Fabry Disease: Symptoms, Causes, Diagnosis & Treatment

Written by Medicover Team and Medically Reviewed by Dr Krishna Haskar Dhanyamraju , Neurologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Fabry disease is a rare inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to the buildup of fatty substances in the body's cells. It can affect the kidneys, heart, nervous system, and skin, causing symptoms such as burning pain in the hands and feet, skin lesions, reduced sweating, and progressive organ damage. Early diagnosis and timely treatment can help manage symptoms, slow disease progression, and improve quality of life.

What are the Types of Fabry Disease?

Fabry disease is a genetic disorder that can present in different forms based on the severity and age of onset.

Classic Fabry Disease

Classic Fabry disease typically presents in childhood or adolescence. Symptoms tend to be severe and progress quickly if not treated.

Late-Onset Fabry Disease

Late-onset Fabry disease appears later in life, often with milder symptoms. It might not be diagnosed until adulthood because the symptoms develop more slowly.

What are the Symptoms of Fabry Disease?

Fabry disease is a genetic disorder that affects multiple organs, and symptoms can vary depending on the type and severity. They often begin in childhood or adolescence in the classic form.

Early Symptoms

Early signs of Fabry disease can include:

Burning pain in the hands and feet
Red or dark purple skin spots (angiokeratomas)
Decreased ability to sweat
Cloudiness in the eye (corneal opacity)
Hearing loss

Advanced Symptoms

As the disease progresses, more severe symptoms can develop, including:

Kidney failure
Heart problems
Stroke
Gastrointestinal issues

What are the Common Causes of Fabry Disease?

Fabry disease is caused by a genetic mutation affecting enzyme production. It is inherited and can run in families, making early awareness important for prevention and management.

Mutation in the GLA gene
X-linked inheritance pattern
Family history of Fabry disease
Deficiency of alpha-galactosidase A enzyme

When to See a Doctor for Fabry Disease?

Persistent burning pain in the hands or feet, unexplained kidney or heart problems, or a family history of Fabry Disease should be evaluated by a geneticist, nephrologist, neurologists or cardiologist. Early diagnosis helps delay disease progression and improve long-term outcomes.

You should see a doctor if you have:

Recurring burning pain in the hands or feet.
Unexplained kidney, heart, or neurological symptoms.
A family history of Fabry Disease or other inherited metabolic disorders.

Get medical help immediately if:

Sudden chest pain or difficulty breathing.
Signs of a stroke, such as weakness, facial drooping, or difficulty speaking.
Severe kidney problems or loss of consciousness.

These could be signs of a serious complication like Fabry Disease, which needs urgent care.

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How is Fabry Disease Diagnosed?

Fabry disease is diagnosed through a combination of clinical evaluation, laboratory tests, and genetic analysis to confirm enzyme deficiency and identify mutations.

Initial Assessment

Doctors may suspect Fabry disease based on symptoms and family history. They will perform a physical examination and ask about the patient's medical history.

Diagnostic Tests

Several tests can confirm a Fabry disease diagnosis:

Enzyme Assay: This blood test measures the activity of the alpha-galactosidase A enzyme.
Genetic Testing: DNA tests can identify mutations in the GLA gene responsible for Fabry disease.
Urine Analysis: The presence of a "maltese cross" pattern in urine under a microscope is a hallmark of Fabry disease.

What are the Treatment Options for Fabry Disease?

Treatment for Fabry disease focuses on replacing the missing enzyme, reducing symptoms, and preventing organ damage. Early intervention is important for better outcomes.

Enzyme Replacement Therapy (ERT)

ERT involves regular infusions of a synthetic version of the alpha-galactosidase A enzyme. This treatment helps reduce the buildup of fat in the body and alleviate symptoms.

Chaperone Therapy

Chaperone therapy uses small molecules to stabilize the defective enzyme and enhance its function. This treatment is suitable for certain types of genetic mutations.

Gene Therapy

Gene therapy is an experimental approach that aims to correct the underlying genetic defect. Researchers are actively studying this promising treatment.