Sandeep Dhand
Nutritionist And Health Educator
Fabry Disease is a rare genetic disorder that affects the body’s ability to break down a specific type of fat. It is an X-linked inherited disorder, which means it primarily affects males, though females can also have symptoms. This disease can cause problems in various organs, including the heart, kidneys, skin, and nervous system. Early detection and proper management can improve the quality of life for individuals with Fabry Disease.
What is Fabry Disease?
Fabry Disease is caused by a deficiency or complete absence of an enzyme called alpha-galactosidase A (α-GAL A). This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (GL-3 or Gb3). When this enzyme is missing or not working properly, Gb3 accumulates in the body’s cells, leading to serious health problems over time.
It is classified as a Lysosomal Storage Disorder (LSD) because it affects the lysosomes, which are responsible for breaking down and recycling waste in the cells.
Causes of Fabry Disease
Fabry Disease is caused by a mutation in the GLA gene, which provides instructions for producing the α-GAL A enzyme. Since this gene is located on the X chromosome, the disease is inherited in an X-linked pattern.
Males who inherit the faulty gene develop the disease because they have only one X chromosome.
Females may have mild to severe symptoms or sometimes no symptoms at all because they have two X chromosomes (one normal and one affected).
Types of Fabry Disease
There are two main types of Fabry Disease:
A. Classic Fabry Disease
Symptoms appear in childhood or adolescence (usually between ages 3-10).
It progresses over time, affecting multiple organs.
Early symptoms include burning pain in hands and feet, heat intolerance, and skin rashes.
B. Late-Onset Fabry Disease (Non-Classic)
Symptoms develop in adulthood, usually between ages 30-60.
It primarily affects the heart, kidneys, and nervous system.
It can lead to life-threatening conditions like heart failure, kidney failure, or strokes.
Symptoms of Fabry Disease
Symptoms of Fabry Disease vary depending on the individual. Some people may have mild symptoms, while others experience severe complications.
A. Common Symptoms in Childhood & Adolescence
Burning pain or tingling in hands and feet (Acroparesthesia)
Decreased sweating (Hypohidrosis) or excessive sweating
Heat intolerance
Red or purple skin rashes (Angiokeratomas)
Digestive problems (bloating, diarrhea, nausea)
Hearing loss or ringing in the ears (Tinnitus)
B. Common Symptoms in Adults
Kidney damage or kidney failure
Heart problems, including thickening of the heart muscles (Hypertrophic Cardiomyopathy)
High blood pressure (Hypertension)
Stroke or mini-strokes
Fatigue and weakness
Emotional and mental health issues, such as anxiety and depression
How is Fabry Disease Diagnosed?
Doctors use several methods to diagnose Fabry Disease:
A. Blood Test for Enzyme Activity
Measures the level of α-GAL A enzyme in the blood.
Low or absent enzyme activity confirms the disease in males.
B. Genetic Testing
Identifies mutations in the GLA gene.
Used to confirm Fabry Disease in both males and females.
C. Urine Tests & Kidney Function Tests
Detects excess GL-3 (Gb3) in urine.
Checks for kidney damage.
D. MRI & Echocardiogram
Helps detect heart and brain-related complications.
E. Skin or Tissue Biopsy
Examines cells for fat deposits under a microscope.
Treatment Options for Fabry Disease
While there is no permanent cure for Fabry Disease, several treatments can help manage symptoms and prevent complications.
A. Enzyme Replacement Therapy (ERT)
ERT provides the missing α-GAL A enzyme through intravenous (IV) infusions.
Helps reduce the buildup of GL-3 (Gb3) in cells.
Available options include Agalsidase Alfa (Replagal) and Agalsidase Beta (Fabrazyme).
Lifelong therapy is required.
B. Chaperone Therapy
Involves taking oral medications that help stabilize the faulty enzyme so it can function properly.
Migalastat (Galafold) is a commonly prescribed drug.
C. Pain Management
Medications like Gabapentin, Carbamazepine, and Pregabalin help control nerve pain.
Acupuncture, physical therapy, and lifestyle modifications can also help.
D. Kidney and Heart Treatments
ACE inhibitors & ARBs protect the kidneys.
Beta-blockers & blood thinners help prevent heart complications.
Dialysis or kidney transplant may be necessary in advanced cases.
Diet Plan for Fabry Disease
A healthy and balanced diet can help manage symptoms, protect the kidneys and heart, and improve overall well-being.
A. Foods to Eat
✔ Protein-Rich Foods (to prevent muscle loss)
Lean meats: Chicken, fish, turkey
Plant proteins: Lentils, beans, tofu, quinoa
✔ Heart-Healthy Fats (to protect heart and brain)
Olive oil, avocado, nuts, seeds, and fatty fish (salmon, mackerel)
✔ High-Fiber Foods (for digestive health)
Fruits: Apples, pears, berries
Vegetables: Spinach, carrots, bell peppers
Whole grains: Brown rice, oats, quinoa
✔ Kidney-Friendly Foods
Low-sodium foods to reduce kidney strain
Plenty of water to prevent dehydration
Herbal teas and coconut water for hydration
B. Foods to Avoid
❌ High-Sodium Foods
Processed foods: Chips, canned soups, pickles
Fast food and junk food
❌ High-Fat & Fried Foods
Deep-fried items, margarine, processed meat
❌ Sugary Foods & Drinks
Sodas, sweets, packaged fruit juices
❌ High-Protein Diet (for advanced kidney disease patients)
Too much red meat or dairy can strain the kidneys
Lifestyle Tips for Managing Fabry Disease
Apart from medical treatment and diet, lifestyle changes can help improve health and reduce symptoms.
✅ Stay Active: Engage in light exercises like walking, swimming, or yoga.
✅ Manage Stress: Practice meditation and deep breathing.
✅ Regular Health Checkups: Monitor kidney and heart health.
✅ Avoid Alcohol & Smoking: These can worsen complications.
✅ Stay Hydrated: Drink at least 2-3 liters of water daily.
Conclusion
Fabry Disease is a serious but manageable condition if diagnosed early. Treatments like enzyme replacement therapy (ERT), chaperone therapy, and pain management can improve the quality of life. A healthy diet, regular exercise, and lifestyle modifications play a crucial role in managing symptoms and preventing complications. If you or someone you know has Fabry Disease, it is essential to work closely with healthcare professionals for proper care and management.
By spreading awareness about Fabry Disease, we can help those affected get the support and treatment they need.