Fabry Disease

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Description

Fabry disease is a rare genetic disorder that affects the body‘s ability to break down certain fats called lipids. This buildup of lipids in the body‘s cells can lead to a variety of health problems, including pain, kidney failure, heart problems, and strokes. Fabry disease is inherited in an X-linked recessive pattern, which means that it is more common in males than females. There is no cure for Fabry disease, but treatment can help to manage the symptoms and prevent complications. This blog will delve into the details of Fabry disease, exploring its causes, symptoms, diagnosis, treatment, and how individuals with Fabry disease can thrive.

Genes Involved

Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A (α-Gal A). This enzyme helps break down a type of fat called globotriaosylceramide (Gb3). Mutations in the GLA gene lead to a deficiency of α-Gal A, resulting in the buildup of Gb3 in various tissues and organs.

Recognizing the Signs and Symptoms

The signs and symptoms of Fabry disease can vary widely depending on the age of the individual and the severity of the condition. Some common symptoms include:

• Pain: This can be a burning or aching pain in the hands, feet, and legs, especially during or after exercise. The pain can also occur in the abdomen, back, and chest.
• Skin problems: A rash, especially on the arms and legs, can be a sign of Fabry disease. The rash may be red, itchy, and swollen.
• Kidney problems: Fabry disease can lead to kidney damage, which can cause high blood pressure, protein in the urine, and kidney failure.
• Heart problems: Fabry disease can affect the heart, leading to thickening of the heart muscle, heart rhythm problems, and heart failure.
• Stroke: In some cases, Fabry disease can increase the risk of stroke.
• Eye problems: Fabry disease can cause clouding of the cornea, which can affect vision.

Causes

Fabry disease is caused by a deficiency of the enzyme alpha-galactosidase A (α-Gal A). This enzyme is responsible for breaking down a type of fat called globotriaosylceramide (Gb3). Without enough α-Gal A, Gb3 builds up in the body‘s cells, leading to damage in various organs. The deficiency is caused by mutations in the GLA gene, which provides instructions for making α-Gal A.

Inheritance/recurrence risk

Fabry disease is inherited in an X-linked recessive pattern. This means that the gene responsible for the disease is located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome.

• For females: If a female inherits one copy of the mutated GLA gene, she is a carrier of the disease. She may have mild or no symptoms. However, there‘s a 50% chance of passing the mutated gene to her sons, who would then have Fabry disease.

• For males: If a male inherits a mutated GLA gene from his mother, he will have Fabry disease. This is because males only have one X chromosome.

There is a 50% chance of inheritance for each child born to a carrier mother. While there‘s no cure for Fabry disease, early diagnosis and treatment can help manage symptoms and prevent complications.