By Terri Dee, Public News Service
Today is Rare Disease Day, an annual observance to raise awareness about uncommon and often misdiagnosed medical disorders.
Support for families and loved ones of individuals with rare diseases is often limited simply because of their lack of familiarity. One such hereditary condition, known as Hereditary Hemorrhagic Telangiectasia or HHT, affects more than 600 Hoosiers, according to the Indiana Hemophilia and Thrombosis Center.
HHT can cause spontaneous and chronic nosebleeds, and only 20% are estimated to know they have it. Early detection is important, said Dr. Magdalena Lewandowska, a hematologist at the center.
“We confirm this with genetic testing,” she said. “So, about 90% of patients who have HHT have a gene mutation. There’s a 50% chance of inheriting it if one of your parents is affected with HHT.”
She said common symptoms can include malformed blood vessels in the brain, lungs and liver, or pin-sized reddish-purple spots on a person’s skin.
An additional barrier for patients with rare diseases is locating a specialist to treat them. The Undiagnosed Diseases Network Foundation defines an “ultra-rare” disease as one that affects one in 50,000 people.
Doctors face challenges in diagnosing HHT and other unique illnesses because a specific disease may not be verifiable, due to very little research about it in medical journals. Patients can be frustrated when the necessary tests are unavailable, or the disease mimics another disorder, leading to misdiagnosis.
In 2022, registered nurse Abby Terzini had symptoms of HHT. She said she was in denial – although three family members had the disease.
“I just started having more nosebleeds,” Terzini said. “‘It’s just allergies’ – or, ‘It’s just this, that or the other, it’s not a big deal. I’m not having any big issues with this, so I don’t need to go to the doctor.'”
Terzini said she eventually decided to get help from doctors who prescribe “bleed kits” containing medication to prevent or lessen the severity of a nosebleed. In 2024, it was reported that a drug used to treat bone marrow cancer and Kaposi sarcoma – a cancer that affects the blood vessels and lymphatic system – is showing promising results for HHT as well.
Source: Public News Service
