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Fabry's Disease
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Familial Hemangioma

INFORMATION ON FAMILIAL HEMANGIOMA
Familial hemangioma are groups of abnormal blood vessels found in the brain, spinal cord, and, not often, in other areas of the body. There are many names for this condition:

• Cavernous angioma
• Cavernous hemangioma
• Cerebral cavernous malformation (ccm)
• Cavernoma

A typical familial hemangioma looks somewhat like a raspberry, but it may vary in size from microscopic to inches in diameter. It is made of multiple little bubbles (caverns) of various sizes, filled with blood and lined by a special layer of cells (endothelium). These cells are similar to those that line normal blood vessels, but the bubble-like structures of a familial hemangioma are permeable and lack the other layers of normal blood vessel wall. A cavernous angioma can cause seizures, stroke symptoms, blood loss, and headache.
CAUSES OF FAMILIAL HEMANGIOMA
Familial hemangiomas are diagnosed most often when they become indicative. Although angiomas have been known since the 1930’s, they have not been reliably diagnosed until the introduction of the mri (magnetic resonance imaging) in the 1980’s. Previously, the illness may have been misdiagnosed as multiple sclerosis or as a seizure disorder with no known cause. The cavernous angiomas were not visible on angiogram and were only inconsistently visible on cat scans. An mri scan, with and without contrast and with gradient echo sequences, read by an experienced physician remains the best means of diagnosing this illness. The mri scan may need to be repetitive to assess change in the size of a cavernous angioma, recent bleeding, or the appearance of new lesions.
SYMPTOMS OF FAMILIAL HEMANGIOMA
A familial hemangioma may have no signs. When symptoms are present, they often depend on the location of the angioma and on the strength of the angioma walls. Familial hemangioma can cause seizures. A person who endures from seizures is said to have epilepsy. There are many types of seizure ranging from mild absence seizures to dramatic tonic-clonic seizures. Seizures tend to get worse with age and frequency. Most cases of epilepsy are well controlled with medications. The type of seizure a person experiences depends, in part, on the location of the cavernous angioma. If a person has seizures and more than one cavernous angioma, it may be difficult to pinpoint which familial hemangioma is the cause of the seizures.
Familial hemangioma can cause neurological deficits such as weaknesses in arms or legs, vision problems, balance problems, or memory and attention problems. As with seizure, the type of shortage is connected with which part of the brain or spinal cord the familial hemangioma affects. Symptoms may come and go as the familial hemangioma changes in size with bleeding and reabsorption of blood.
TREATMENT OF FAMILIAL HEMANGIOMA
Most familial hemangiomas are observed for alter in appearance, recent bleeding or clinical symptoms. Medications are available to treat seizures and headaches caused by familial hemangioma. Surgery is advocated for familial hemangioma with recent hemorrhage, those which are expanding in size and in some cases, those which are causing seizures. Radio surgery, by gamma knife, linear accelerator or new shaped beam techniques, is a controversial treatment that has been used on cavernous angiomas too risky to reach through traditional surgery.

 

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