Doctronic

Understanding Fabry Disease: Causes, Symptoms, Diagnosis, and Treatment Options

Jerome Albert Ecker | MD

Medically reviewed by Jerome Albert Ecker | MD, Assistant Professor of Medicine, Duke University - Durham, NC on June 22nd, 2023.

Key Takeaways

  • X-linked inheritance pattern means affected fathers cannot pass the condition to sons, but all daughters become carriers—while males typically develop severe symptoms in childhood, females may remain asymptomatic until their 40s-60s.

  • Characteristic neuropathic pain affects 60-80% of patients, often beginning in childhood as severe burning sensations triggered by fever, exercise, or stress, and may be the earliest symptom before organ involvement.

  • Kidney disease develops in 90% of untreated males by age 30, progressing to end-stage renal failure requiring dialysis or transplant, while cardiac complications include arrhythmias and heart failure from glycolipid deposits.

  • Enzyme replacement therapy with agalsidase alfa or beta requires lifelong IV infusions every 2 weeks at 0.2-1.0 mg/kg, most effective when started before irreversible organ damage occurs.

  • Oral chaperone therapy with migalastat 123mg works only in patients with specific "amenable" mutations (35-50% of cases) and can be taken at home, avoiding the need for hospital infusions.

Fabry disease is a rare genetic disorder that runs in families. It occurs when your body cannot produce enough of an enzyme called alpha-galactosidase A, which is needed to break down fatty substances in your cells. As a result, these fatty substances called globotriaosylceramide (GL-3) build up and can cause damage to various organs, including the skin, kidneys, heart, brain, and nervous system.

Causes of Fabry Disease

Fabry disease is an inherited condition passed down through genes. If you have Fabry disease, it means you were born with a deficiency or absence of the alpha-galactosidase A enzyme. This enzyme is essential for breaking down fatty substances like oils, waxes, and fatty acids in your body.

Symptoms of Fabry Disease

The symptoms of Fabry disease can vary from person to person, but some common signs include:

  • Pain and burning in the hands and feet, especially during exercise, fever, or hot weather

  • Small, dark red spots on the skin between the bellybutton and knees (angiokeratomas)

  • Heat and cold tolerance

  • Cloudy vision and hearing loss

  • Ringing in the ears

  • Reduced sweating

  • Stomach pain and frequent bowel movements after eating

If left untreated, Fabry disease can lead to more serious complications, such as:

  • Increased risk of heart attack or stroke

  • Stroke or transient ishemic attacks (TIA)

  • Kidney problems, including kidney failure

  • High blood pressure

  • Heart failure and enlarged heart

  • Osteoporosis

Understanding Fabry Disease: Causes, Symptoms, Diagnosis, and Treatment Options

Diagnosing Fabry Disease

Diagnosing Fabry disease can be challenging because its symptoms are similar to those of many other illnesses. Often, people with Fabry disease see several doctors for various symptoms before receiving the correct diagnosis. If you have a family history of Fabry disease, consider discussing genetic testing with your doctor.

During the diagnostic process, your doctor will perform a physical exam and ask about your symptoms, medical history, and family background. To confirm the diagnosis, they may order a blood test to measure the level of alpha-galactosidase A or a DNA test.

Treatment Options for Fabry Disease

Although there is no cure for Fabry disease, treatments are available to manage symptoms and slow the progression of the disorder. The most common treatment is enzyme replacement therapy (ERT), which involves regular infusions of the missing enzyme. This helps your body break down fatty substances and reduces pain and other symptoms.

Another treatment option is the oral medication migalastat (Galafold), which works by stabilizing the enzymes that are not functioning properly. This can also help alleviate the effects of the disease on your organs.

In addition to these specific treatments, your doctor may recommend:

  • Pain relief medications

  • Medications for stomach problems, such as gastroparesis

  • Blood thinners or other drugs for heart issues

  • Blood pressure medicine to protect your kidneys

Regular monitoring through blood tests, heart exams, brain scans, and other diagnostic procedures is essential to track your progress and adjust treatment as needed.

Living with Fabry Disease

Living with Fabry disease can be challenging, but there are ways to manage the condition and maintain a good quality of life. Be sure to follow your treatment plan, attend regular check-ups, and communicate openly with your healthcare team. Engage in activities you enjoy, spend time with supportive friends and family, and prioritize your well-being.

Remember, you are not alone. Organizations like the Fabry Support & Information Group can connect you with others living with Fabry disease and provide valuable resources and support.

For more information on Fabry disease, visit:

The Bottom Line

Early diagnosis before age 25 significantly improves long-term outcomes, as enzyme replacement therapy can halt progression but cannot reverse existing organ damage. Genetic testing of family members is crucial since many carriers remain undiagnosed until serious complications develop. If you're experiencing unexplained burning pain in extremities or have a family history of kidney disease, Doctronic can help connect you with appropriate genetic testing and specialist care.

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