DUBAI, United Arab Emirates (CNN) — David Adams has been battling an unknown disease for 5 years. He came and went to the hospital several times a year. Due to his arthritis, his hands felt like gloved hands and he could no longer play the classical and electric guitars he loved.
He was constantly suffering from heat and fatigue. He even developed pain and swelling in his genitals, which was the first sign that something was wrong.
“In early 2016, the disease started having very painful effects on the male anatomy,” said Adams, now 70. He continued, “After that, he felt very tired again, and at that time his GP asked him to do a blood test, and it was found that my white blood cell count was very low. low.”
Next, Adams, who lives in Alexandria, Virginia, visited a hematologist, a pulmonologist, a urologist, a rheumatologist, and then a dermatologist. Some of them thought he might have cancer.
Adams’ symptoms continued, he felt increasingly tired, suffered from pneumonia and a severe rash below his waist. He tried no less than 12 drugs and consulted about twenty doctors, without result.
In 2019, his symptoms worsened, prompting him to retire early from his decades-long career in clinical data systems. But he remained ignorant of the cause of his problems.
Finally, in 2020, scientists from the National Institutes of Health discovered a rare genetic condition, which they called VEXAS syndrome, which wreaks havoc on the body through inflammation and blood problems.
Adams had an appointment with his rheumatologist at the time, and when he walked into his office he saw that his doctor “was as happy as a little child.”
He was holding a copy of a study published in the New England Journal of Medicine detailing the discovery of VEXAS syndrome.
As a result, Adams got the expected response and said, “For the first time there was a direct correlation to the symptoms. It was a huge shock to me.”
The vast majority are misdiagnosed
A new study suggests that one in about 13,500 people in the United States may develop Vicksas syndrome, meaning the mysterious and sometimes deadly inflammatory disorder may be more common than previously thought.
While the genetic condition, spinal muscular atrophy, affects about 1 in 10,000 people, Huntington’s disease affects about 1 in 10,000 to 20,000 people.
Since the discovery of Vexas syndrome, occasional cases have been reported in medical research, but the study has revealed new estimates of its prevalence.
About 1 in 13,591 people in the United States have mutations in the UBA1 gene, which develops later in life and causes Vexas syndrome, research published in the journal JAMA reported on Tuesday.
Commenting on the discovery, Dr. David Beck, assistant professor in the Department of Medicine at NYU Langone Health and senior author of the scientific research, said, “This study shows that there could be tens of thousands of patients in the states United with this disease, and most of them have not been identified because they have this syndrome because doctors do not consider it a common diagnosis. »
Vexas syndrome is not hereditary, so sufferers do not pass the disease on to their children. But the UBA1 gene is on the X chromosome, so the syndrome is an X-linked disease. This mainly affects males as they only carry one X chromosome, while females have two X chromosomes, so if they have a mutation in a gene on one X chromosome but not the other they will usually not be affected.
“We find it in 1 in 4,000 men over the age of 50. So we think it’s a disease that should be considered in terms of screening people with symptoms,” said Beck, who also led the federal research team that identified the UBA1 mutation. in patients with Vexas syndrome in 2020. .
“The advantage of Vexas syndrome is that we have a test. We have a genetic test that can directly help in diagnosis,” he said. “These are patients who meet the criteria, who are older, who have systemic inflammation, who have low blood counts, who really only respond to steroids, and whose doctors ask them to do genetic testing. to get a diagnosis,” he added.
Adams, who became Beck’s patient, said finally getting the diagnosis and understanding the cause of his symptoms was life changing.
The severity of the disease
For the new study, Beck and colleagues from the National Institutes of Health, New York University, Geisinger Research and other institutions analyzed data from 166,096 patients enrolled in a central and northern health system. -eastern Pennsylvania between January 1996 and January 2022, including electronic health records. and blood samples. .
They found that 11 patients had the disease-causing UBA1 mutation and 12 had “highly suspicious” mutations.
Only three of the 12 are still alive. The five-year survival rate after Vexas syndrome was previously 63%.
Of the 11 patients in the new study who had disease-causing mutations in UBA1, only two were female. Seven had arthritis as a symptom and four were diagnosed with rheumatic diseases, such as skin psoriasis or sarcoidosis, which causes swelling of the body. All had anemia or low blood cell counts.
“None of them had ever been clinically diagnosed with Vexas syndrome,” Beck noted.
He added that the results “highlight the importance of being able to select these patients, give them a diagnosis and initiate aggressive therapies to control their inflammation.”
VEXAS, an acronym for Five Clinical Characteristics of the Disease, has no cure or standardized treatment, but Beck says symptoms can be controlled through the use of drugs such as the steroid prednisone or other immunosuppressants.
“The level of toxicity of prednisone over the years has been a challenge. There are other anti-inflammatory drugs that we use, but they are only partially effective at the moment,” he noted. He added: “One of the treatments that we have seen very successful in individuals is bone marrow transplantation. This has its own risks, but it only underscores the serious nature of the disease.”
Although the new study helps provide estimates of the prevalence and symptoms of VEXAS syndrome, the data is not representative of the entire United States, and Beck said more research needs to be done in a group of larger and more diverse people.
Some men may be reluctant to see a doctor for Vicksas symptoms, but Adams said it could save their lives.
Adams takes prednisone to relieve her symptoms, and it helps. But since steroid use can have side effects like cataracts and weight gain, he’s been working with his doctors to find other treatments to reduce his drug use.
“Many different aspects”
Beck and his colleagues are studying targeted therapies for Vexas syndrome, as well as stem cell bone marrow transplant trials at the National Institutes of Health.
Dr. Bhavisha Patel, a hematologist and researcher in the National Heart, Lung, and Blood Institute’s Blood Formation and Bone Marrow Failure Laboratory, noted in a National Institutes of Health press release last month that “there are many different aspects of the disease”.
“That’s the challenge we face when we think about treatment, because (the disease) is very heterogeneous,” thought Patel, who was not involved in the new study.
“At the National Institutes of Health and around the world, groups dedicated to VEXAS are researching medical therapies to offer to other patients who are not eligible for bone marrow transplantation,” she said. “We continue to collaborate on many projects to better classify this disease and ultimately provide the best treatment options,” she added.