What's Fabry disease?
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.
| Also indexed as | ORPHA:324, MONDO:0010526 |
|---|---|
| Features mapped | 13 |
| Treatments mapped | 2 |
| Published sources | 11 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Acroparesthesia
Burning or tingling pain in the hands and feet, often in crises, is one of the earliest symptoms of Fabry disease and can begin in childhood.
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.
Angiokeratoma
Angiokeratomas, clusters of small dark-red raised spots on the skin, are a characteristic feature of Fabry disease.
Stroke
Fabry disease raises the risk of stroke, including in younger adults, because of damage to blood vessels.
Hypohidrosis
Reduced sweating (hypohidrosis) is one of the early, characteristic features of Fabry disease.
Cornea verticillata
Cornea verticillata is a whorl-like clouding pattern in the cornea of the eye and is a characteristic sign of Fabry disease.
Chronic pain
Pain crises affecting the hands and feet are among the classic symptoms of Fabry disease.
Elevated circulating globotriaosylceramide concentration
Because the enzyme is missing, a fatty substance called globotriaosylceramide (Gb3) accumulates in blood and tissues, including the heart and kidneys.
Decreased alpha-galactosidase A activity
Fabry disease results from low activity of the alpha-galactosidase A enzyme, so fatty molecules the enzyme normally clears build up in cells throughout the body.
Abnormal glycosphingolipid metabolism
In Fabry disease, glycosphingolipids build up in body fluids and tissues. This accumulation can lead to progressive organ damage over time.
Proteinuria
Protein in the urine (proteinuria) is one of the signs of the kidney involvement seen in Fabry disease.
Renal insufficiency
Over time, fatty deposits damage the kidneys, leading to protein in the urine and declining kidney function, which is a major driver of the need for treatment.
How it is diagnosed
Fabry disease
Diagnosed using: Alpha-galactosidase A enzyme activity assay.
“…dosage of alpha-galactosidase A enzyme activity into…”
Fabry disease
Diagnosed using: alpha-galactosidase A enzyme activity.
“Diagnosis is easy in males, with dosage of alpha-galactosidase A enzyme activity into leukocytes, but more difficult in females who can express normal residual activity.”
Fabry disease
Diagnosed using: GLA molecular genetic testing.
“In females, because of the potential high residual enzymatic activity, the diagnostic gold standard requires molecular genetic analyses.”
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
Agalsidase is an enzyme replacement therapy for Fabry disease, given as agalsidase alfa or agalsidase beta by intravenous infusion every two weeks. It can help stabilize symptoms or reduce disease burden.
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 stabilizes and boosts a person's own alpha-galactosidase A enzyme. It works only for people whose specific 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.”
What changes how it shows up
Carrying the genetic change is not the whole story. The factors below are described in the research mapped here as changing whether, or how strongly, the condition appears. They modulate how the genotype is expressed; they do not, on their own, cause or cure it.
GLA X-linked inheritance
Fabry disease is X-linked and caused by mutations in the GLA gene, which lead to a deficiency of alpha-galactosidase A.
Described as modulating: Fabry disease.
“Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to a deficiency in α-galactosidase A.”
classic versus later-onset phenotype
Fabry disease can be classified as classic or later-onset. In the classic form, alpha-galactosidase A activity is absent or severely reduced and symptoms begin early and affect many organs; in the later-onset form there is residual enzyme activity and the features are mainly confined to the heart.
Described as modulating: Fabry disease.
“In classic Fabry disease, α-galactosidase A (α-Gal A) activity is absent or severely reduced and disease manifestations have an early onset that can affect multiple organs. In contrast, in later-onset Fabry disease, patients have residual α-Gal A activity and clinical features are primarily confined to the heart.”
female heterozygote expression
Fabry disease affects both males and females. In females, diagnosis can be harder because they may express normal residual alpha-galactosidase A activity.
Described as modulating: Fabry disease.
“This is a progressive and systemic disease that affects both males and females.”
How to read the evidence labels
Where this comes from
This guide is built from 11 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.