What is Fabry Disease?
 

Fabry disease is a rare inherited genetic disorder caused by changes (mutations) in the GLA gene. These mutations result in a deficiency or absence of the enzyme alpha-galactosidase A, which is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3). Without enough of this enzyme, Gb3 gradually accumulates within cells throughout the body, damaging tissues and organs over time. Fabry disease is an X-linked lysosomal storage disorder, meaning it affects both males and females, although symptoms and severity can vary significantly between individuals.
 

Common Symptoms:
 

Symptoms often begin in childhood or adolescence but may not be recognised until adulthood. Common signs include:
 

• Burning pain or tingling in the hands and feet (acroparesthesia)

• Reduced or absent sweating

• Heat and exercise intolerance

• Small, dark red skin lesions (angiokeratomas)

• Gastrointestinal problems, including abdominal pain and diarrhoea

• Fatigue and reduced energy levels

• Hearing loss or ringing in the ears (tinnitus)

• Corneal changes that do not usually affect vision
   

Current Treatments:
 

Although there is currently no cure for Fabry disease, several treatments can help slow disease progression and manage symptoms:

• Enzyme Replacement Therapy (ERT) to replace the missing enzyme.

• Pharmacological chaperone therapy for eligible individuals with amenable genetic variants.

• Medications to manage pain, kidney disease, heart complications, gastrointestinal symptoms, and other associated conditions.

• Regular monitoring by a multidisciplinary healthcare team.
   

How Fabry Disease May Impact Daily Life:
 

Living with Fabry disease can affect many aspects of everyday life, including:

• Chronic pain and fatigue

• School or work attendance

• Physical activity and exercise

• Mental health and emotional wellbeing

• Kidney, heart, and neurological health

• Family planning and marriage

• Frequent medical appointments and lifelong disease management
   

With earlier diagnosis, specialist care, and advances in treatment, many people with Fabry disease are able to manage their condition and maintain a good quality of life.