Ade has been suffering from constant illnesses since he was a child. Whenever he catches a cold or changes in cold weather, his fingers and toes will experience severe pain as if being hit by a hammer, and his skin will be covered with strange red rashes, but no cause has been found.

Until one day, Ade suddenly fainted and crashed his car. He was taken to the hospital and after an in-depth examination arranged by the hospital, it was discovered that Ade was suffering from a rare disease called Fabry’s disease. Pain in hands and feet, skin problems, and even fainting caused by irregular heartbeat are all caused by this disease.

What exactly is Fabry disease? Why do I get rashes on my fingers, severe pain in my toes, and even affect my heart health? “Hello Doctor” explores the impact of Fabry’s disease on health and introduces the symptoms and treatment of Fabry’s disease.

What is Fabry disease?

Fabry disease is a rare disease and a type of “corporeal lytic storage disease”. The role of lysosomes is described as the garbage dump of cells. They can use a variety of enzymes to digest proteins, mucopolysaccharides, glycolipids and other substances and break them down into small molecules for recycling and reuse by cells.

Fabry’s disease is considered a genetic defect. When the patient’s body lacks a lysosomal enzyme called α-galactosidase (α-GAL), resulting in the inability to metabolize cellular lipids, the disease will Related glycosphingolipids and globotriaosylceramide (GL3) gradually accumulate in cells throughout the body, causing lesions in various organs.

Three typical symptoms of Fabry disease: many complications and difficult to diagnose

Due to genetic defects, GL3 mainly accumulates in the epithelial cells of the renal glomerulus, suprarenal tubes, cardiomyocytes and valve fibroblasts, causing kidney, cardiovascular, cerebrovascular and neuropathy. Because the symptoms of Fabry’s disease are not obvious, many patients are not discovered to have Fabry’s disease through complications until adulthood or even in their 30s and 40s.

The three typical symptoms of Fabry disease are as follows:

1. Pain at the end of the limbs:
   This is the most obvious symptom, and the pain will be more severe when the weather changes and there is emotional stress. The pain includes throbbing, burning and tingling. In severe cases, patients may be unable to stand or sleep, seriously affecting their quality of life.
   
2. Skin rash:
   Dark red rash appears on the skin, mainly distributed between the lower abdomen and thighs, neck, extremities and chest.
   
3. Corneal spots:
   Radial or spiral cloudy spots appear on the cornea of ​​the eye, and sometimes the lens also becomes cloudy.

Fabry disease may cause stroke, kidney failure

The danger of Fabry’s disease is that if it is not detected and treated early, excessive accumulation of GL3 will cause disease in important organs throughout the body, such as the heart, kidneys, and cerebral blood vessels. In severe cases, it is more likely to face kidney dialysis, or even Sudden death situation.

The average age of onset of Fabry disease is 40 years, and women usually develop the disease later and have milder symptoms because the gene for Fabry disease is located on the X chromosome. Common diseased organs and complications are as follows:

1. Kidney disease:
   The renal glomerular filtration decreases and proteinuria occurs, which later evolves into renal failure.
   
2. Cardiac lesions:
   usually appear in adults, with varying severity of symptoms. Left ventricular hypertrophy, mitral valve insufficiency, palpitations, arrhythmia, and later problems such as angina pectoris and myocardial infarction are common.
   
3. Cerebrovascular disease:
   leading to ischemic stroke, cerebrovascular infarction, dizziness or headache.

Does Fabry disease affect lifespan?

Without early detection and early treatment, the life expectancy of men with Fabry disease is reduced by about 20 years on average, and by about 15 years for women.

The 4 major treatments for Fabry’s disease: Early treatment can help return to normal life

The treatment of Fabry’s disease is divided into two parts, one is symptomatic treatment, and the other is through enzyme replacement therapy (ERT), which improves the problem of excessive accumulation of GL3 by injecting α-galactosidase drugs.

If treated early, the disease can be properly controlled and a normal life can be resumed. However, if the treatment is given too late and myocardial hypertrophy or organ failure has already occurred, the difficulty of treatment will be greatly increased.

According to the common symptoms of Fabry’s disease, treatment drugs and methods can be divided into 4 categories:

1. Limb pain:
   Use Phenytoin and Carbamazepine to prevent and relieve chronic pain.
   
2. Skin Lesions:
   Dark red rashes that appear on the body are treated with laser.
   
3. Cardiovascular and cerebrovascular disease:
   Use anticoagulant drugs to improve arrhythmia, coronary artery disease, and stroke. In severe cases, coronary artery surgery may be required.
   
4. Kidney disease:
   In the early stage, drugs will be used to slow down the kidney disease. If the kidney failure has reached the end stage, kidney dialysis will be used to delay the disease.

It is recommended that newborns undergo genetic and enzyme testing

Since Fabry’s disease is a genetic disease, if any member of the family has Fabry’s disease, it is recommended that the newborn undergo genetic and enzyme testing.

Mothers can detect Fabry’s disease through genetic diagnosis before delivery and amniocentesis during pregnancy. After delivery, the baby’s α-GAL enzyme activity can be measured through the blood of the newborn’s hands and feet.