What it is
Fabry disease is an inherited (X-linked) lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. The enzyme shortfall lets fatty material build up in cells throughout the body, progressively damaging the skin, kidneys, heart, nerves, and brain.
Signs and symptoms
Hypertrophic cardiomyopathy
Fabry disease can thicken the heart muscle (hypertrophic cardiomyopathy), which is a major cause of illness and death in the condition.
Left ventricular hypertrophy
Thickening of the heart's main pumping chamber (left ventricular hypertrophy) is a common cardiac feature of Fabry disease.
Stroke
Fabry disease raises the risk of stroke, including in younger adults, because of damage to blood vessels.
Cornea verticillata
Cornea verticillata is a whorl-like clouding pattern in the cornea of the eye and is a characteristic sign of Fabry disease.
Proteinuria
Protein in the urine (proteinuria) is one of the signs of the kidney involvement seen in Fabry disease.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
Agalsidase
Enzyme replacement therapy with agalsidase (alfa or beta) supplies the missing alpha-galactosidase A enzyme by intravenous infusion, slowing disease progression.
Used to help with: Fabry disease.
“Until a few years ago, treatment options for Fabry disease were limited to enzyme replacement therapy with agalsidase alfa or beta administered by intravenous infusion every 2 weeks.”
Migalastat
Migalastat is an oral medicine (a pharmacological chaperone) that stabilises and boosts the activity of the patient's own alpha-galactosidase A enzyme, for people whose mutations are amenable to it.
Used to help with: Fabry disease.
“Migalastat (Galafold) is an oral pharmacological chaperone that increases the enzyme activity of amenable mutations.”
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How to read the evidence labels
Where this comes from
This guide is built from 3 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.