Quick Answer: What Is Fabry’S Disease?

Do I have Fabry disease?

Symptoms of Fabry disease may include episodes of pain, especially in the hands and feet, clusters of small, dark red spots on the skin called angiokeratomas, a decreased ability to sweat (hypohidrosis), cloudiness of the front part of the eye (corneal opacity), and hearing loss ..

How does Fabry disease affect the kidneys?

When alpha GAL is missing or present in low amounts, fat builds up in cells of the blood vessels and tissues of the kidneys, heart, skin and brain. Over time, this can lead to life-threatening problems including kidney failure, heart attacks and strokes.

What does Fabry disease do to a person?

When you have Fabry disease, a certain type of fatty substance builds up in the cells of your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.

Is Fabry disease curable?

There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacologic chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals.

How do you test for Fabry disease?

A GLA gene test is performed to diagnose Fabry disease. Males with Fabry disease can usually be diagnosed via an enzyme assay test. Males with classic Fabry disease essentially have no alpha-galactosidase A enzyme (less than 1% of normal).

What kind of doctor treats Fabry disease?

A neurologist treats diseases of the nervous system — the brain and spinal cord. Fabry disease can damage blood vessels in the brain and raise your chances of a stroke or other nervous system problems. Neurologists treat Fabry disease symptoms like: Weakness or lack of movement (paralysis)

Is there a cure coming soon for Fabry disease?

There is currently no cure for Fabry disease. However, there are approved medications that work by restoring the activity of alpha-galactosidase A enzyme, preventing organ damage and improving patients’ quality of life.

What does Fabry disease look like?

Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness or streaks in the front part of the eye (corneal opacity or corneal …

How does Fabry disease affect the brain?

Cerebral manifestations can occur in Fabry disease, resulting in an increase in disease burden and lower quality of life (Crutchfield et al., 1998). The risk of stroke is greatly increased, especially at younger ages than the general population (Sims, Politei, Banikazemi, & Lee, 2009).

Is Fabry disease more common in males or females?

Fabry affects mostly males though rarely females may inherit the disease. Fabry disease is a progressive disorder and symptoms that affect the kidneys, heart, or brain most often occur when patients are age 30 to 45 years.

How does Fabry disease affect the heart?

Cardiac involvement is a frequent finding in Fabry disease, both in hemizygous men and heterozygous women. Cardiac hypertrophy associated with depressed contractility and diastolic filling impairment is common, and coronary insufficiency, AV conduction disturbances, arrhythmias and valvular involvement may be present.

Is Fabry disease dominant or recessive?

Fabry disease is an X-linked disorder, neither recessive nor dominant (25).

What are the signs and symptoms of Fabry disease?

Fabry disease symptoms include:Numbness, tingling, burning or pain in the hands or feet.Extreme pain during physical activity.Heat or cold intolerance.Abnormal opacity of the eye (cornea), which does not change someone’s vision.Dizziness.Flu-like symptoms, including fatigue, fever and body aches.More items…•Sep 14, 2020

What is the life expectancy of someone with Fabry disease?

The life expectancy of males with Fabry disease was 58.2 years, compared with 74.7 years in the general population of the United States. The life expectancy of females with Fabry disease was 75.4 years, compared with 80.0 years in the United States general population.

Does Fabry disease cause weight gain?

A depressed person may show either an increased or a decreased appetite, both of which can be harmful given that Fabry disease patients already are susceptible to gastrointestinal symptoms. A weight loss or gain of more than 5% of body weight in a month could indicate depression.

What age is Fabry disease diagnosed?

The median age at diagnosis of Fabry disease was 28.6 years in a recent study from Australia [3]. Similarly, the median age at diagnosis was about 28 years among 688 patients recorded in FOS – the Fabry Outcome Survey – although the first symptoms occurred some 16 years earlier (Table 1).

How common is Fabry disease?

Fabry disease is a rare pan-ethnic disorder, meaning that it occurs in all racial and ethnic populations affecting males and females. It is estimated that type 1 classic Fabry disease affects approximately one in 40,000 males.

Is Fabry disease an autoimmune disease?

Fabry disease presenting as autoimmune rheumatic disease.