Management

Seek specialist advice.

Treatment measures include:

• avoidance of precipitating factors for pain and tiredness e.g. environmental temperature changes, physical exertion
• ensuring increased fluid intake during exercise and in warm weather
• carbamazepine may help to decrease or prevent pain attacks
• antiplatelet agents or anticoagulants to prevent TIAs/strokes
• avoid smoking
• if mild renal dysfunction - low-sodium and low-protein diet
• end-stage renal disease - renal dialysis, renal transplantation
• if gastrointestinal symptoms - low-fat diet
• prophylactic antibiotics - if mitral valve prolapse; also for dental treatments and surgery
• cardiac intervention as indicated e.g. pacemaker, bypass surgery
• dermatological treatment - laser therapy for removal of angiokeratomas
• psychological support - for patient and families
• enzyme replacement therapy is now available and generally well-tolerated
  • is evidence that this therapy may result in a decrease in pain and an improvement in cardiac and renal function (1)
  • usual treatment for Fabry disease is migalastat or enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta (2)
    • Pegunigalsidase alfa is another ERT
    • linical trial evidence shows that pegunigalsidase alfa works as well as agalsidase beta. There is no direct clinical trial evidence comparing pegunigalsidase alfa with agalsidase alfa or migalastat

Reference:

1. Dermatology in Practice (2003), 11 (6), 24-7.
2. NICE (October 2023). Pegunigalsidase alfa for treating Fabry disease