Study Suggests Recently Identified Inflammatory Disorder VEXAS Syndrome May Be More Common Than Thought

CNN
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David Adams spent six months battling an unnamed disease. He was in and out of the hospital several times a year. His inflamed hands felt like they were shoved into his gloves and he could no longer play his beloved classical his guitar or his jazz guitar.

He suffered from constant fever and fatigue. He even developed pain and swelling in his genitals. This was his first indication that something was really wrong.

“At the turn of 2016, I started having some really painful symptoms in my male anatomy,” said Adams, now 70. , and my white blood cell count was very low.

Next, Adams, who lives in Alexandria, Virginia, saw a hematologist, pulmonologist, urologist, rheumatologist, and dermatologist. Some of them thought he might have cancer.

Adams continued to develop fatigue, pneumonia, and a large rash below the waist. He tried at least a dozen of his medications and saw about 20 doctors, all to no avail.

In 2019, worsening symptoms forced him to retire early from his decades-long career in clinical data systems. But he didn’t know what was causing the problem.

Finally, in 2020, scientists at the National Institutes of Health discovered and named a rare genetic disorder. SEE syndromewreaks havoc on the body through inflammation and blood problems.

Adams had an appointment with a rheumatologist at the time, and when he entered the office, he found his doctor “headed like a little kid.”

In his doctor’s hand was a copy of a paper. New England Journal of Medicine Details of the discovery of VEXAS syndrome.

Adams had his answer.

“For the first time, there was a one-to-one correlation between symptoms,” he said. “It was quite a shock.”

A new study estimates that about 1 in 13,500 people in the United States may have VEXAS syndrome. Fatal inflammatory diseases may be more common than previously thought.

In contrast, hereditary diseases spinal muscular atrophy Occurs in about 1 in 10,000 people, Huntington’s disease It occurs in about 1 in 10,000 to 20,000 people.

Since its discovery, occasional cases of VEXAS have been reported in medical research, but this study reveals new estimates of its prevalence.

A study published Tuesday in the journal jamabout 1 in 13,591 people in the United States UBA1 genedevelops later in life and causes VEXAS syndrome.

“This study shows that there are likely tens of thousands of people with the disease in the United States, and that’s because doctors don’t really consider it as a broader diagnosis. Part is probably not recognized.” Dr. David Beckan assistant professor of medicine at NYU Langone Health and the lead author of the study.

VEXAS syndrome is not inherited, so people with VEXAS syndrome do not pass the disease on to their children.However, because the UBA1 gene is on the X chromosome, this syndrome is X-linked diseaseIt is more common in men who have only one X chromosome. A woman is usually unaffected if she has a mutation in a gene on one of her X chromosomes and not the other on her X chromosome because she has two of her X chromosomes.

“It is present in 1 in 4,000 men over the age of 50. Therefore, we think it is a disease that should be considered for testing symptomatic individuals.” In 2020, UBA1 mutations were shared among VEXAS patients. rice field.

“The advantage of VEXAS syndrome is that we have tests. We have genetic tests that can help provide a diagnosis directly,” he said. “This is a patient who meets the criteria — the elderly who have systemic inflammation, low blood counts, and who really don’t respond to anything but steroids — and who would be advised by their physician to undergo genetic testing for diagnosis. It is a matter of patients who are

Adams, who suffered from Beck’s disease, said eventually receiving a diagnosis and understanding the cause of his symptoms was life-changing.

“Having a diagnosis was really incredibly liberating,” he said.

“You can’t fight an enemy if they don’t have a name,” he added. “I finally have something I can point to and say ‘OK, I understand what’s going on’. This is VEXAS.”

For the new study, Beck and his colleagues at the NIH, New York University, the Geisinger Institute, and others are working to improve health care systems in central and northeastern Pennsylvania from January 1996 to January 2022. We analyzed data on 163,096 patients in . This includes electronic health records and blood. sample.

Eleven of the patients had a disease-causing UBA1 variant, and a 12th patient had a ‘highly suspicious’ variant.

Only three of the twelve survive. 5-year survival rate 63% previously reported in VEXAS.

Of the 11 patients in the new study who had pathogenic variants in UBA1, only 2 were female. Seven had arthritis as a condition and four were diagnosed with rheumatic diseases such as psoriasis of the skin and sarcoidosis, which cause swollen lumps on the body.

“No one had a previous clinical diagnosis of VEXAS syndrome,” Beck said.

The findings “underscore how important it is to single out these patients, make a diagnosis, and initiate aggressive or aggressive treatment to reduce inflammation,” he said. I got

VEXAS, an acronym for five clinical features of the disease, has no standardized treatment or cure, but symptoms can be managed with drugs such as the steroid prednisone and other immunosuppressants, Beck said. I’m here.

“But the toxicity of prednisone over the years is challenging. There are other anti-inflammatory drugs that we use that are only partially effective at the moment.” One treatment we have identified for individuals is a bone marrow transplant, which carries its own risks, but that only highlights the serious nature of the disease.”

The new study helps provide estimates of VEXAS syndrome prevalence and symptoms, but the data are not representative of the entire United States, and Beck believes that more people in a larger and more diverse group of people I need to do some research.

While some men may be hesitant to seek medical care because of VEXAS symptoms, Adams said doing so could save lives.

“Eventually it will get so bad that you will be at death’s door, like my first hospitalization,” Adams said. “You don’t want to be in that situation. I guess.”

Adams has been taking prednisone to ease her symptoms, and it has worked. However, steroid use can cause side effects such as cataracts and weight gain, so he is working with his doctor to find other treatments so he can reduce his medication intake.

Beck and his colleagues are studying targeted therapy Treatment and implementation of VEXAS syndrome stem cell bone marrow transplant trial at the NIH.

“There are many facets to this disease,” said Dr. Bhavisha Patel, a hematologist and researcher at the Institute of Hematopoiesis and Bone Marrow Failure at the National Heart, Lung and Blood Institute. As stated in an NIH news release last month.

“I think it’s a difficult thing when you think about therapy because it’s so heterogeneous,” said Patel, who was not involved in the new study.

“Both at the NIH and around the world, groups dedicated to VEXAS are looking for medical therapies to offer to other patients who are not eligible for bone marrow transplants,” she said. We continue to collaborate on many projects to further classify and ultimately find the best treatment options.”