Fabry disease is a rare genetic condition that affects the body’s ability to break down a certain type of fat called globotriaosylceramide (Gb3).

This leads to the buildup of this fat in the body’s cells, resulting in a range of symptoms that can vary in severity from person to person. While some of the symptoms of Fabry disease are well known, others are less common and can be more difficult to diagnose. Here are some of the uncommon symptoms of Fabry disease that you should be aware of:.

Unexplained Pain

One of the most common symptoms of Fabry disease is pain, which usually affects the hands and feet. However, some people with Fabry disease experience pain in other parts of the body, such as the back, hips, and abdomen.

This pain is often chronic and difficult to manage, and it can be a major source of disability for people with the condition.

Angiokeratomas

Angiokeratomas are small, dark red or purple raised spots that appear on the skin. They can be a sign of Fabry disease, but they are not always present.

Angiokeratomas can occur anywhere on the body, but they are most commonly found on the legs, groin, and buttocks. They are usually painless, but they can bleed if they are scratched or irritated.

Eye Problems

Fabry disease can cause a range of eye problems, including corneal opacities, cataracts, and glaucoma. These conditions can lead to vision loss and other complications, so it is important to have regular eye exams if you have Fabry disease.

Kidney Problems

People with Fabry disease are at increased risk of developing kidney problems, including kidney failure. This is because the buildup of Gb3 in the kidneys can damage the cells and tissues, leading to chronic kidney disease over time.

Symptoms of kidney problems can include swelling of the legs and feet, high blood pressure, and changes in urine output.

Heart Problems

Fabry disease can also affect the heart, leading to a range of problems such as arrhythmias, valve disease, and cardiomyopathy.

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Some people with Fabry disease may also experience chest pain or shortness of breath, especially when they are exercising or under stress.

Stroke

People with Fabry disease are at increased risk of stroke, particularly if they have other risk factors such as high blood pressure or smoking.

Symptoms of stroke can include sudden weakness or numbness on one side of the body, difficulty speaking or understanding speech, and blurred or double vision.

Depression and Anxiety

Living with a chronic condition like Fabry disease can be emotionally challenging, and many people with the condition experience depression and anxiety.

These mental health issues can make it difficult to cope with the physical symptoms of the disease and can affect a person’s overall quality of life.

Hearing Loss

Some people with Fabry disease may experience hearing loss, particularly in the high-frequency range. This can make it difficult to hear certain sounds or voices, and it can affect a person’s ability to communicate effectively.

Gastrointestinal Problems

Fabry disease can cause a range of gastrointestinal problems, including abdominal pain, diarrhea, and constipation.

These symptoms can be caused by the buildup of Gb3 in the cells of the digestive system, which can lead to inflammation and damage over time.

Joint Problems

Joint pain and stiffness are common symptoms of Fabry disease, but some people with the condition may also experience more severe joint problems such as arthritis.

This can make it difficult to move and perform daily activities, and it can also lead to deformities over time.