Symptoms and Definition of Fabry Syndrome

Fabry's disease typically, but not always, manifests during adolescence. It is typically marked by symptoms including burning hands and feet, although it is not limited to these symptoms.

Sometimes Fabry symptom is difficult to diagnose because it is not uncommon for active teenager to feel pain and burning in their hands and feet due to excessive athletic activity. In these cases, Fabry's Disease can be ruled out if cool water or a cool shower alleviates the burning.

Fabry symptom, also known as Fabry's Disease, is genetic disorder caused by the deficiency of a particular enzyme (lysosomal enzyme alpha-galactosidase). It is a metabolic disorder that can cause a host of other problems in the neurology system, vascular system, skin, heart, kidneys, and autonomic nervous system.

It is a very rare disease in the United States with approximately one known case for every 40,000 .individuals. Most incidents of the disease have been recorded among Caucasians, but African Americans, Latin Americans, Native Americans, Egyptians, and Asians have also reported incidents of the rare Fabry Syndrome.

Because of the metabolic disorder glycolipids are not properly broken down and lipids accumulate in smooth muscle cells and vessel cell. This can cause vessels to alternately expand and contract.

Because Fabry Syndrome, or Fabry's Disease, is so rare, it is often misdiagnosed upon initial examination. When late stage kidney failure begins to occur along with hypertension and possible congestive heart failure Fabry's may be indicated. Because these symptoms are not pronounced when the patient is young Fabry's may not be diagnosed until later in life, despite its general onset between the ages of 20-29.

Other symptoms of Fabry symptom include:

--hypohidrosis - the inability to sweat

--extreme intolerance to heat and cold

--Fever with no other symptoms

--Ocular red spots near the cornea

--Rash

--GI pain and cramping following meals

--Ringing in ears

Causes of burning in the hands and feet, other than Fabry Disease, Fabry Syndrome, include:

--Neuropathy - a degenerative disease of the nerves often associated with diabetes

-- Lyme disease - a disease born by Deer Tick

--Burning Hands Syndrome - associated with spinal cord injury

--Rheumatoid Arthritis

Even if you feel that burning is "normal." Any symptom that persists should be checked by a doctor.

Sources:

Angiokeratoma Corporis Diffusum (Fabry Syndrome), emedicine.medscape.com

Burning Feet and Hands, Webmd.com

Undiagnosed Diseases Community, MedHelp.org