Common Variable Immunodeficiency

Also Know As Late Onset Hypogammaglobulinemia

Common variable immunodeficiency

Common Variable Immunodeficiency (CVID) is a medical condition typified by low levels of serum immunoglobulins or plasma cells which makes the affected individual vulnerable to infections. The manifestations are diverse so that different body systems can be involved. Around 20% of patients have autoimmune disorder. The risk of getting cancer is also higher among the affected people. ^{[1] [2]}

Epidemiology

Prevalence is estimated to be 1 per 50,000 people. The disorder equally affects both genders. It can occur in any age. Some may present symptoms on the early years of life while some may have late onset type. ^[3]

Causes

CVID is thought to be a consequence of gene mutation. It is estimated that 10% have mutation located in the TNFRSF13B gene. CVID can be inherited either in an autosomal recessive pattern or autosomal dominant pattern. Most cases however are sporadic and are thought to have resulted from the interplay of environmental and genetic factors. ^[2]

Signs and Symptoms                                                                                           

Affected persons often have a history of repeated infections involving the upper and lower respiratory tracts. They can have recurrent acute infections including otitis media, diarrhea, pneumonia and sinusitis. Patients may also notice enlargement of lymph nodes found in the neck, abdomen or chest. The spleen may also enlarge as well as the Peyer’s patches located in the intestine. Gastrointestinal problems are occasionally reported among patients. These include abdominal pain, bloating, nausea, vomiting, diarrhea and weight loss. ^[1]

Diagnosis

Recurrent infections as apparent in medical history lead to a suspicion of CVID. Confirmatory tests that determine levels of immunoglobulin are commonly done. Pulmonary abnormalities can be checked by using imaging studies like chest radiography. Enlarging lymph nodes may warrant biopsy. Lesions in the airway or gastrointestinal tract can be studied through bronchoscopy or endoscopy. ^[1][3]                                                                                                                                            

Treatment

The mainstay of treatment is replacement therapy. Immunoglobulin can be given intravenously or subcutaneously. Adverse reactions should be monitored closely. When there are signs of infection, antimicrobial therapy must be started. When there are complications of CVID like severe autoimmune thrombocytopenia or hemolytic anemia, removal of the spleen may be required. ^[3]

References:

1.      http://primaryimmune.org/about-primary-immunodeficiency-diseases/types-of-pidd/common-variable-immune-deficiency

2.      http://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency

3.      http://emedicine.medscape.com/article/1051103-overview#aw2aab6b2b4

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