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Fabry Disease
Enzyme deficiency causing kidney and vascular problems.
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About this condition
Fabry Disease is a kidney-related medical condition classified under Genetic disorders. Enzyme deficiency causing kidney and vascular problems. This condition may present with various symptoms depending on severity and individual patient factors. Diagnosis typically involves comprehensive medical evaluation including patient history, physical examination, laboratory tests, and imaging studies as appropriate. Treatment approaches are individualized based on disease severity, patient comorbidities, and response to therapy. Regular monitoring and follow-up care are essential for optimal management and prevention of complications. Patients are encouraged to work closely with their healthcare team to develop a comprehensive treatment plan.
Briefly about this condition
Symptoms
Fatigue, swollen ankles, foamy urine, decreased urine output, persistent itching.
Causes
Diabetes, high blood pressure, glomerulonephritis, polycystic kidney disease, prolonged use of certain medications.
Risk factors
Family history, age 60+, cardiovascular disease, smoking, obesity.
Diagnosis
Blood test (eGFR, creatinine), urine analysis (ACR), kidney imaging, biopsy when indicated.
Treatment options
Fabry Disease treatment
Fabry Disease doctors
Specialists for this condition
2 specialists linked to this condition
NM
Clinics treating Fabry Disease
Mayo Clinic Kidney & Pancreas Transplant Center
✓ AccreditedAcademic Medical Center
Advanced Transplantation
Good questions
Frequently asked questions
Is Fabry Disease preventable?
Many kidney conditions can be slowed or prevented with blood-pressure control, blood-sugar management, hydration and avoiding nephrotoxic medications. Speak to a nephrologist for a personalised plan.
When should I see a specialist?
See a nephrologist if your eGFR is below 60, you have persistent proteinuria, recurrent kidney stones or unexplained kidney function decline.
Can this condition be reversed?
Acute presentations are often reversible with prompt treatment. Chronic forms can usually be stabilised or slowed with appropriate medical therapy and lifestyle changes.