What is Fabry Disease?

Fabry disease is an inherited condition that causes a buildup of fatty substance in the body, leading to pain and inflammation, especially in the hands and feet. The disorder is also seen to narrow down the blood vessels, which can affect the heart, brain, kidneys, and the nervous system. Although there is no cure for Fabry disease, timely treatment can help to put its symptoms under check and reduce its effects on the patient’s overall health.

Causes and Symptoms

Fabry disease usually runs in families. The condition occurs when a defective gene is passed down by either or both the parents to the child. The mutated gene hinders the body from producing an enzyme known as alpha-galactosidase A, which is required to break down fatty substances in the body. Usually, the condition starts developing in the early days of childhood, and its symptoms become more apparent as the child reaches the teenage years. 

The most common symptoms of Fabry disease include pain and burning in the hands and feet, which become worse when you workout or when you are tired. The painful feeling would double in case you have a fever or are out on a hot summer day. Apart from that, you would also see small red blisters and/or spots on your lower abdomen area and thighs. Other than that, you can also have symptoms like:

  • Cloudy or blurred vision
  • Loss in hearing and/or ringing in the ears
  • Excessive sweating
  • Stomach pain
  • Bowel movements immediately after having a meal

Fabry disease can be more serious in men when compared to women. It can even lead to complications like high blood pressure, osteoporosis, kidney problems, and enlargement of the heart. In some cases, the condition also increases the risk of heart attack and stroke. That is why it is very important to consult with a doctor at the nearest community healthcare center and explore the available treatment options as soon as you notice any symptoms of Fabry disease.

Diagnosis and Treatment

Generally, the symptoms of the disease affect different parts of the body, so the doctor would check your medical history to rule out the chances of other conditions that could be causing the symptoms. Your doctor might also check your family’s medical history to see if you could be at the risk of developing Fabry disease. If he/she suspects that to be the cause, your doctor might recommend a genetic test to confirm the same.

Besides, as the symptoms of the disorder are common and can be caused due to other complications as well, your doctor might recommend a few tests to diagnose Fabry disease. Usually, a blood test is recommended to check the level of alpha-galactosidase A in your body, while a DNA test would be advised if Fabry disease runs in your family. Based on the results of the tests, your doctor would draft a treatment plan to deal with your condition in the best possible way.

There are mainly two treatment options for Fabry disease: Enzyme Replacement Therapy (ERT) and oral medication Migalastat. ERT is the most common treatment option for the condition, which works by replacing the missing or faulty alpha-galactosidase A enzyme in the body. This restores the body’s normal function of breaking down fatty substances and eases the symptoms of the disorder. The second option, Migalastat, is a relatively new treatment method that works by stabilizing the alpha-galactosidase A enzyme level in the body. This is an oral medication approved by the US Food and Drug Administration to deal with the effects of Fabry disease.

In addition to the main treatment options, your doctor might also recommend taking medications for pain relief, to ease stomach problems, as well as to maintain the blood pressure. The doctor might also prescribe blood thinners or other medications to stabilize heart rate and restore kidney functions to normal. In some cases, the patient might also need to undergo dialysis or a kidney transplant if Fabry disease had already caused severe kidney damage.

Follow-Up Tests

It is recommended to schedule regular visits to your nearest community healthcare center and get a few tests done to keep track of your health. The commonly suggested follow-up tests include blood tests, electrocardiogram, urinalysis, thyroid tests, MRI scans, CT scans, and hearing and eye tests. In some cases, an echocardiogram is also recommended to check the health of the heart and see if it is pumping well. In addition, a lung function test might also be recommended post-treatment to check the level of oxygen in the blood.

You are also required to take care of yourself and engage in things that you enjoy. However, make sure to consult with your doctor before you try any sport or physical activity that could exhaust you. Instead, take part in less energy-consuming activities like arts and crafts, and spend some quality time with your family and friends.