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Table 4 Adjunctive support for the management of Fabry disease [39, 180]

From: Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective

Organ/system involvement

Adjunctive/symptomatic therapy and preventative measures

Renal

Proteinuria and reno-protection

ACE inhibitor or ARB

Dietary salt restriction

Statin therapy

Vitamin D replacement therapy if needed

Renal failure

Dialysis or kidney transplantation (donor screened negative for FD)

Cardiac

Hypertension

ACEI or ARB (beta blockers should be used with caution and amiodarone avoided in patients receiving ERTa)

Symptomatic bradycardia/chronotropic incompetence or significant AV conduction impairment

Permanent cardiac pacing

Atrial fibrillation

Lifetime anticoagulation with maintenance of sinus rhythm

Malignant arrhythmias

Implantable cardioverter-defibrillator

Neurologic

Stroke prophylaxis

Antithrombotic agents (aspirin or clopidogrel) as secondary prevention; no data available regarding primary prevention

Anticoagulants (warfarin or the new anticoagulant drugs in absence of kidney failure), when needed, e.g., patients with atrial fibrillation

Neuropathic pain management

First-line agents include anticonvulsants (e.g., carbamazepine, gabapentin, pregabalin); other drugs can be considered according to current international recommendations for neuropathic pain

Pain crises

Opioid agonists (care needed to avoid worsening GI disturbances)

Avoiding pain triggers

Lifestyle modifications (e.g., avoid temperature extremes, maintain proper hydration, use air conditioning, cooling vests, facial mist/spray)

Psychiatric

Depression, anxiety

Psychiatric referral, pain center referral, serotonin reuptake inhibitors

Gastrointestinal

Delayed gastric emptying

Metoclopramide

Dyspepsia

H-2 blockers

Dysmotility and diarrhea

Dietary changes (increased fiber intake, more frequent and smaller meals) and pharmacotherapy

Pulmonary

Airway obstruction

Bronchodilators

Ophthalmological

Difficulty in driving at night

Polarized glasses

Artificial tears ointment

ENT

Hearing loss

Hearing aids, cochlear implants

Vertigo-related nausea

Trimethobenzamide, prochlorperazine

Dermatological

Angiokeratomas

Laser/cosmetic treatment (not proven effective)

Lymphedema

Compression stockings

  1. ACE: Angiotensin converting enzyme; ARB: Angiotensin receptor blocker; AV: Atrioventricular; ENT: Ear-nose-throat; ERT: Enzyme replacement therapy; FD: Fabry disease