With more than 30 years of experience, Albany Stratton VA Medical Center Rheumatologist Dr. Ruben Peredo-Wende says his heart still beats a bit faster with the excitement of a new medical discovery.

"It's cool, and actually, that's my driving force to be here," said Peredo-Wende.

Identified by the National Institutes of Health in 2020, VEXAS syndrome is a rare genetic disorder.

"It stands for V for vacuoles; E is for the enzyme that is linked to an X chromosome; and A is autoinflammatory syndrome; and the S is for somatic mutation," said Peredo-Wende. "It's a combination of hematologic and rheumatologic problem."

For years, patients experienced the same mysterious symptoms without anything to point to.

"What they saw is a lot of problems in rheumatology, lack of vasculitis, arthritis, skin disorders, and lung problems, too," said Peredo-Wende. "So whenever they overlap these findings, everything that pointed towards something specific was that they were not responding to the therapy and they had something else in the bone marrow."

VEXAS syndrome isn't something you're born with. It develops later in life, as the UBA1 gene mutates in the bone marrow. The latest data shows that altered gene is much more common than researchers initially believed.

Scientists estimate more than 15,000 people in the United States may have it. According to Science News, in the over-50 population, 1 in 4,000 men and 1 in 26,000 women are affected.

"So, who develops myelodysplasia? Patients who are exposed to something that is an insult to the bone marrow, to the body," said Peredo-Wende. "For example, patients who had already cancer, patients who had already an infection, patients who are who get radiation therapy or who had a chronic inflammation."

VEXAS syndrome can wreak havoc on the body through inflammation and blood problems and for some, it can be deadly. But Dr. Peredo-Wende says the discovery, and now the revelation of its prevalence, are precursors to finding a cure.