What is Fabry Disease ?
Fabry disease is a rare X-linked disorder caused by α-galactosidase A deficiency, leading to fat buildup in tissues. It affects the kidneys, heart, and nervous system, increasing the risk of kidney failure, heart attack, and stroke.
Symptoms of Fabry Disease
- 1. Pain & Burning – In hands/feet, worsens with heat or activity
- 2. Skin Spots – Dark red angiokeratomas on the torso
- 3. Sweating Issues – Reduced or absent sweating
- 4. Kidney Disease – Progressive failure over time
- 5. Heart Problems – Irregular heartbeat, enlargement, failure
- 6. Digestive Issues – Stomach pain, nausea, diarrhea
- 7. Hearing & Vision Loss – Tinnitus, hearing loss, cloudy vision
Understanding the Impacts of Fabry Disease on Your Health
The primary impact of Fabry disease includes chronic pain, kidney failure, heart disease, and stroke, which can significantly shorten life expectancy. A less visible but critical issue is its slow progression and frequent misdiagnosis, leading to delays in treatment. The disease mainly affects the kidneys, heart, and nervous system, causing progressive organ damage if left untreated. Many patients suffer from a reduced quality of life due to persistent pain, fatigue, gastrointestinal problems, and heat intolerance.
Consult Our Nephrologist
- Dr. Srikanthan Saravanan, MBBS, RENAL TRAINED ... : Specializes in nephrology with a focus on Fabry disease, kidney health, and therapeutic management. Book Appointment
- Dr. Mahmoud Hefzy Nasr, MASTER DEGREE, MEMBE... : Board-certified Nephrologist specializing in Fabry disease and kidney health. Book Appointment
- Dr. Mohammed Al-Ghamrawy, MBBCH- MS(INT.MEDICI... : Experienced nephrologist known for a compassionate approach to Fabry disease and kidney care. Book Appointment
Importance and Benefits of Consulting a Nephrologist Online
Consulting for Fabry disease is crucial due to its progressive nature and potential for severe organ damage if left untreated. This rare genetic disorder is found worldwide, with varying prevalence across regions. It is often underdiagnosed, but studies suggest higher detection rates in some countries, such as Italy and Taiwan. Due to its X-linked inheritance, it primarily affects males, though females can also experience symptoms ranging from mild to severe.
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FAQ
Fabry disease is an X-linked genetic disorder, meaning it is caused by a mutation in the GLA gene located on the X chromosome. Since males (who have only one X chromosome) inherit the mutated gene, they typically experience more severe symptoms. Females (who have two X chromosomes) can also be affected, but their symptoms may vary from mild to severe, depending on X-chromosome inactivation. A mother with Fabry disease has a 50% chance of passing the mutation to each child (male or female), while an affected father will pass the gene to all of his daughters but none of his sons since males inherit the Y chromosome from their fathers.
Fabry disease progressively affects multiple organs due to the buildup of globotriaosylceramide (Gb3) in cells, leading to widespread damage over time. In early stages, symptoms like burning pain in the hands and feet (acroparesthesia), reduced sweating, gastrointestinal issues, and heat intolerance appear. As the disease advances, it severely impacts the kidneys, heart, and nervous system. Kidney function declines, often leading to chronic kidney disease and failure, requiring dialysis or transplantation. The heart may develop arrhythmias, left ventricular hypertrophy, and heart failure, increasing the risk of stroke and cardiac complications. Neurological symptoms, including chronic pain, dizziness, and an increased stroke risk, further affect daily life. Without early treatment, Fabry disease can significantly reduce life expectancy and quality of life.
Fabry disease is caused by a mutation in the GLA gene, which provides instructions for producing the enzyme α-galactosidase A. This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3 or GL-3). When the enzyme is deficient or completely absent, Gb3 accumulates in various cells, particularly in the kidneys, heart, nervous system, and blood vessels, leading to progressive organ damage. Since Fabry disease is an X-linked genetic disorder, it is inherited through the X chromosome, primarily affecting males more severely, while females can have a wide range of symptoms due to X-chromosome inactivation.
Fabry disease cannot be cured, but treatment can help manage symptoms and slow disease progression. The primary approach is enzyme replacement therapy (ERT), which provides the missing α-galactosidase A enzyme to reduce the buildup of harmful substances in the body. Another option for certain patients is chaperone therapy, which helps stabilize the faulty enzyme and improve its function. Supportive treatments, such as pain management, kidney protection, heart medications, and stroke prevention, are also essential in reducing complications. Early diagnosis and treatment are crucial to improving quality of life and preventing severe organ damage.