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Find out more about cardiac related signs and symptoms.
Find out more about renal related signs and symptoms.
Find out more about neurological related signs and symptoms.
Dyspnoea, chest pain, fainting and palpitations View more on cardiac symptoms
Renal abnormalities are very common and are referred to as Fabry nephropathy View more on renal symptoms
Altered blood flow to the brain, increased risk of stroke and exercise intolerance View more on neurological symptoms
Acroparesthesia, hypohidrosis and heat intolerance
Diarrhoea, pain, bloating and/or constipation
Hearing loss, tinnitus and vertigo
Corneal, retinal and lens problems
The progressive storage of Gb3 molecules leads to cellular dysfunction, triggering tissue inflammation and/or fibrosis.1,3,4 This is part of a cascade of events, including cell death, impaired energy metabolism, small vessel injury and tissue ischaemia.1 An important pathological consequence of these cellular changes is the development of irreversible cardiac and renal tissue fibrosis.1,5–7 The kidneys, heart and cerebrovascular system are considered to be the main organs affected;8,9 however, Fabry disease may affect additional organ systems.2
Fabry disease symptoms are almost always observed in males with the Fabry disease gene, although they vary in severity between individuals; in females, the expression of signs and symptoms is more variable than in males and the disease can be asymptomatic.1,2 Fabry disease typically presents later in females than in males and progresses at a slower rate.1,2,10 The reason for the variability in the expression of disease symptoms in females is not fully understood, but may be explained in part by the random inactivation of the X chromosome (lyonization) or additional mechanisms such as cross correction of the metabolic defect.1
Fabry disease significantly reduces life expectancy in both males and females.1,7,10‒13
To learn more about the impact of Fabry disease on the heart and kidneys, watch this video: