Fabry’s Disease or Fabry Disease is a rare genetic disorder that affects 1 in 40,000-120,000 live births. This disease also known as Fabry Disease results when there is an excess build up of a certain kind of fat in the body cells called globotriaosylceramide. A mutation in the GLA genes can result in Fabry Disease.
The main function of this particular gene is that it instructs an enzyme which is active in the lysosomes which are small organelles present in our cell. Lysosome is known as the refining centres of the cells. The enzyme that we talked about is responsible for breaking down globotriaosylceramide. Since the fat is not broken down, it builds up in the entire body and affects the normal functioning of the cell. This disease though mostly affect the males, it can affect the females as well. Symptoms of Fabry’s disease are the following.
Symptoms Of Fabry’s Disease
Acroparathesia is one of the most common symptoms of Fabry’s disease and this symptom can be seen in the childhood only. The individuals may experience localized pain or full body pain that results from the damage of pain transmitting nerve or the peripheral nerves. This pain can get worse with stress, illness, exercise and even with variation in temperature. There can pain in the GI tract as well due to obstruction of blood flow because of accumulation of lipids.
Another common symptom of Fabry’s disease is the outbreak of rashes in the skin which are not painful. This condition is known as angiokeratoma. These rashes mostly appear on the thighs, around the navel, buttocks and the groin.
These rashes are red in appearance and are tiny and painless. These rashes can also appear in other parts of the body like lips, hands, tongues and toes. There can also be lack of sweating, a condition known as Anhidrosis or excessive sweating also known as hyperhidrosis.
Heart And Kidney Troubles
Formation of foamy urine is also seen in patients suffering from Fabry’s disease. The kidney cells become weak and lose their ability to filter the blood leading to excess protein in the urine or foamy urine, a condition known as proteinuria. Complete kidney failure can occur in the last stages which can even lead to death. Cardiomyopathy and hypertension are some of the cardiac manifestation. This happens due to the accumulation of glycolipids in the heart cells. Heart condition gets worse with age.
Ears And Eyes Impairement
Loss of hearing to some degree suddenly or over a certain span of time is also one of the symptoms of this disease. Tinnitus or ringing in the ears can also be experienced by such individuals.
Cornea verticillata is a common symptom. The surface of the eye gets cloudy but the vision is not affected. This is one of the sure symptoms of this disease.
Other Health Disorders
Fatigue, brain stroke, nausea, diarrhoea, abdominal cramps etc are few of the other symptoms of Fabry’s disease. Chemical imbalance in the body, inability of weight gain, extreme burning sensation or neuropathy can also be experienced by the person suffering from this rare genetic disorder. The presence of excess Gb3 disrupts the blood flow to the brain that can lead to stroke like symptoms.