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Rare genetic vascular disorder strikes local family

Rare genetic vascular disorder strikes local family


For most of his life, Mark Schnuck has had nosebleeds. Some have been minor, others severe, but they have just been something the Pleasant Prairie man says he has come to live with.

Two years ago, when Schnuck got a pimple on his face, he didn’t worry about it too much either. But when the spot got larger and redder, he decided to have it removed.

A visit to his dermatologist, however, revealed the spot not to be a minor skin eruption, but the sign of a rare genetic disease which affects the capillaries, veins and arteries of the body.

In an interview from his Pleasant Prairie home, Schnuck, 59, described his life-changing visit to his dermatologist.

“It was like a blood red pimple. I went to a dermatologist and said, ‘I’ve got this pimple and I want it taken off.’ He said, ‘Stick out your tongue,’ and then said, ‘Oh, you’ve got a couple on your tongue — I don’t think it’s just a pimple.’ “

Schnuck says he hadn’t noticed the dots on his tongue but then the doctor pointed out similar “little red marks” on his hands and ears and in his nose. Connecting the dots with the nosebleeds, the dermatologist told Schnuck he had a rare disease known as Hereditary Hemorrhagic Telangiectasia, or HHT.

Affects family members

It was a revelation that has reverberated throughout Schnuck’s immediate family.

Because of the genetic component of HHT, Schnuck’s family members (with the exception of his wife, Ann) were tested for the disease by specialists at the HHT Center for Excellence at Froedtert & the Medical College of Wisconsin, Milwaukee.

It was found that Schnuck’s daughters, Kelly Scruggs and Heather Young, and Scrugg’s three daughters are all affected by this disease. The genetic test results of Young’s three children are still pending.

Most of Schnuck’s six grandchildren have experienced nosebleeds; three have also been clinically confirmed for other HHT diagnostic criteria as well.

Only Schnuck’s son, Ryan, 30, does not have HHT, meaning that his children are also in the clear for not having the disease.

Abnormal blood vessels

HHT is a condition in which some of the body’s blood vessels have developed abnormally; they may be tangles that are fragile and susceptible to rupture and bleeding.

Some of the bleeding, like nosebleeds or pimples, are visible; other bleeding may occur internally and unknown until the occurrence of a catastrophic event like lung or brain hemorrhage, or strokes.

The condition is hard to identify, say experts.

“HHT is a tricky disorder to diagnose because people don’t all present in the same way,” said Dr. Jake Decker, director of the Milwaukee HHT Center for Excellence.

Can bleed in lungs, brain

Decker noted that for some 90 percent of patients, the disease manifests as nosebleeds by the time patients are in their teens. Most also get red spots known as telangiectasia (pronounced tuh-lang-jee-uck-tay-zia).

“The severity of the nosebleeds can range from once or twice a month to multiple times a day, causing low iron and the need for blood transfusions,” Decker said.

Decker explained that telangiectasia are “a bundle of blood vessels that didn’t form and can bleed. If they bleed in the lung it can be a problem; if one ruptures in the brain it can cause stroke or seizures.”

Schnuck said he has had spots on his lip that started bleeding profusely. “When they are located on a main artery they start bleeding and just don’t stop.”

Gaps in lungs

Other HHT patients also have “silent symptoms,” known as multiple arteriovenous malformations, or AVMs. These are gaps between arteries in the lungs that put patients at risk for strokes, hemorrhaging or brain abscesses.

“About 40 percent of HHT patients develop AVMs in the lungs; 10 percent in their brain,” Decker said.

To determine how extensive HHT was in his body, Schnuck’s tests included a brain scan, a brain MRI and a bubble echocardiogram.

“They didn’t find anything on my brain; that’s what they worry about with kids (who test positive for HHT),” Schnuck said.

“But I did fail the bubble,” he said, meaning the bubble echocardiogram test, which revealed he had a hole in his left lung.

“This is actually a gap where the capillaries should be,” said Schnuck’s daughter, Kelly Scruggs, who is also a nurse.

This lack of capillaries is not a problem for the lungs themselves, but is cause for concern because the gaps may allow bacteria to pass through to the brain and cause fatal strokes.

Although Schnuck’s lung AMV is not a big concern at this time, the hole will be monitored for changes every five years.

Surgery for granddaughter

Schnuck’s granddaughter, Brittany Gorman, 13, had a more imminently serious situation. Her bubble echocardiogram revealed several lung AVMs and an MRI of her brain turned up “areas of concern.”

On June 18 she underwent a six-hour surgery that corrected the AVM and an angiogram of her brain that ruled out the cause for concern.

Prior to the surgery, Brittany, who runs track at Bullen Middle School, said she sometimes felt pain after running. “But now I can breathe much better,” she said.

HHT has been on the scientific radar since the late 1800s, when it was first documented by Drs. Osler, Weber and Rendu, for whom the disorder was originally named.

Research into the hereditary disease did not take off until 1991 with the founding of the HHT Foundation. Renamed Cure HHT in 2014, the organization works in tandem with 25 HHT Centers for Excellence around the country.

“Cure HHT revolutionized research, awareness, patient advocacy and a standardized approach to treatment and diagnosis,” Decker said.

Raising awareness

As the parent of three children affected by the disease, Scruggs is a vocal advocate for raising awareness about HHT.

“We’re raising HHT awareness because even the kids’ doctors don’t know about it. It makes you wonder how many times they’ve looked into our noses and we’ve had these telangiectasia and don’t say anything about the red dots.”

“A lot of physicians are not aware of the disease or poised to make the diagnosis,” agreed Decker. “It’s nuanced and difficult to recognize.”

“I’m gathering information packets from Cure HHT to hand out to different providers,” Scruggs said. “Do you know how frustrating it is to (explain HHT) over and over again when you go for an appointment?”

So far she has shared HHT literature with local hospital emergency departments and the nurses at her children’s schools.

The entire family is also active with Cure HHT as well.

In order to support Worldwide HHT Awareness Day, which was June 23, the family ordered special shirts from the Cure HHT Foundation.

Scruggs’ and Young’s daughters also painted rocks with the foundation’s red and blue colors and logo, distributing them and posting photos of them on the Kenosha Rocks Facebook page.

“We do fundraisers (for Cure HHT),” Scruggs said. “I did one on Facebook during June (HHT Awareness Month) because the money goes directly to research and conferences throughout the year.”

“Currently there is a lot of research going on,” Decker said. “Hopefully we’ll be able to offer a new drug trial next fall.”

“There is no cure, but we can manage symptoms and prevent some of its devastating consequences,” he said.


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