Genetic Disease Causes Life-Threatening Tumors

A 20-year-old Oakland County woman with von Hippel-Lindau wants to talk about the little known disease in hopes of reaching people who have it, but haven't been diagnosed.

People like her are telling their stories during a national VHL Alliance support group campaign, "Early Detection Empowers Us," spearheaded by 27 U.S. and 14 worldwide chapters.

VHL is a genetic condition involving the abnormal growth of blood vessels forming tumors mostly in the brain and spinal cord, retina, adrenal gland, kidneys, some reproductive organs and the pancreas.

"Diagnosing the disease is critically important in order to preserve vision, since laser surgery is highly effective in treating the retinal abnormalities," said Dr. Francis Collins, director of the National Genome Research Institute at the National Institutes of Health.

Close monitoring of the risks of kidney cancer is also important, since early detection of these tumors can be lifesaving.

There are also many lifestyle concerns, such as whether or not to have children since there is a 50 percent chance that a child of an affected person will have the condition.

The Oakland County woman, we'll call her Jan, didn't want her name released for fear that it would jeopardize her job and future promotions.

"My health would easily be threatened if I wasn't able to receive all of the scans and doctor appointments I need, and I rely on my health insurance to be able to afford it all," Jan said. "I have no outward signs or symptoms."

She is among approximately one in 32,000 people in every ethnic group worldwide with VHL, which is about the same prevalence as muscular dystrophy. Unfortunately, VHL patients don't have a celebrity sponsor, like Jerry Lewis, fighting for their cause and raising millions of dollars for research. Breakthroughs, however, have been made.

"Advances in medical genetics, imaging, laser treatments, and surgical procedures now make it possible for many people with VHL to lead relatively normal lives," Collins said. "With the successful completion of the Human Genome Project last year, there exists the possibility of developing new and more effective therapies in the future, based on a bull molecular understanding of how the VHL gene works and what happens when it carries a misspelling."

Researchers believe a cure is attainable within 30 years, according to VHL Alliance brochures.

Jan learned she had VHL when she was 10. A retinal eye exam revealed a tumor and additional scans found cysts in her pancreas. Doctors also found a non-VHL brain tumor that probably wouldn't have been detected as early as it was if they hadn't been looking for VHL tumors.

"Every part of my body that could be impacted by VHL is scanned or examined yearly," Jan said. "Tumors are removed early before I develop any symptoms."

Jan has had many laser treatments for retinal hemangiomas in both eyes and lesions are treated immediately.

Patients should consider the possibility of having VHL if more than one person in their family has had kidney cancer, brain tumors or eye tumors.

"That could be a tipoff that there may be something going on in the family and if so the main thing would be to raise that possibility," said Dr. James Montie, University of Michigan Medical Centers chairman of the department or urology and Valassis Professor of Urologic Oncology. "It's rare enough that it's not something you would think our of the blue."

If VHL is suspected, doctors typically order computed tomography (CT) scans or magnetic resonance imaging (MRI). Ultrasound may be used to screen kidneys, testes, and pelvics.

"Most importantly, find a good doctor, who is willing to help coordinate with other specialists to make sure you receive exams for all potentially affected areas," Jan said. "Also, finding tumors early and educating yourself about VHL, are the keys to managing this disease successfully."

In some cases, early detection has saved a patient from having major organs removed unnecessarily. In other cases, it's mad the difference between life and death.

"The disease can be different in every patient even in the same family," said Fran Mott, VHL Alliance Michigan Chapter chairperson, a VHL patient and VHL advocate.

Every type of tumor VHL get can be found in the general population and may not be VHL, she added.

"That's what makes this disease so difficult," Mott said.

Finding a doctor who is able to recognize VHL tumors is "enormously important," said Dr. David Ginsburg, University of Michigan professor of internal medicine and medical genetics.

"Being their own advocate is key," Ginsburg added. "If you have doubts, get another opinion. Good doctors don't mind when patients want to get another opinion."

He also stressed the importance of using support groups like VHL Alliance to be in contact with and glean insights from people who deal with the disease daily.

Like Deborah Grace Coleman of Canton, who fought for VHL awareness until her death two years ago.

She and her husband Steven learned she had VHL after reading a story May 31, 1998, in the Health section of the Observer & Eccentric Newspapers.

Six months after the couple was married on Valentine's Day 1976, Deborah had her first brain tumor surgery. She was 19 years old. Before she died she had 10 brain tumor surgeries.

After reading the story, she inquired about VHL, learned she had the condition, and went to the National Institutes of Health in Bethesda, Maryland, for tests.

One of Deborah's ministries in "our Christian life," Coleman said, was to comfort people who were awaiting brain surgery.

Steven, a pilot for American Eagle Airlines, has taken on the crusade.

"VHL needs to be annunciated to the world," he said.

"The beauty is that they have different surgical techniques and they're working on the magic bullet, pharmaceutically."

For information on VHL, call the national VHL Alliance at (800) 767-4VHL, or Mott at (248-887-8617. Visit the VHL web site at www.vhl.org.

VHL Symptoms not always Obvious

The symptoms may be subtle to begin with or severe. Many other health problems can have the same symptoms, making it hard to identify VHL from symptoms alone.

Symptoms can include, but are not limited to:

Larger kidney tumors -- flank pain, flank mass, blood in urine.

Adrenal gland tumors and paragangliomas -- hypertensive crisis; episodic anxiety; panic attacks, rage attacks or sweating; intermittent or sustained hypertension (high or spiking blood pressure); and headaches and palpitations.

Brain and spinal tumors -- headache (especially unexplained headache that stays in one place for more than a day); nausea and/or vomiting; focal pain; motor or coordination problems; difficulty walking; wide-based gait; positional vertigo; sensory loss; numbness; tingling or weakness in arms or legs; eye shaking and incontinence.

Retinal tumors in the eye -- pain; change in the quality or field of vision; glaucoma; retinal detachment and blindness.

Endolymphatic sac tumors (may be called middle ear tumors) -- part or complete hearing loss.

Pancreas tumors and cysts -- usually no symptoms.