond the clinic: social work, mental health care, and patient advocacy to help families manage the practical and emotional sides of living with a rare disease
Advancing Research
The program is committed to research that spans basic science, applied clinical science, outcomes, and evidence-based studies. Through participation in clinical trials, eligible patients may gain access to promising new therapies before they become widely available. Our goal is to develop better treatments and, ultimately, a cure for Fabry disease.
Educating the Next Generation
Because Fabry disease is rare and often diagnosed late, education is central to our mission. We provide resources and programs that help patients and families understand the condition, and we train physicians, trainees, and allied health professionals to recognize Fabry disease earlier and treat it more effectively.