What are the symptoms of Fabry disease?

Fabry disease is a rare genetic disorder that can affect many parts of the body, including the kidneys, heart, and skin. It is caused by a deficiency of an enzyme called alpha-galactosidase A, which leads to the buildup of a specific type of fat in the body’s cells. Symptoms of Fabry disease can vary widely among affected individuals, but some common symptoms include:

1. Pain and burning sensations in the hands and feet (acroparesthesia)
2. Small, dark red spots on the skin (angiokeratomas)
3. Cloudiness or reduced vision
4. Hearing loss
5. Gastrointestinal issues, such as abdominal pain, diarrhea, and nausea
6. Sweating abnormalities
7. Heat and cold intolerance
8. Enlargement of the heart (cardiomegaly) or heart valve abnormalities
9. Kidney dysfunction, including proteinuria (protein in the urine) and eventually kidney failure

Symptoms of Fabry disease typically appear in childhood or adolescence and worsen over time. It’s important for individuals with Fabry disease to receive ongoing medical care from a healthcare team familiar with the condition to manage symptoms and prevent complications.

What are the causes of Fabry disease?

Fabry disease is caused by mutations in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (GL-3 or Gb3). Mutations in the GLA gene result in a deficiency or complete absence of alpha-galactosidase A activity, leading to the accumulation of GL-3 in the body’s cells.

Fabry disease is inherited in an X-linked manner, which means that the defective gene responsible for the disorder is located on the X chromosome. Since males have only one X chromosome (XY), a mutation in the GLA gene on their single X chromosome will result in Fabry disease. Females, who have two X chromosomes (XX), are usually carriers of the mutated gene and may experience milder symptoms or be asymptomatic. In some cases, females can also have severe symptoms if both of their X chromosomes carry the mutated gene.

Because Fabry disease is inherited, individuals with a family history of the disorder are at an increased risk of being affected. Genetic testing can confirm a diagnosis of Fabry disease and identify carriers of the mutated gene.

What is the treatment for Fabry disease?

The treatment for Fabry disease aims to manage symptoms, prevent complications, and improve quality of life. The primary treatment for Fabry disease is enzyme replacement therapy (ERT), which involves regular infusions of a synthetic form of the missing or deficient enzyme, alpha-galactosidase A. ERT can help reduce the buildup of globotriaosylceramide (GL-3) in the body’s cells and improve symptoms such as pain, kidney function, and heart problems.

In addition to ERT, other treatments and strategies may be used to manage specific symptoms and complications of Fabry disease. These may include:

1. Pain management: Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) or anticonvulsants may be used to manage pain and burning sensations.
2. Kidney protection: Blood pressure control and medications to reduce proteinuria (protein in the urine) may help protect the kidneys.
3. Heart monitoring and treatment: Regular cardiac evaluations, including electrocardiograms (ECGs) and echocardiograms, can help monitor heart function. Medications or other treatments may be prescribed to manage heart-related complications.
4. Gastrointestinal symptoms: Dietary modifications, medications to manage gastrointestinal symptoms, and adequate hydration may help alleviate gastrointestinal issues.
5. Supportive care: Physical therapy, occupational therapy, and speech therapy may be beneficial for individuals with Fabry disease to improve mobility, function, and communication.

It’s important for individuals with Fabry disease to receive ongoing care from a healthcare team experienced in managing the condition. Genetic counseling is also recommended for individuals and families affected by Fabry disease to understand the inheritance pattern and options for family planning.