written by home doctor team

April is International Fabry’s Awareness Month

Fabry’s is a disease which people suffer from but may not know of it.

The genetic disease, which is found in more men than women, is usually discovered years after the symptoms manifest themselves.

What is Fabry’s disease?

Fabry’s disease occurs when a certain type of fatty substance, globotriaosylceramide (try saying that ten times fast!), cannot be broken down. That’s due to a lack in an enzyme the body produces, called alpha-galactosidase.


Fabry’s disease affects various parts of the body including eyes, kidneys, the heart and the brain – and symptoms can be painful.

The progressive disease usually starts affecting patients who are about 30 to 45 years of age.

Symptoms include:

Dark spots under the skin

Hearing loss

Pain and burning sensations, especially when it comes to exercise or stress

Decreased sweat

Joint pain

Frequent bowel movements

Back pain

Life Expectancy

The common cause of death of people with Fabry’s is heart disease, as it increases the likelihood of heart attacks and strokes.

Life expectancy for Fabry’s sufferers drops to 58 years of age for males and 72 years of age for females. This is significantly less than the Australian average of 82 years old.


After hours doctor Ryan Harvey from Queensland’s House Call Doctor says that with diseases like Fabry’s, patients must be careful to lead a healthy lifestyle.

“This disease is unfortunately hereditary,” Dr Harvey said.

“It significantly impact the sufferer’s ability to be active – so as a result, patients need to be aware of what they eat and how much to reduce the risks of other side effects like obesity.”

Enzyme replacement medication is often used to increase and normalise functions to the heart, kidneys and blood supply to the brain but ultimately a managed, steady and healthy diet is one of the best paths to prevent serious implications of the disease.