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.
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.
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.
It is difficult to diagnose fabry disease since the symptoms are often misunderstood for other diseases. The disease can be identified by genetic testing methods for confirming the presence of defective genes.
Managing fabry disease depends on controlling the symptoms of cardiovascular diseases and kidney related problems. Symptoms vary from one person to another and hence individualized treatment has to be given. There is no cure for this disease but the symptoms can be treated. It involves surgery, medications and therapies for many people affected with this disease. It is essential to manage the symptoms first.
The following treatments are effective in controlling the various symptoms.
Pain Management :
It is usually the first sign of fabry disease. The intensity of pain varies from moderate to severe. Normal pain relieving pills are not effective in managing burning pain of this disease. Your doctor will select appropriate pain relieving medications and you need to use them for long term along with managing the side effects. Further it would be better if you could make certain changes in your lifestyle for reducing the pain.
It is the skin rashes that develop in most of the people with fabry disease. It can be itchy and painful and can cause discomfort. In rare cases, the rashes may start bleeding. Hence angiokeratomas can be removed using laser therapy or curettage depending on the size and occurrence of blisters or rash.
Other Symptoms :
There can be gastrointestinal problems in many children with fabry disease. Nausea, vomiting and diarrhea are some of the common problems faced by them. Medications are prescribed for controlling the above symptoms and the affected children will have to take frequent short meals to minimize the bowel syndrome.
Once the person is detected with fabry disease, his health should be continuously monitored with specific emphasis on kidneys. To avoid kidney damage and infection, evaluation of the condition of the kidneys should be done. Further he should be on low sodium diet and low protein to avoid any further damage to the kidney. Depending on the intensity of the damage caused to the kidney, dialysis to be done frequently. In case of severe impairment of kidney function, kidney transplantation has to be done.
Heart problems are varied in individuals suffering from fabry disease. Drugs are prescribed for managing regular heart function and to control symptoms like shortness of breath. In case the drugs are not responsive surgery has to be done for repairing the heart. For some people pacemaker is implanted to regulate the heartbeat. Routine heart checkup is absolutely necessary for patients with this disorder.
Several kinds of neurological problems can develop due to this dreadful disease. Ischemia or stroke can occur if blood supply is cut off temporarily to the brain. When a blood vessel collapses or bursts inside the brain, it will cause hemorrhagic stroke. To avoid such problems, suitable medications are prescribed for preventing blood clots and internal bleeding. Hearing related problems can occur for some individuals which could be managed using hearing device.