Fabry Disease Causes Treatment

Fabry Disease: Causes, Picture, Symptoms, Diagnosis and Treatment

Fabry disease (FD) is a rare but serious condition that can put your life in danger. It is a genetic disease affecting many parts of your body. Ignoring the condition or the symptoms associated with it can have severe complications. The disease affects you because of the deficiency of an enzyme (alpha-galactosidase A). So, the problem affects your vital organs like the heart, brain, nervous system, gastrointestinal system, eyes, and skin. You need to maintain caution with the condition. Therefore, read ahead to know more it. It will equip you with the necessary knowledge to combat the condition.

What Is Fabry Disease (FD)?

Fabry Disease The progressive disease with fatal complications. It is mainly caused due to the defect in the enzyme that aids in the digestion of fats. The particular type of fat known as globotriaosylceramide piles up in your lysosomes. The gradual accumulation of fats can damage vital organs. The damaged gene in your body can lead to the defect or shortage of the enzyme. It comes under the group of diseases known as lysosomal storage disease. So, the disease can affect both men and women coming under various ethnic group. But, men are at more risk of getting affected by the disease.

German dermatologist Johannes Fabry and British surgeon William Anderson described the condition simultaneously in 1898. Therefore, the condition is also known as Anderson-Fabry disease. The alpha-galactosidase An enzyme breaks down the fatty substance in the body. It is important for your metabolism. The fatty substance also is known as globotriaosylceramide (GL-3 or GB-3) can accumulate without proper breaking down. So, it can accumulate in the cells throughout the body. It can trigger cell damage.


Classification Of Fabry Disease

You can classify the Fabry disease into two basic types.

Type 1 FD

It is also known as the classic Fabry disease. It affects small children. So, the symptoms can start at an early age. It is a rare disease and appears less commonly. Only one out an estimated 117,000 individual suffered from the form of the disease.

Type 2 FD

The disease develops in the later part of life. People suffering from type 2 FD can suffer from renal failure or heart complications. In most cases, the variant is detected only during a routine kidney or heart assessment.

Symptoms Of Fabry Disease

Fabry disease has different symptoms. So, it becomes difficult to detect the problem exactly as it is similar to others. The symptoms may also vary depending on men and women.

Signs Of Type 1 FD

The type of Fabry disease shows the symptoms in the early part of life. So, small kids can suffer from the symptoms. The following signs indicate the presence of type 1 FD.

Tingling Pain

Children between the ages of 2 and 8 years old can suffer from the burning pain in the hands and feet. In women, the particular symptom can appear in later part of childhood. At times, it may appear in women during their adolescence. They can experience intense pain episodes that can last for a few minutes to several days. Such episodes are termed Fabry crises.

Lack Of Sweat

The lack of sweat production is another sign that indicates the problem. it is more common among males compared to females.

Skin Rash

Skin Rash

You can get skin rashes known as angiokeratoma. It has a reddish-purple appearance. You can mostly see the rash appearing on the area between the knees and belly button. So, the slightly raised rash indicates something is wrong.

Stomach Problems

Type 1 Fabry disease can trigger diverse stomach problem including gas, cramps, and diarrhea.

Abnormal Corneas

The blood vessels surrounding the eye region can suffer a change in appearance. But, as it does not affect your vision, you may not take it seriously.

Other Signs

The type 1 FD can trigger several other health issues like:

  • Dizziness
  • A headache
  • Nausea
  • Tiredness
  • Heat Intolerance
  • Feet/Legs Swelling (in men)

It is the progressive issue that can start early. So, by the time a patient reaches their 30s or 40s, the disease can cause damage. It can lead to severe complications like heart disease, stroke, and kidney disease.

Symptoms Of Type 2 FD

People affected by type 2 FD suffer problems in the same areas like the type 1. The only difference is the time of occurrence of the symptoms. It occurs when people are aging. So, the signs appear in later part of the life. An individual between the ages of thirty and sixty suffer from the issue. The symptoms may vary from person to person. But, the common signs are:

Renal Problem

Progressive kidney disease that reduces the organ function considerably. It can advance to kidney failure.

