Genetic Condition Causes People To Double In Size


A rare genetic condition affecting approximately 1 in 50,000 people can cause people to swell up at random.

Hereditary angioedema, which leads to low protein levels in the blood, causes body parts to double in size without warning.

Linda Miller, who has the genetic condition, explained that medications for allergic reactions do little to help.

“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,” Miller told KPRC.

The rarity of the condition makes it harder to diagnose and treat, as it can take a long time for some people to be diagnosed.

Dr. David Huston, associate dean at Texas A&M College of Medicine, explained the result of having low blood protein levels.

“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,” he said.

Even though this is known, it often remains unclear what causes an HAE attack.

“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,” Huston added.

Attacks can affect many parts of the body, including the face or stomach.

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“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 told KPRC. “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.”

Three of Miller’s four children inherited the condition.

“I was concerned but it was so much a part of my life now, by that point,” Miller added. “I just knew that they would accept it.”

Treatments are improving, although much remains to be done.

“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 told KPRC. “It's a real miracle.”

A documentary showing the impact of the condition on four people has been produced by a filmmaker with HAE. The movie is called “Special Blood,” reports the Winston Salem Journal.

Sources: KPRC, Winston-Salem Journal / Photo credit: KPRC screenshots via Daily Mail

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