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At what age is Fabry disease usually diagnosed?

Classic type: Symptoms of classic Fabry disease appear during childhood or the teenage years. One common disease symptom a painful burning sensation in your hands and feet may be noticeable as early as age 2.

What are the clinical manifestations of Fabry disease in children data from the Fabry Outcome Survey?

Tinnitus, vertigo, fatigue and angiokeratoma were present in over 40% of patients. Symptoms were noted in early childhood and occurred with similar frequency in boys and girls, although the onset of symptoms was 2-5 y later in girls than in boys.

What part of the body does Fabry disease affect?

Fabry disease also involves potentially life-threatening complications such as progressive kidney failure, heart failure, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and typically involve only the heart, kidneys, or blood vessels in the brain.

What happens if Fabry disease is left untreated?

If left untreated, Fabry disease can lead to kidney failure and other serious health problems. What is Fabry Disease? Fabry disease is a rare, genetic disease found in approximately 1 out of 117,000 people.

What does Fabry pain feel like?

Pain, tingling, and burning in hands and feet Some people experience this type of pain every day, while others experience it less often. Neuropathic pain is the most common symptom of Fabry disease and is often the first symptom that brings children and adolescents to their pediatricians.

What is the life expectancy of someone with Fabry disease?

Published data from the Fabry registry indicates that male Fabry disease patients live an average of about 58 years, compared to about 75 years for men in the general population in the U.S. For women with Fabry disease, the average life expectancy is around 75 years compared to 80 years for women in the U.S. general

What is the average age of diagnosis of Fabry disease?

The average age of symptom onset is 9 years for males and 13 years for females, yet the age of diagnosis is 23 and 32 years, respectively. Life expectancy is reduced by 17 years in affected males and 5 years in affected females.

What is the Fabry outcome survey?

FOS is a disease registry sponsored by Takeda that collects information on patients with Fabry disease across the world. Information on symptoms, disease progression and treatment has been collected since the first patients joined FOS in 2001, and there are now over 4000 patients enrolled.

Fabry Registry Annual Report 2011 - fabry-2025

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