dna_abstract

Fabry is a rare disease and is therefore not well-known. As a result, patients may experience depression and feelings of isolation. The feeling of being overwhelmed by new and frightening information about the state of your health can add to this. The knowledge that this is an inherited disease may also lead to feelings of guilt about passing on the disease to the next generation. Remember that you are not alone.

The CFA offers support to newly diagnosed Fabry patients as well as those with a long history of living with the disease.

 

 

 

PAIN & FATIGUE

Fabry pain is usually experienced in two ways. The first is constant pain in the hands and feet called acroparesthesia. This pain can be intermittent or experienced on a daily basis. The second is a sharp pain throughout the body and is usually referred to as a “Fabry Crisis.” This type of pain is most likely caused by Gb3 build up in the nervous system. These episodes can be brought on by weather changes such as extreme humidity or high temperatures, as well as stress and fatigue.

HEART

The accumulation of Gb3 in the heart will thicken the heart wall over time and cause heart and circulatory issues such as high blood pressure, mitral valve prolapse, enlarged heart, heart attacks, heart failure, arrhythmia and stroke. The first signs of heart problems may be irregular heartbeat or racing, with the risks of more severe problems increasing with age.

KIDNEYS

Gb3 accumulation in the kidneys over time can lead to reduced kidney function and finally, kidney failure. The first sign of kidney damage is protein in the urine and this can be easily detected with a urine sample. Gb3 prevents the kidney from filtering the waste products from the blood stream and may lead to requiring dialysis or kidney transplant.

IMPAIRED ABILITY TO SWEAT

Gb3 accumulates in the sweat glands causing most Fabry patients to sweat very little, or not at all. This accumulation can cause fever like symptoms and occurs as a result of the body overheating. As a result of impaired sweating, Fabry patients may become quickly overheated during mild exercise or strenuous tasks.

SKIN RASH

Patients with Fabry disease may also develop a spotted rash that is usually found between the belly button and knees. This rash, known as angiokeratomas, is the most visible sign of Fabry. It is a result of Gb3 accumulation in blood vessels.

HEARING

Some Fabry patients experience tinnitus, or a ringing in the ears, as well as hearing loss. Fabry patients should be monitored by an audiologist. Gb3 accumulation in the inner ear may also be responsible for the feelings of vertigo and balance problems experienced by many Fabry patients.

CORNEAL OPACITY

A common symptom of Fabry disease is the development of hazy or opaque cornea in the eye. Fortunately, this does not affect eyesight and is of little concern.

GASTROINTESTINAL PROBLEMS

Many Fabry patients experience pain, diarrhea, nausea or bloating after eating.

 

NEUROLOGICAL

Gb3 accumulates in the small blood vessels in the brain and reports of headaches and vertigo are common. Fabry disease is also thought to increase the risk of TIAs (transient ischemic attacks) or stroke.

Other symptoms associated with Fabry disease can include chronic bronchitis and shortness of breath, swelling of the legs, osteoporosis, growth retardation and delayed puberty. It is important to note that the symptoms of the disease are variable, no two patients will be affected in precisely the same way.

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