Fabry diseases

An Overview

Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.
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.

Types of Fabry disease?

The types of Fabry disease reflect a person’s age when symptoms first appear. Types include:
• Classic type: Symptoms of classic Fabry disease appear during childhood or the teenage years. One hallmark disease symptom — a painful burning sensation in the hands and feet — may be noticeable as early as age two. Symptoms get progressively worse over time.
• Late-onset/atypical type: People with late-onset Fabry disease don’t have symptoms until they’re in their 30s or older. The first indication of a problem may be kidney failure or heart disease.

Causes of Fabry diseases

You get Fabry disease from your parents. It’s passed down through genes.
The problem is that your body can’t make an enzyme called alpha-galactosidase A, which you need to break down fatty substances like oils, waxes and fatty acids. When you have Fabry disease, you either were born without that enzyme or it doesn’t work right.
GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Mutations that decrease but do not eliminate the enzyme’s activity usually cause the milder, late-onset forms of Fabry disease that typically affect only the heart or kidneys.

Symptoms for Fabry diseases

• Pain and burning in your hands and feet that get worse with exercise, fever, hot weather, or when you’re tired.

• Burning or tingling pain in the hands and feet. In males this can occur as early as 2 to 8 years old. In females it occurs later in childhood or adolescence. Episodes of intense pain, which can last from minutes to days, are called “Fabry crises.

• Small, dark red spots usually found between your bellybutton and knees

• Cloudy vision

• Hearing loss

• Skin rash. This reddish-purple rash is slightly raised and occurs between the belly button and the knees. It’s called angiokeratoma.

• Stomach problems. This includes cramps, gas, and diarrhea.

• Ringing in the ears

• Sweating less than normal

• Stomach pain, bowel movements right after eating

• Lack of sweat production. This affects more males than females.

• Abnormal corneas. Blood vessels in the eyes may have a changed appearance, but this doesn’t affect vision.

• General tiredness, dizziness, headache, nausea and heat intolerance. Males may have swelling in their feet and legs.

Diagnosis

• FD can be difficult to diagnose because the symptoms are similar to those of other diseases. Symptoms are often present long before a diagnosis. Many people are not diagnosed until they have an FD crisis.

• Type 1 FD is most often diagnosed by doctors on the basis of the child’s symptoms. In adults, FD is often diagnosed when they’re being tested or treated for heart or kidney problems.

• An FD diagnosis for males can be confirmed by a blood test that measures the amount of the damaged enzyme. For females, this test isn’t sufficient, because the damaged enzyme may seem normal even though some organs are damaged.

• FD can cause a wide variety of symptoms. If you have FD, you’ll probably see specialists for some of these symptoms. In general, treatment will aim at managing symptoms, relieving pain, and preventing further damage.

• Once you’ve been diagnosed with FD, it’s important to regularly see your doctor to monitor your symptoms. People with FD are advised not to smoke.

Treatment

Enzyme-replacement therapy (ERT)
ERT is now a first-line treatment recommended for all people with FD. Agalsidase beta (Fabrazyme) has been used since 2003, when it was approved by the U.S. Food and Drug Administration. It’s given intravenously, or through an IV.
Pain management
Pain management can involve avoiding activities that might bring on symptoms, such as strenuous exercise or temperature changes. Your doctor may also prescribe medications such as diphenylhydantoin (Dilantin) or carbamazapine (Tegretol). These are taken daily for pain reduction and prevention of FD crises.

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