What to Know About CVID, a Rare Immune Disorder That’s Often Misdiagnosed

Symptoms can vary widely but often include frequent infections, intense fatigue, and GI issues.
What Is Common Variable Immunodeficiency
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If you always catch whatever illness is going around while others in your circle stay healthy, you might just chalk it up to bad luck. (Or maybe the culprit seems clear—like if you’re taking a medication that makes you prone to infections.) But when you don’t have a strong sense of why you have to take tons of sick days—and feel like absolute hell when you do—your “bad luck” might be a larger medical issue.

For example, if you’re experiencing gastrointestinal pains, a doctor might suspect you have celiac disease. Or, if you’re constantly coughing, they might look into asthma. In many cases, these initial hunches can be correct—but sometimes, you’ll have to do more digging. Frequent infections could also mean that your immune system is compromised, according to the American Academy of Allergy, Asthma, and Immunology (AAAA). One little-known condition in this vein is common variable immunodeficiency (CVID). People with CVID have an impaired immune system that makes them more likely to develop recurrent bacterial and viral infections—especially in the lungs, sinuses, ears, and gastrointestinal (GI) tract, according to the US National Library of Medicine. (Think: stomach ailments, sinus infections, pneumonia, and ear infections.)

CVID is sneaky. Many people don’t show signs of the disorder until their 20s or 30s. And because symptoms vary from person to person, someone with CVID might experience only mild illness and actually feel fine most of the time. (Confused yet?) Plus, medical professionals aren’t always aware of the condition and can mistake CVID symptoms for something else,1 Nicholas Hartog, MD, allergist and immunologist with Corewell Health in Grand Rapids, Michigan, tells SELF. All of this makes diagnosing the disease a bit challenging.

Here’s what to know about CVID, including common symptoms, when to talk to a doctor about testing, and how the disorder is treated.

What is common variable immunodeficiency?

CVID is one of the most common primary immunodeficiency diseases (PIDD).2 PIDDs—now often called inborn errors of immunity (IEI)—are a group of nearly 500 genetic disorders that cause the immune system to malfunction. Sometimes, that means the body mistakenly attacks healthy tissue. In other cases, the immune system has a harder time fighting bacteria and viruses. Though the latter situation is more common among people with CVID, sometimes they’ll experience both: Twenty-five percent of people with CVID also have some type of autoimmune disorder, like immune thrombocytopenia (ITP), hemolytic anemia (AIHA), vitiligo, or multiple sclerosis.3

People with CVID tend to have abnormally low levels of immunoglobulins, or infection-fighting antibodies, in their blood, Kara Wada, MD, an immunologist at the Ohio State University Wexner Medical Center, tells SELF. This can sometimes lead to longer, more severe, or recurrent periods of illness, according to the AAAA.

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Your chances of having CVID aren’t super likely—but some factors increase the odds.

CVID affects roughly one in 25,000 to 50,000 people globally. While a family history of the disease is present in about 10% of cases, researchers aren’t entirely sure why CVID develops otherwise. Environmental factors likely play a role, but scientists don’t know which exact ones may contribute to the development of CVID.

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CVID symptoms span a wide range, but some are more common than others.

CVID flares up in a number of ways, Catherine Monteleone, MD, an allergist-immunologist at Rutgers Robert Wood Johnson Medical School, tells SELF. That said, there are signs to keep an eye on, according to Cleveland Clinic, the National Institute of Allergy and Infectious Diseases (NIAID), and the National Organization for Rare Diseases (NORD). Here are some that doctors frequently see:

