Causes and Diagnosis of Fabry disease | Endocrinology

Fabry disease

What is Fabry disease?

Fabry disease is hereditary. You can have various symptoms, such as pain in the hands and feet and a certain type of rash. When you have Fabry disease, a certain type of fat builds up in the cells of your body. It narrows the blood vessels, which can damage the skin, kidneys, heart, brain, and nervous system.

Your doctor will call Fabry disease a “storage disorder.” It usually begins in childhood and is more common in men than in women. There are treatments for how you feel on a daily basis. Getting the support of your family and friends is also very important.

Who gets Fabry disease?

People with Fabry disease inherit a mutated gene on the X chromosome from their parents. Males inherit an X chromosome from their mothers. Females have two X chromosomes, one from each parent. Parents can pass the faulty gene that causes Fabry disease to their children in a number of ways:

  • Parents pass their X chromosomes to all their daughters with defective gene.
  • All of these daughters have a genetic mutation that causes Fabry disease.
  • Children are not at risk because men inherit the Y chromosome (not the X chromosome) from their parents.
  • Mothers are 50% more likely to pass the affected X chromosome to their daughters or sons.
  • Some family members may have a genetic mutation, while others do not.

What are the types of Fabry disease?

Fabry disease types reflect a person’s age when symptoms first appear. Types:

  • Classic type: Symptoms of classic Fabry disease appear in childhood or adolescence. A distinctive symptom, a painful burning sensation in the hands and feet, can be noticed by the age of two. Symptoms gradually get worse over time.
  • Late-onset / typical type: People with late-onset Fabry disease have no symptoms until age 30 or older. The first sign of a problem may be kidney failure or heart disease.

How common is Fabry disease?

One in 40,000 men has classic Fabry disease. Late or typical Fabry disease is more common. It affects one in 1,500 to 4,000 men. Experts are not sure how many women have Fabry disease. Some women have no or mild to moderate symptoms, so this condition is usually not diagnosed in women.

Symptoms of Fabry disease

You may notice:

  • Exercise, fever, heat, or pain and burning in your arms and legs when you are tired
  • Small dark red spots usually appear between the belly button and the knees
  • Cloudy vision
  • Hearing loss
  • Ringing in the ears
  • Sweating less than usual
  • Stomach pain, bowel movements immediately after eating

Fabry disease can cause more serious problems, especially in men. These include:

  • Chance of having a heart attack or stroke
  • Severe kidney problems, including kidney failure
  • Hypertension
  • Heart failure
  • Dilated heart
  • Osteoporosis

What Causes Fabry Disease; Is genetic?

  • Fabry disease is a genetic disorder. A genetic disorder is caused by a mutation or change in a part of a person’s DNA.
  • In Fabry disease, the defective gene is on the X chromosome, one of the two sex chromosomes.
  • Sex chromosomes determine a person’s sex at birth. We all inherit one sex chromosome from each parent. While mothers travel only on the X chromosome, fathers can travel on the X or Y chromosome.
  • The chromosome sent by the father determines the sex of the offspring: females have two X chromosomes (XX) and males have one X chromosome and one Y chromosome (XY).
  • Fabry disease mainly affects men who receive an X chromosome with an abnormal gene.
  • Women with Fabry disease also receive an X chromosome with a defective gene; Since women have two X chromosomes, a common X chromosome provides some protection against developing the disorder.
  • Fabry disease is caused by a genetic mutation that results in a deficiency of an enzyme called alpha-galactosidase A (A-gal A). A genetic defect causes the body not to get enough of this enzyme, leading to the accumulation of fat called globotriaosylceramide (GB3 or GL-3) in the body.
  • Fabry disease is the result of what is known as X-linked inheritance, that is, a disease caused by a defect in the X chromosome. Genetic mutations linked to the X chromosome occur mainly in men and rarely in women.
  • If a mother carries a defective gene for Fabry disease, both men and women have a 50% chance of inheriting it from their mother. If the father is a carrier of the Fabry gene, the female offspring will inherit the defective gene, because the father will pass the X chromosome to them, but the male children with the Y chromosome will not.
  • Women who inherit a defective X chromosome are called carriers and can pass the genetic mutation on to their male offspring.

How is Fabry disease diagnosed?

Your healthcare provider may order tests to diagnose Fabry disease, including:

  • Enzyme test: This test measures alpha-GAL enzymes in the blood. Measurements of 1% or less indicate disease. This test is very reliable for men and should not be used for women.
  • Gene: Since women with this disease have normal levels of alpha-GAL enzymes, providers use genetic testing (DNA sequencing) to detect GLA mutations.
  • Neonatal Screenings: Some states screen newborns for Fabry disease and other lysosomal storage disorders. Enzyme testing is included as part of routine neonatal testing.

Treatment of Fabry disease

There are two treatments. The most common is enzyme replacement therapy (ERT), which replaces a missing or malfunctioning enzyme. This allows your body to break down fatty acids. Helps reduce pain and other symptoms caused by Fabry disease. Visit a patient centre every few weeks to inject the enzyme into a vein.

The new choice is oral drug Migalastat (Galafold). This is in contrast to ERT, which acts to stabilize inactive enzymes. It also helps reduce the effects of the disease on your organs.

Your doctor may also recommend:

  • Pain relievers (prescription or non-prescription)
  • Medicines for stomach problems.
  • Blood thinners or other medicines for irregular heartbeats or other heart problems
  • Blood pressure medicine, which also helps protect your kidneys.
  • You may need dialysis or a kidney transplant if it causes severe kidney damage.

You can also expect to have regular tests to see how you are doing. These may include:

  • Blood, urine and thyroid tests.
  • EKG (electrocardiogram): A nurse or other medical professional will place soft, sticky patches on various parts of your body. These patches measure your heart’s electrical signals and tell you how fast your heart is beating and if there is a healthy rhythm.
  • Echocardiogram: This is an ultrasound of your heart. It shows that all parts of your heart are healthy and that you are pumping well.
  • Brain MRI: An MRI, or MRI, takes pictures of your body’s organs and structures.
  • CT of her head: A CT scan, or CT scan, is a powerful X-ray that generates detailed images of the inside of your body.
  • Hearing and eye exams
  • Pulmonary function test to see how much air you breathe in and out, and how much oxygen your blood is getting

Take care of yourself

Be good to yourself. Do the things you enjoy, spend time in good company, and save energy for the things that are really important to you. Part of this may be saying “no” and letting people know what helps you.

Your family and friends may not know much about Fabry disease. Help them understand what is happening to you. Sometimes when people have serious health problems, they become depressed or anxious because the problem is too high. Your doctor should check how you feel, but you should mention it and ask for a referral to a counsellor. Talking to someone can help.

What are the complications of Fabry disease?

Years of the build-up of the fatty substance can damage blood vessels and lead to life-threatening problems, such as:

  • Heart problems, including arrhythmia, heart attacks, an enlarged heart and heart failure.
  • Kidney failure.
  • Nerve damage (peripheral neuropathy).
  • Strokes, including transient ischemic attacks (TIA or ministrokes).
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