For most of his life, Forrest Daniell thought there wasn’t anything threatening about the frequency with which members of his family experienced nosebleeds.
Then, the 18-year-old son of a cousin died of a ruptured arteriovenous malformation (AVM) in his brain. Another relative survived a similar AVM rupture but has never fully recovered.
That’s when the Alabama man and his wife, Emma, decided to send blood samples from their three sons and one daughter to a Utah firm for testing. They wanted to know if the children might have hereditary hemorrhagic telangiectasia (HHT). Those tests came back positive and started the Daniell family on a journey seeking specialized care that eventually brought them to the University of Arkansas for Medical Sciences (UAMS) HHT Center.
The Hereditary Hemorrhagic Telangiectasia Foundation International recently designated UAMS the 13th HHT Center of Excellence in North America. UAMS was credited for assembling a team of specialists knowledgeable in the care and treatment of HHT, a genetic condition that causes abnormal blood vessel formation in the skin, mucous membranes or organs such as the lungs, liver or brain.
The disorder can cause nosebleeds, internal bleeding and other problems depending on the location of the abnormal blood vessel formation. For the children — Emalyn, Judson, Ethan and Josiah, the malformations have appeared mostly in the lungs.
Daughter Emalyn had a troubling one elsewhere. Five years ago when she was 6, a scan of Emalyn’s brain revealed an AVM near her speech center. She underwent an operation in Arizona that successfully removed the AVM, which turned out to be fragile and likely to rupture.
Earlier this year, Emma Daniell began searching for a place in the region where all of her children could receive care for HHT. She found it at the HHT Center at UAMS.
It was close enough to their home near Mobile that the entire family in October was able to come to the center for consultations with Mollie Meek, M.D., an interventional radiologist and an assistant professor in the College of Medicine. With Michael Beheshti, M.D., she serves as co-director of the HHT Center.
“Most people know if there is a strong history of nosebleeds in their family,” Meek said. “If they say, ‘Everyone in my family has nose bleeds or every other person has nose bleeds. That’s just who we are.’ Well, that’s not right or normal. People don’t normally have nose bleeds. In people with HHT, the nose bleeds generally are present around the time they are 12 or 13, puberty. Things sometimes get worse with puberty, problems with lungs and brain aneurysms.”
Genetic testing like the kind the Daniell family had done can determine whether a person has the gene that causes HHT.
HHT can cause brain abscesses, strokes, severe headaches, small clots that cause transient ischemic attack (TIA) strokes, shortness of breath and fatigue.
Judson, 7, has HHT-related anemia that can be treated with iron IVs. Scans found he also had some AVMs in his lungs that are too small yet for surgery. Josiah’s lungs and brain were fine despite his nose bleeds.
Meek said she will check the lungs of all the children every few years to make sure no new problems surface and to deal with them if they do.
With proper monitoring at the HHT Center, the Daniell family has a “wonderful prognosis,” she said.
Alabama Family Finds Care for Blood Vessel Disorder exportuser 2018-05-01T16:20:07-06:00