  • Frequent sinus infections: If you get these time and time again, or if you have a hard time recovering from each bout of sickness, that’s cause for concern, says Dr. Wada: “Generally, if someone has sinus infections more than two times per year, they need to be evaluated for underlying causes [including] immune deficiency.”
  • Frequent ear infections: These are especially noteworthy, says Dr. Hartog: “The development of middle ear infections is very uncommon in adults. You usually see those in kids.” Like many illnesses made more severe by CVID, the infection occurs when bacteria or viruses invade the body—in this case, in the middle ear.
  • Breathing problems: This could manifest as chronic cough (which can also involve a stuffy or runny nose, a scratchy throat, or wheezing) or an infection like bronchitis.
  • Frequent gastrointestinal problems: A person with CVID might experience diarrhea, abdominal pain, bloating, nausea, vomiting, or unintended weight loss. They could also have problems absorbing certain nutrients or issues with their liver.
  • Pneumonia: Some research suggests that over half of people diagnosed with CVID will have this lung infection at some point in their lives. “Recurrent pneumonia, by all means, would be a red flag [for CVID],” says Dr. Hartog. He adds that even a single case in your 30s or even 40s—a typically rare occurrence—could mean something is wrong, be it CVID or another condition.4
  • Pain, inflammation, or swelling in the knees, ankles, elbows, and wrists: Joint pain and arthritis are associated with CVID in some cases.
  • Fatigue: Research suggests that most people with CVID will experience periods of low energy that negatively affect their well-being.5

If you have CVID, you might only have one or a few of the symptoms above—or you might experience all of them, Dr. Wada adds. And as a reminder: How severe (or mild) they are is different for everyone.

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You might not get an accurate diagnosis during your first doctor visit.

Unearthing the root cause of feeling regularly sick or generally unwell can be a journey. A diagnosis for a chronic condition—be it a PIDD, or something else entirely—usually doesn’t happen after a single appointment with a health care provider.

This is particularly true of CVID, which is underrecognized, Dr. Hartog says. Doctors may generally assume that an underlying health concern, or the symptoms themselves, stem from a more common issue, Dr. Wada says. GI problems are just one example: “Intestinal problems [caused by CVID] can be mistaken for celiac disease,” he says.

Dr. Hartog notes that identifying what’s really going on can take persistence. Even when a health care provider is familiar with CVID and wants to screen for it, it can take time to observe a pattern of indicators that could imply a person has it. Many doctors use a person’s medical history to detect the condition, which can sometimes be misleading if the disease develops later in life: “CVID can start at any age, and there is a group of people who are diagnosed in adulthood because their symptoms started in adulthood. We don’t know why that happens,” Dr. Hartog says.

If your doctor does suspect you have CVID, they’ll likely order a blood test or refer you to an immunologist. A low immunoglobulin level reading might signal the disease is present, but a specialist will usually also weigh other factors—like your history of infections and current symptoms—to inform a diagnosis. “It does take a bit of awareness and understanding to detect,” Stanley A. Schwartz, MD, PhD, division chief of allergy, immunology, and rheumatology at the University at Buffalo, tells SELF. Digging into your health history is a great method of helping a clinician as they figure things out.

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There are solid treatment options for CVID, but no cure.

Most folks with CVID are prescribed immunoglobulin replacement therapy6 to deal with symptoms, according to the AAAA. This is a blood-based infusion that contains antibodies to help people with CVID patients fight infection. It’s typically administered via an IV or under the skin on a weekly or monthly basis, Dr. Hartog says. When a person with CVID regularly undergoes that treatment, their prognosis is usually good: “Generally speaking, once people are under replacement therapy, they should live healthy lives,” Dr. Schwartz adds.

Undergoing immunoglobulin infusions doesn’t mean people with CVID will never get sick again. “I tell my patients that they’re at a higher risk of respiratory infections, and that they should wear a mask around other people,” Anju Peters, MD, an allergy and immunology specialist at Northwestern Medicine, tells SELF. Practicing good handwashing hygiene can help wipe out harmful pathogens too.

Staying up to date on routine vaccines, like those for the flu and COVID-19, can also help some people with CVID avoid getting severely sick, Dr. Peters says. But a big caveat, as Dr. Hartog clarifies, is that people with CVID sometimes don’t respond to vaccines well.1 The reason for that is a little complicated, but, essentially, it’s because some vaccines elicit potentially complicated responses from people with weakened immune systems. Dr. Hartog says it’s important for people with CVID to consult with an immunologist before getting any type of viral vaccine.