PracticeUpdate Conference Series ISN WCN 2019

Fabry disease is a genetic condition that may account for 0.3% to 0.7% of unexplained end-stage renal disease cases 1,2

SUSPECT

The European Renal Association-European Dialysis and Transplant association recommends screening for Fabry disease in male chronic kidney disease (CKD) patients below 50 years of age in whom a reliable renal diagnosis is absent and in females with unexplained CKD and other unexplained symptoms. High-risk groups such as those with hypertension or diabetes should also be screened. 3

OTHER MANIFESTATIONS OF FABRY DISEASE – A MULTI-SYSTEMIC DISORDER 4–7

CNS/ Nervous System

Skin

Gastrointestinal

- Nausea, vomiting - Diarrhoea - Postprandial pain and bloating - Early satiety - Difficulty gaining weight

- Thrombosis - Stroke

- Angiokeratomas - Hypohidrosis/anhidrosis

- Transient ischaemic attacks - Peripheral neuropathic pain, pain crises

Heart

Kidneys

Ear-Nose-Throat

- Hearing loss, sudden deafness - Tinnitus - Vertigo

- Impaired concentration ability - Increased urinary GL-3 excretion - Microalbuminuria, proteinuria - GFR reduction, end-stage renal disease

- Left ventricular hypertrophy - ECG abnormalities - Arrhythmias - Valvular disease

- Vascular insufficiency - Myocardial infarction

Skeletal

Eye

Lungs

- Distinctive whorl-like pattern, visible only to slit-lamp microscopy - Conjunctival involvement

- Osteopenia - Osteoporosis

- Coughing - Dyspnoea, wheezing - Exercise intolerance

References: 1. van der Tol L, et al. J Med Genet 2014; 51: 1-9. 2. Tanaka M, et al. Clin Nephrol 2005; 64: 281-87. 3. Terryn W, et al. Nephrol Dial Transplant 2013; 28: 1-13. 4. Wang RY, et al. Gen Med 2011;13(5):457–84. 5. Germain DP, et al. Genet Med 2013;15:958–65. 6. Yousef Z, et al. Eur Heart J 2013;34:802–28. 7. Zarate YA, Hopkin RJ. Lancet 2008;372:1427–35. Please review the product information before prescribing found on the back cover. For PBS information refer to Primary advertisement.