If there's a doctor more influential than the Mayo brothers, it's William Osler, the 19th century founder of Johns Hopkins, a physician sometimes known as "the father of modern medicine."
So when you consider that the condition formally known as HHT was first identified in part by Osler and even bears his name ("Osler-Weber-Rendu syndrome"), it tells you HHT is no fad illness.
HHT stands for hereditary hemorrhagic telangiectasia, and despite the long name, for a variety of reasons it's becoming better known of late. For organizers of the Cure HHT fundraising walk Saturday at Soldier Memorial Field, the day HHT becomes as familiar to doctors and families as the common cold can't come soon enough.
They say the hard-to-diagnose disease, while rare (it affects 1 in 5,000), is easily overlooked within the medical system. That raises the risk that the often benign symptoms of HHT can mask or lead to more serious problems.
For instance, HHT is frequently diagnosed after problems develop with recurring nosebleeds. That's hardly a symptom that triggers medical attention. Dry air and other common conditions can cause nosebleeds. But if the nosebleeds continue for hours on end and for several times daily, it might warrant a closer look.
"I'm not thinking HHT for everybody with nosebleeds," said Dr. Anjali Bhagra, associate professor of internal medicine at Mayo Clinic. Doctors frequently need to look for genetic susceptibility and other symptoms before screening young children with imaging methods.
'Can get out of hand quickly'
Neeta Pai, a local volunteer for the MD-based Cure HHT organization and a patient with HHT pulmonary hypertension and a deficit in clotting factor herself says says that missed HHT diagnosis led her to lose so much blood while waiting for care in an ER that her heart rate dropped and she briefly lost consciousness.
"This can get out of hand pretty quickly," Bhagra said. "There's a huge social and psychological aspect to this. This is potentially heartbreaking to watch for a parent if it is happening to your children."
Physiologically, HHT is a genetic flaw that causes so-called arteriovenous malformations, or AVMs. AVMs are pockets within the capillaries where oxygenated blood pools, causing internal bleeding and the downstream consequences that can result.
Because they can occur throughout the body, AVMs can produce both serious and minor consequences. They can occur in the skin, nose, and GI tract, where they are generally minor. But AVMs also occur in the liver, lungs and the brain, and the complications can be serious, even deadly.
Children are the population of the highest concern. That's because the only way to screen for the condition requires procedures doctors do not like to perform on their developing organs unless medically necessary: CT scans and MRI's. It's a difficult decision, but one made easier by the fact that HHT is heritable. If a parent has it, there's a 50 percent chance a child has it as well.
When a new condition appears on the fundraising radar with complex coordination and a national headquarters, it can be easy to wonder if sponsorship funding signals a specialty illness with new treatments on the horizon. And indeed, academic meetings for HHT are co-sponsored by a deep bench of medical device, genetic testing and pharmaceutical research companies. Abstracts available online show the pricey anti-cancer drug Avastin has been proposed as a injectable adjunct treatment for those with nosebleeds, a symptom normally treated conservatively. Avastin is not FDA approved for HHT.
But other factors suggest it just might be HHT's moment for deeper recognition in the general population. Because the condition occurs throughout the body, a variety of differing treatments are in play, making it a true cause for medical footwork and renewed attention to the whole patient. Some of these interventions, like cauterization, are as old as the age of Osler. Others, like the use catheters to insert coils in lung AVM's at risk of sending blood clots to the brain, are highly complex and potentially lifesaving.
"The size, site, access of AVMs all effect the decision whether to treat," says Baghra. "It's a complex illness. It's not like one size fits all. If a problem devlops in the brain, you get a neurosurgeon. It could be treated with vascular radiology or vascular surgery."
HHT in the nose and GI tract may only require iron supplements. HHT in the lungs, however, can be silent and lead to deadly brain embolisms or serious consequences during pregnancy. Doctors used to perform surgery to disrupt lung AVMs, but n ow they close them off by inserting miniature coils through complex catheter surgery. It is the primary treatment to manage the difficult condition. No systemic cure for HHT yet exists.
If you go
What: Cure HHC Rochester Walk
When: 9 a.m. Saturday
Where: Soldiers Field Veterans Memorial, 300 Seventh St. SW