Common Variable Immunodeficiency
Our immune system defends us against microorganisms that cause infections. It also protects us from certain cancers. Thus when the immune system functions sub-optimally, we are more susceptible to infections and cancers.
Common variable immunodeficiency (CVID) is one of the most common conditions where the immune system is deficient or less functional.
Causes:
It is thought that genetic defects are most likely the underlying cause for this condition, although specific gene defects were identified in only 10% of the cases. Common variable immunodeficiency is known to occur more commonly in certain families which also suggests a genetic cause.
Males and females are equally affected in CVID. Common variable immunodeficiency occurs in approximately 1 out of every 25,000 individuals. Even though the condition is present from early childhood, it is most commonly diagnosed in the second or third decades of life.
Symptoms:
The most common presentation of CVID involves recurrent infections involving various organ systems. The infections are typically as specified below:
- Upper respiratory and/or sinus infections
- Ear and/or throat infections
- Bronchitis and/or pneumonia
- Gastrointestinal infections
- Neurological infections
- Fatigue, joint pains (i.e., arthralgias), and/or muscle pains (i.e., myalgias)
The infections can vary in severity from mild to severe. Many patients require emergency room visits and/or hospitalizations for the management of severe infections.
Physical examination sometimes reveals enlarged lymph nodes and rarely skin rashes.
Diagnosis:
The diagnosis of common variable immunodeficiency is initially suspected on the basis of a history of recurrent infections for a number of years, often with unusual or rare organisms.
Confirmation of the diagnosis is completed by blood tests which reveal lower numbers of lymphocytes and antibodies (i.e., proteins that fight infections) compared to normal reference levels. Measuring antibody levels before and after vaccinations is also helpful in testing the ability of the immune system to manufacture specific antibodies. It should be noted that CVID patients cannot respond to immunizations adequately and thus do not mount a good immune response to vaccinations.
Treatment:
- Antibiotic treatment for infections: Patients need prolonged courses of antibiotics in order to adequately treat severe bacterial infections.
- Prophylactic antibiotics: Patients require prophylactic antibiotics in order to prevent infections prior to surgical and/or dental procedures.
- Antibody supplementation: Most patients need regular infusions of antibodies, which are pooled from donors, either through a vein (i.e., intravenous) or under the skin (i.e., subcutaneous) on a regular basis. This treatment maintains the integrity of the immune system and helps prevent frequent and repeated infections. This treatment, known as gamma globulin therapy (i.e., immunoglobulin therapy, antibody replacement therapy), needs to be continued lifelong, as there is no cure for common variable immunodeficiency.
Complications:
Patients with CVID are more likely to develop autoimmune disorders affecting the thyroid gland, liver, and connective tissues. Autoimmune conditions may also attack blood cells resulting in anemia and/or low platelet counts. Low platelet counts usually manifests itself as easy bruisability and/or increased bleeding.
Individuals with common variable immunodeficiency are also more susceptible for certain types of cancers and granulomas (i.e., inflammatory swellings) in the skin, lymph nodes, stomach, and/or liver. For this reason, patients need regular monitoring, surveillance, and screening for these type of cancers. It is recommended that all individuals with this disorder follow up with their primary care physician on a routine basis in order to be diligent in this regard.
Prognosis:
With regular antibody replacement therapy, prophylactic and curative antibiotic regimens, and close monitoring for complications, most individuals with CVID can lead long and fulfilling lives.
The board certified allergy doctors at Black & Kletz Allergy have 3 convenient office locations in the Washington, DC, Northern Virginia, and Maryland metropolitan area and are very experienced in the diagnosis and treatment of immunodeficiency disorders such as common variable immunodeficiency. Black & Kletz Allergy treat both adults and children and have offices in Washington, DC, McLean, VA (Tysons Corner, VA), and Manassas, VA. We offer on-site parking at each location and the Washington, DC and McLean, VA offices are Metro accessible. There is a free shuttle that runs between the McLean, VA office and the Spring Hill metro station on the silver line. Please call our office to make an appointment or alternatively, you can click Request an Appointment and we will respond within 24 hours by the next business day. The allergy specialists at Black & Kletz Allergy have been serving the Washington, DC metropolitan area for more than 5 decades. We pride ourselves in providing excellent immunological care as well as exceptional allergy and asthma care in a professional and friendly setting.