///UAMS Diagnoses Woman’s 16-Year Illness
UAMS Diagnoses Woman’s 16-Year Illness 2018-05-01T16:20:15+00:00

UAMS Diagnoses Woman’s 16-Year Illness

Karan Smith (right) saw specialists in Arkansas and at the Mayo Clinic before UAMS Mollie Meek, M.D., diagnosed her genetic disease.

After 16 years searching for the cause of her seizures and difficulty breathing, Karan Smith of Fort Smith was referred to UAMS, where a doctor pinpointed her underlying condition: an uncommon genetic disease known as HHT (Hereditary Hemorrhagic Telangiectasia).

Karan’s medical mystery began in 1994 when she passed out at work. The years since have been spent seeing specialists such as neurologists, neuropsychologists and psychiatrists in Arkansas and at the Mayo Clinic in Rochester, Minn. The conclusion was that Karan’s illness was psychological.

“Literally her medical records say that it’s an anxiety disorder or a somatization disorder — that it’s all in her head,” said UAMS Dr. Mollie Meek, an interventional radiologist who diagnosed Karan. “She’s been through the ringer.”

After inquiring about the health of Karan’s parents, children and grandchildren, Dr. Meek learned that many are also exhibiting classic signs of the disease. Karan’s father has survived several internal bleeding episodes and her 13-year-old grandson has also shown symptoms, such as the skin discoloration and nose bleeds, which indicate he has the disease. Dr. Meek said they all need to be evaluated.

“I’m flabbergasted,” said Karan, who brought her 13-year-old grandson for a CT scan and will follow up with genetic testing at UAMS. “No doctors ever mentioned HHT until we saw Dr. Mollie.”

Mollie Meek, M.D., (center) used a minimally invasive procedure to plug malformed blood vessels in Smith’s lungs.

About 1.2 million people worldwide have HHT, according to the HHT Foundation International website: www.hht.org.

Karan was referred by her primary care doctor to UAMS because of abnormal collections of blood vessels (AVMs or arteriovenous malformations) on her right lung. Dr. Meek said the AVMs and Karans symptoms, which include numerous red splotches on her skin, are telltale signs of HHT, so it is unfortunate that it wasn’t diagnosed earlier. Karan apparently never saw an interventional radiologist, Dr. Meek said, because her training includes rare diseases like HHT.

“Anytime an interventional radiologist sees a pulmonary AVM, they should think about HHT,” Dr. Meek said. “The lungs are one of the most common places for HHT to reveal itself.”

A person with HHT has a small number of arteries that link directly with veins. Arteries carry blood pumped from the heart at high pressure throughout the body, and normally the blood is squeezed and filtered through tiny capillaries before returning to the heart in veins. The site where an artery links directly with a vein is typically fragile and will rupture. In addition to occurring on the lung, HHT patients often have AVMs in other vital organs, causing internal bleeding in the brain, stomach, liver, intestines and in the nose.

“When you have a pulmonary AVM, some of the blood bypasses the lung, where it would normally be filtered and receive oxygen to carry to the brain,” Dr. Meek said. “The unfiltered blood lacks oxygen and it carries little tiny pieces of debris and bacteria to the brain and other parts of the body, which can cause strokes or abscesses.”

“For Karan, the pulmonary AVMs were allowing unfiltered blood to flow into the brain, which has caused several mini-strokes. The mini-strokes, in turn, are likely responsible for Smiths recurring seizures,” Dr. Meek said.

Meek treated Smith using a minimally invasive procedure to plug three pulmonary AVMs. The treatment is called coil embolization, and it is performed using a tiny tube, or catheter, that is guided through blood vessels from an entry point in the upper leg. Once at the AVM, a fine coil wire is used to block the misdirected blood flow.

For Karan, the result was immediate. I can breathe a lot better than Ive been able to in years, Smith said. I feel like I can finally take a deep breath.

Karan will need a CT scan of her chest every six months to a year, depending on her symptoms; because additional pulmonary AVMs will develop over time.

She and members of her family are being tested at UAMS genetics clinic to confirm that they have the disease.

Dr. Meek said UAMS has applied with the HHT Foundation International to be recognized as an HHT Center of Excellence. Currently there are 10 HHT Centers of Excellence in the United States. Once designated, UAMS will be one of just three in the South.

An HHT Center of Excellence provides the comprehensive coordination of care necessary for treating patients with HHT. A coordinated team of experts, knowledgeable about HHT, collectively care for the patients seen at the Center, providing patients access to physicians who specialize in all aspects of HHT.

Interventional Radiology at UAMS

To learn more about the personalized care provided by our doctors using state-of-the-art equipment and technology, please visit our medical services section.