Genetic disease leads to mysterious swelling

Often-misdiagnosed condition appears to be allergic reaction, but isn't

By Kirstin O’Connor - Reporter

(KPRC)---Genetics, hormones or stress imagine if just about everything inside your own body was a potential threat to your health.

"The windpipe can swell shut and then you can't breathe," Linda Miller explained.

It sounds like an allergic reaction, something you think could be treated quickly, but it’s very different for patients like Miller.

[WEB EXTRA: Hereditary Angioedema AssociationHAE Attack TriggersHAE SymptomsTypes of HAE]

"We can show up to the emergency room with the same symptoms and we get the same medication, and it doesn't touch us. I mean, it doesn't make a bit of difference," she said.

That's because Miller is not allergic to anything. Her kind of swelling is completely random.

"Dental procedures can precipitate an attack, a trauma and sports or accidents can trigger it; most cases we don't have a specific trigger that we can identify," said Dr. David Huston, associate dean at Texas A&M College of Medicine's Houston campus.

Huston is an expert on hereditary angioedema, or HAE. He said the illness is genetic and caused by a lack of protein in blood.

"The consequence of having insufficient amounts leads to a situation where you can get edema, swelling, that can occur anywhere on the skin, on the mucous membranes, in the gut," Huston said.

"It's about as big as it can get. I mean, as big as the skin can stretch, because the fluid just doesn't stop pouring in," Miller explained. "When it occurs in the stomach, it is so excruciatingly painful, we have to be hospitalized. It's been described as having a child without medication. It's been described as having a tooth pulled without any deadening. It's really the worst pain I’ve ever, ever suffered," Miller said.

For different patients, with different categories of the illness, swelling can happen anywhere on the face, hands, arms, feet.

All forms of HAE are considered rare.

"The frequency is somewhere between 1 in 10,000 to 1 in 50,000, estimated," Huston said.

Those numbers include members of Miller’s family. Since the disease is genetic, she passed it on to three of her four children.

"I was concerned, but it was so much a part of my life now, by that point," she said thinking back to when her children were diagnosed. "I just knew that they would accept it."

Living with the illness means not knowing what could trigger the next hospitalization, the next swelling, having to get a tube put down her throat for inability to breathe.

The good news is medications have come a long way, and now patients can get protein infusions intravenously.

"Also, if we have a swelling episode there's now an injection that we can give ourselves that reverses the process in 15 minutes," Miller said. "It's a real miracle."

A blood test can identify HAE. The problem is there's so little known about this illness that it sometimes takes patients many emergency room and doctor visits before an allergist or immunologist who knows about this problem can properly diagnose patients.

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