Heart Problems

You can experience heart enlargement. Heart-related chest pain known as angina can also affect you. So, the FD type 2 can cause other heart problems like thickening of heart muscle, irregular heartbeat, and ultimately heart failure


It is the common sign of Fabry disease (type 2) that occurs in both men and women in their forties. But, the occurrence is more common among women compared to men.

Stomach Problem

You can also experience stomach pain and diarrhea. It occurs mostly in women.

Other Common Signs

The other common signs associated with the type 2 FD are:

Causes Of Fabry Disease

You may think what triggers the problem. Some of the major causes of the issue are:

Inherited Fabry Disease

Inherited Fabry Disease


You can inherit the FD when a specific gene mutation occurs. When parents have the damaged gene, the possibility of the child getting the gene mutation is higher. Generally, you can find the damaged gene in the X chromosome. It is one of the two chromosomes that determine the sex of a baby. While the female child has two X chromosome, the male baby has one X and one Y chromosomes.

X chromosome

So, a man who has the FD gene mutation can pass it on to his daughter (due to the X chromosome). But, the same person cannot pass the gene damage to his sons. It is due to the fact that the sons have a Y chromosome, which has no damaged gene.

The woman with the FD gene mutation with one damaged X chromosome has a 50% chance of passing the problem to her sons or daughters. The son who gets the defected X chromosome inherits the Fabry disease. The daughter has less severe signs of FD as she has two X chromosomes. The daughter’s body cell may not activate the defected X chromosome. It depends on whether or not the defective X chromosome gets activated. It can occur early during the development phase. So, it stays the same for the rest of life.

Gene Mutation

The GLA gene can get affected by the mutation. Around 370 mutations in the GLA gene can lead to Fabry disease. The specific mutation runs in the families. The GLA gene in your body is responsible for the production of the enzyme known as alpha-galactosidase A. you need the specific enzyme for the breaking of the molecules. So, it aids in breaking the molecules in the GL-3 (globotriaosylceramide) cells.

The damage of the GLA gene leads to the non-functioning of the enzyme. So, it cannot break down the GL-3. As a result, the GL-3 cells can accumulate in your body. It mostly builds up in the cells of different organs. With the progressing time, the fatty buildup damages the cells. So, it can cause damage to the blood vessels of the different organs like:

  • Kidneys
  • Heart
  • Nervous System
  • Skin

The severity of the problem depends on the extent of the GLA gene mutation. So, the degree of mutation differs from one person to another.

Diagnosis Of Fabry Disease

You may not detect the issue at first. The symptoms of FD are similar to other health problems. You can experience the signs long before you diagnose the issue. In most of the cases, people detect the problem once they experience an FD crisis. The type 1 Fabry disease gets diagnosed in a child based on the signs they suffer. In adults, the problem comes to the notice during the treatment of kidney or heart disease. You need prompt detection of the disease. It is due to the fact that progressive disease can cause harm if delayed. The symptoms worsen gradually over time. So, you need to get early treatment to overcome the issue. Once your doctor suspects the problem, the following diagnostic methods can establish it.

Blood Test

For men suffering from FD, a blood test can confirm it. The blood test measures the number of damaged enzymes in your body. Based on the results, your doctor can take further steps. Unfortunately, the test cannot determine the issue in women. Women may show normal blood test result even with damaged enzymes. In such cases, other tests can detect the problem.

Genetic Testing

Genetic Testing

The FD diagnosis in women is done by the genetic testing. Blood test fails to indicate the organ damage in women. So, the genetic test can detect the issue. The test checks for the defective GLA gene. Therefore, the results can confirm the presence of FD.

MRI (Magnetic Resonance Imaging)

MRI (Magnetic Resonance Imaging)

The damage to the nervous system gets detected with sophisticated imaging tests. MRI can detect the problem in the central nervous system along with the previous abnormalities.

Prenatal Tests

For parents with a history of Fabry disease, the chances of it affecting their children are high. So, prenatal tests can confirm or eliminate the chances of the baby having FD.

