Fabry disease is the condition which is caused by excess of accumulation of fatty substance in the blood vessel. It is an inherited disorder caused by deficiency in the enzyme by name alpha galactosidase A. Individuals with fabry disase will not have this enzyme which is responsible for breaking up of globotriaosylceramide. During the routine function of metabolism, many enzymes are involved for producing and recycling various compounds. Globotriaosylceramide is a compound formed by the combination of three sugars which will be broken down into simpler substances during metabolism. But in people with fabry disease, due to the missing enzyme this sugar compound will not get broken; instead gets accumulated in the blood vessels throughout the body causing serious defect in vital organs like heart and kidney.
Due to the abnormal accumulation of sugar compound this disease is also called as “storage disorder”. When the blood vessel gets blocked with this compound the walls of blood vessels get narrowed resulting in decreased blood flow. Due to reduced blood flow there will not be proper nourishment of the tissues affecting blood vessels of the kidneys, heart and brain.
Causes :
Fabry disease is in inherited disorder. The defective gene is present by birth. Normally female child will inherit one X chromosome from her mother and one from her father. In case of male child it receives one X chromosome from his mother and Y chromosome from father. But in children with fabry disease, it inherits the defective X chromosome (mostly) from mother. In case the father has the defective gene then male children born to him will not inherit any defective gene and all female children born to him will have fabry disease because of defective chromosome. The gene that is defective is called GLA gene which becomes defective during mutation. It leads to the accumulation of sugar compound in the blood vessels causing fabry disease.
Symptoms :
The symptoms vary widely with male and female children. In males the symptoms will appear in early childhood in the form of burning sensation and pain in hands and feet. It will also cause dark skin rashes on the lower part of the body. The pain and burning sensation will progressively increase while doing exercise or having fever or during stressful situations. The disease will progress causing kidney or heart diseases when the person reaches 35-40 years.
In many cases of males kidney will first get affected followed by heart problem like mitral valve prolapsed. In rare cases, they may get stroke or heart attack, depending on the intensity of fat accumulation in the blood vessels. For some males there will be symptoms like irritable bowel syndrome, joint pain, pain the abdomen and ringing sound in the ears.
For females most of them inheriting fabry disease genes will not show any signs of the disease till they reach middle age. It is because the defective X chromosome becomes inactive and the other (normal) X chromosome will manage all functions. Some females will have corneal dystrophy. In rare cases, females with this disease will have kidney disease and neurological complications. Some other symptoms present in fabry disease females are anhydrosis, angiokeratomas and gastro intestinal problems. Most of them will get conjunctiva or retina problems owing to the disease.