Fabry disease is a rare genetic condition that affects the body’s ability to break down a specific lipid called globotriaosylceramide (Gb3). When Gb3 accumulates in various organs, it can cause a range of symptoms and health problems.

This article will explore how Fabry disease affects the body.

The Role of Enzymes in Fabry Disease

Fabry disease is caused by a deficiency of an enzyme called alpha-galactosidase A (α-Gal A). This enzyme is responsible for breaking down Gb3 within cells.

When a person has Fabry disease, their body produces little or no α-Gal A, which means Gb3 accumulates in tissues and organs. This can lead to damage and dysfunction in various parts of the body.

Symptoms of Fabry Disease

The symptoms of Fabry disease can vary widely and may depend on the age of onset, the severity of the condition, and which organs are affected. Some of the most common symptoms of Fabry disease include:.

Episodes of pain or burning sensations (known as acroparesthesia), typically in the hands and feet
Clusters of small, dark red spots on the skin (known as angiokeratomas)
Sweating abnormalities
Digestive problems, such as nausea, vomiting, and diarrhea
Hearing loss
Vision problems
Heart problems, such as arrhythmias, valve disease, and heart failure
Kidney problems, such as proteinuria and kidney failure

How Fabry Disease Affects the Skin and Eyes

One of the most visible signs of Fabry disease is the presence of angiokeratomas on the skin. These small, dark red spots are typically found on the trunk, thighs, and buttocks. They are caused by the accumulation of Gb3 in the blood vessels of the skin.

Fabry disease can also affect the eyes. Gb3 accumulation in the blood vessels of the retina can cause vision problems, including blurred vision, and may lead to retinal damage over time.

How Fabry Disease Affects the Nervous System

Fabry disease can affect the nervous system in several ways. The accumulation of Gb3 in the nerves can lead to pain, particularly in the hands and feet.

This pain often takes the form of burning or shooting sensations and may be triggered by heat, exercise, or stress.

Fabry disease can also cause a range of neurological symptoms, including:.

Headaches
Dizziness
Fainting spells
Seizures
Mild cognitive impairment
Depression and anxiety

How Fabry Disease Affects the Heart

The accumulation of Gb3 in the heart can cause a range of cardiac problems in people with Fabry disease. These include:.

Arrhythmias (irregular heartbeats)
Heart valve disease
Left ventricular hypertrophy (enlargement of the heart muscle)
Heart failure

Some of these cardiac problems can be managed with medication or interventions such as surgery or cardiac ablation.

However, people with Fabry disease are at higher risk of cardiovascular events than the general population and require close monitoring by a cardiologist.

How Fabry Disease Affects the Kidneys

Fabry disease can also cause renal problems. In particular, the accumulation of Gb3 in the blood vessels of the kidneys can lead to proteinuria (excessive protein in the urine) and kidney failure.

Some people with Fabry disease may require dialysis or kidney transplantation if their renal function declines significantly.

Regular monitoring of kidney function is essential for people with Fabry disease, as early detection and treatment can slow disease progression.

Diagnosis and Treatment of Fabry Disease

Fabry disease is diagnosed through a combination of clinical evaluation, family history, and genetic testing. Treatment options for Fabry disease focus on alleviating symptoms and slowing disease progression.

Enzyme replacement therapy (ERT) is the mainstay of Fabry disease treatment. ERT involves infusing a synthetic version of the missing α-Gal A enzyme into the bloodstream.

This can reduce Gb3 accumulation and alleviate some of the symptoms of Fabry disease, particularly pain.

Some people with Fabry disease may also benefit from medications that address specific symptoms, such as painkillers, anti-nausea drugs, and anticonvulsants for seizures.

Lifestyle modifications, such as maintaining a healthy diet and exercise routine, can also help manage symptoms of Fabry disease.

The Importance of Genetic Counseling

Given that Fabry disease is caused by a genetic mutation, genetic counseling is a critical component of disease management.

Genetic counseling involves an evaluation of a person’s family history, genetic testing, and education about the inheritance patterns and prognosis of Fabry disease.

Genetic counseling can help inform family planning decisions and empower patients and their families to make informed decisions about their healthcare.

Conclusion

Fabry disease is a rare genetic condition that affects multiple organs and can cause a range of symptoms and health problems. Understanding how Fabry disease affects the body is key to managing the condition effectively.

With appropriate treatment and management, people with Fabry disease can lead fulfilling and rewarding lives.