Symptomatic treatment

Symptomatic treatment of Fabry disease requires a multidisciplinary approach as a result of the varied nature of symptoms; multiple, concomitant treatments are therefore usually necessary.1 Organ function, symptom control and psychosocial aspects of the condition all require consideration.1 The table below outlines the most common symptomatic and/or concomitant treatments for patients.

Symptomatic treatments used in Fabry disease

SIGN OR SYMPTOMTREATMENT(S) USED
Cardiovascular diseaseChest pain: Anti-angina drugs (beta-blockers, calcium antagonists, nitrates) Heart failure: Diuretics, angiotensinconverting enzyme (ACE) inhibitors, digoxin Abnormal heart rhythms: Anti-arrhythmic drugs, anti-coagulating drugs, implantable cardioverter or defibrillator Bradycardia (slow heart beat): Pacemaker
Renal diseaseProteinuria: ACE inhibitors, angiotensin receptor blockers (ARBs) Renal failure: Dialysis, transplantation
PainChronic pain: Anticonvulsants (e.g. carbamazepine, phenytoin, gabapentin) Painful crises: Non-steroidal anti-inflammatory drugs, opiates
Gastrointestinal symptomsNausea and vomiting: Anti-emetics (e.g. metoclopramide) Diet and nutrition: Low-fat diet, oral nutritional formula, motility agents, pancreatic enzyme supplements
Skin lesions (angiokeratoma)Removal with argon laser therapy
Sweating abnormalities (hypohidrosis oranhidrosis)Washing in cool water, use of a fan, cold drinks, limitation of physical activity
Neurovascular diseaseAspirin, clopidogrel (oral anti-platelet drug that reduces the risk of blood clotting; also given after a stroke or a heart attack)
Hypertension (high blood pressure)Rigorous control (e.g. with ACE inhibitors; beta-blockers should be avoided if bradycardia is present)
Hyperlipidaemia (high levels of total cholesterol, low-density lipoprotein cholesterol, triglycerides, or both total cholesterol and triglyceride)Statins (cholesterol-lowering drugs)
Table reproduced with kind permission from Dr Derralyn Hughes1

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