Symptoms
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Cardiac
Find out more about cardiac related signs and symptoms.
Renal
Find out more about renal related signs and symptoms.
Neurological
Find out more about neurological related signs and symptoms.
In Fabry disease, the accumulation of glycosphingolipids (predominantly Gb3) results in a variety of clinical manifestations, which typically worsen over time1–3 and can include:
Heart
- Left ventricular hypertrophy
- Ischaemia
- Enlarged left atrium
- Heart valve abnormalities
- Conduction disturbances and arrhythmias
Kidneys
- Proteinuria
- Progressive loss of renal function, leading to kidney failure
- Renal cysts
Brain
- Stroke
- Dizziness
Gastrointestinal
- Abdominal cramping
- Frequent bowel movements soon after eating
- Diarrhoea
- Nausea
Skin
- Angiokeratoma
Peripheral nervous system
- Acroparesthesia
- Hypohidrosis
- Intolerance to heat or cold
General
- Neuropsychiatric and psychosocial issues
- Fatigue (which can be extreme)
Signs & symptoms
Heart
Dyspnoea, chest pain, fainting and palpitations View more on cardiac symptoms
Kidneys
Renal abnormalities are very common and are referred to as Fabry nephropathy View more on renal symptoms
Brain
Altered blood flow to the brain, increased risk of stroke and exercise intolerance View more on neurological symptoms
Peripheral Nervous System
Acroparesthesia, hypohidrosis and heat intolerance
Skin
Angiokeratoma
Gastrointestinal tract
Diarrhoea, pain, bloating and/or constipation
Ears
Hearing loss, tinnitus and vertigo
Eyes
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
Natural course of Fabry disease: Clinical sequelae in men
- Multiple organ dysfunction, with number of organs involved rising with age1
- Renal and cardiac signs and symptoms found in >50% of male patients >40 years of age1
- Vascular signs and symptoms not generally reported in the first decade1
- Neurological symptoms are commonly reported in male patients (up to 84%)1-3
- Pain has an earlier onset in males than other signs and symptoms2
Natural course of Fabry disease: Clinical sequelae in women
- Female patients can exhibit significant signs and symptoms of Fabry disease1–3
- Multiple organ dysfunction, with number of organs involved rising with age2
- Most signs and symptoms develop by >30 years of age3
- Pain is one of the most prevalent symptoms of Fabry disease and is reported to occur in ~65% of female patients4
To learn more about the impact of Fabry disease on the heart and kidneys, watch this video:
Recent posts from Rare2Aware on Fabry Disease
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INTSP/C-ANPROM/FAB/16/0020(1) December 2016