Rare Illness Strikes Latin Americans

By Librada Martinez, La Prensa Hispana, April 27, 2005

Norma Villa was unaware that her daughter had a serious illness until she entered school and a teacher told Norma that her daughter had a “lazy eye.”

Norma immediately made a doctor’s appointment; he ordered an MRI which detected the illness known as “cavernous angioma.”

This illness is the presence of a group of abnormal blood vessels which can be found in the brain, the spinal cord and, with less frequency, in other parts of the body.

Norma’s daughter, now age 19, developed a malformation in the brain stem which has resulted in vision difficulties and balance issues.

Even though patients with this illness can enjoy a normal life, it does present them with challenges. For example, learning disabilities may occur or, as in the case with Norma’s daughter, vision issues make carrying out daily living tasks more challenging, tasks such as driving an automobile.

According to Angioma Alliance, founded only three years ago to help families and patients with this illness, a typical cavernous angioma looks like a raspberry, but its size can vary from microscopic to a few inches in diameter. It is composed of multiple bubbles (caverns) of various sizes, filled with blood and covered with a special layer of cells. These cells are similar to the cells which cover normal blood vessels, but the bubbles of a cavernous angioma leak blood and lack the other cell layers that are present in the walls of a normal blood vessel.

The illness can cause epileptic seizures, stroke-like symptoms, hemorrhages and extreme migraines that can last several days.

“The symptoms appear each time the angioma bleeds and grows,” said Norma who joined the organization to promote information to families and parents of those afflicted with the illness. “Many times we parents do not pay particular attention to the small details which can indicate a serious health problem,” Norma said.

The damages caused by a cavernous angioma are irreversible. Norma’s daughter has vision and balance issues, “surgeries cannot repair the damage,” she said. And, even with surgery, an angioma can re-grow and re-bleed. “That is why it is important for patients to be under a physician’s care and monitor angioma(s) for growth and other changes.”

Surgery is not without risks and they include paralysis, coma or death.

The surgery to remove a cavernous angioma from the brain stem or spinal cord is more risky but angiomas in these areas are also more dangerous if left alone.

Incidence in Latinos

Angioma Alliance states that a cavernous angioma occurs in one out of every 100 or 200 persons. It is estimated that in the United States, about three million individuals are afflicted with this illness.

The symptoms usually appear between 20 and 40 years of age. “It was quite a surprise to learn of my daughter’s diagnosis,” said Norma, “it is very important for parents to be aware of their children’s health.”

When a person has more than one angioma, it is referred to as multiple cavernous angiomas, which is hereditary and common amongst Hispanic families.

The children of parents with multiple lesions have a 50% change of inheriting the illness.

To date, medical science has discovered three genes involved in the hereditary form of the illness. That is, one mutation in any of these three genes can cause a cavernous angioma.

Current Research

Presently, specialists at Barrow Neurological Institute at St. Joseph’s Hospital in Phoenix are conducting research to learn more about this illness. Doctors want to know the factors involved that cause angiomas to bleed and how to reduce the risk of passing on the illness.

Presently, doctors do not know how to remove cavernous angiomas without neurosurgery. The are in search of a less invasive method that will allow treatment of these lesions before they become problematic.

For more information about cavernous angiomas, visit the Angioma Alliance site at www.angiomaalliance.org or email them at info@angiomalliance.org.