Fabry Disease Treatment Options

When you suspect you have FD, you need to seek medical help. A specialist doctor can determine if you suffer from Fabry disease. Once, the problem gets established, you need to follow the treatment plan suggested by your doctor. The treatment focusses on managing the symptoms. It is due to the fact that you cannot cure FD completely. So, your doctor suggests methods to prevent pain. It also prevents further damage to your organs. Also, you need to see your doctor regularly. It is to monitor the symptoms and take the necessary actions. So, your doctor can adopt the following treatment methods:

Enzyme Replacement Therapy (ERT)

ERT is the preliminary treatment plan offered to all FD patients. As the name suggests, it replaces the deficient enzyme in your body. It is the treatment administered to you intravenously. An IV can also administer the therapy. Therefore, treating with the solution containing Farazyme (Agalsidase beta) can avoid complications associated with the disease.

Pain Management

The damage to the cells can put your pain. Therefore, you need pain management to limit the agony. Your doctor may suggest avoiding activities that can trigger the symptoms. The strenuous activities or change in temperature can worsen the problem. So, you need to avoid such factors. Your doctor also prescribes medication to handle the pain. So, the common medications that relieve the discomfort associated with Fabry disease are:

  • Dilantin (diphenylhydantoin)
  • Tegretol (carbamazepine)

You need to take the medications every day to reduce pain and prevent further complications.

Handling Kidney Problems

Kidney problems are one of the main complication associated with Fabry disease. So, you need proper treatment to get back the kidney function. The treatment is based on the severity of the issue.

Mild Problem

For mildly reduced kidney function, changing the diet can ensure enhanced kidney function. Therefore, you need to take a low-sodium, low-protein diet. It reduces the pressure on the kidneys. So, your kidneys can increase efficiency without too much hassle.

Severe Problem

For severe kidney problem, you need to undergo dialysis. The severe kidney problem can result in the accumulation of waste and water. So, you need dialysis to flush out the wastes, water, and chemical deposits. Depending on the severity of your problem, you may need dialysis up to three times a week. When the kidney gets damaged completely, you need a transplant.

Treatments For Other Health Problems

FD may trigger heart problems. So, your doctor can adapt treatment for the issue. The medication is similar to one of the people with heart disease without FD. The medications are also prescribed to reduce the risk of stroke. People suffering FD can endure stomach problems. Depending on the severity, you may have to include a special diet or take medication.


Smoking can worsen the problem. Therefore, people with Fabry disease need to quit smoking. Leading a good lifestyle with no bad habits can control the issue.

Complications of Fabry disease

The early detection and medication can prevent several complications. The progressive disease has the potential to wreck your life. If you choose to not seek treatment, then it can result in severe complications like:

End-Stage Renal Disease

The Fabry disease can damage your kidneys completely. So, unless you seek treatment for the kidney problem, you can face fatal consequences. You need to undergo dialysis or kidney transplant. The risk is more prominent for men. Men with FD have more chances to develop kidney problems compared to women.

Heart Failure

Heart problem is another common complication associated with FD. Untreated heart problems can lead to death. It is one of the major causes of losing lives. So, it is better to seek immediate treatment.


Depression is another common yet overlooked complication associated with FD. People who suffer from complication can get depressed. They have a negative thought about life. Therefore, it is essential to reach out to people who can understand the issue well. Professional counselors or support groups have the resources to help people suffering from FD. The family and friends of people with FD also need support and help to cope with the situation. So, getting information and seeking help from the organization for people with Fabry disease can help overcome depression.

How To Prevent Fabry Disease?

Fabry disease is genetic or inherited. Therefore, you have no methods to prevent it completely. But, you can make a difference with early diagnosis. When you seek treatment for the problem at the earliest, you can prevent the complications. So, it can slow down progress. At times, early treatment stops the disease. Visit the doctor once you notice the symptoms. People with a family history of FD need to maintain caution. Consulting the doctor at the right time will help figure out steps to minimize the problem. Therefore, the right plan can minimize the symptoms and slow its progress.


You need to understand that you cannot completely cure Fabry disease. But, good treatment options can minimize their risk. Treatments like ERT can stabilize the symptoms. It can also lower the FD crises occurrences. The high awareness regarding the disease now makes it possible to find new options. With research going on for a new treatment, the chances to manage it becomes higher. Clinical trial treatments like gene replacement therapy and chaperone therapy provide hope to the FD affected people. Learning more about the disease can help you become aware of the issue. So, you can brace yourself to face the problem.

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