CVID: A Common but Still Underdiagnosed Disease

Background: Among the more than 150 different forms of Primary Immunodeficiency Diseases (PID) the CVID is the most common symptomatic primary immunodeficiency, present mainly in adults. There is a failure of B cells to develop and differentiate into plasma cells; at consequent a reduction of the production of one or more isotypes of antibody can also affected Cell-mediated immunity. Common manifestations included recurrent bacterial infections, that typically involve the upper and lower respiratory tract. Some patients are highly prone to autoimmune manifestations, lymphoid hyperplasia, and tumors.

Methods:  We presented three cases of CVID with a variety of clinical presentation, evolution and complications related to delayed diagnosis.

Results: A 34 year old male presented chronic diarrhea, weight loss, malnutrition and recurrent upper respiratory infections; digestive tract endoscopy and biopsy was reported with villous atrophy, chronic inflammation and low grade non-Hodgkin's lymphoma B cell. Unfortunately this patient refused the use of gamma globulin treatment, had a high morbidity, and finally the patient died. The case of a nurse with clinical manifestation of recurrent rinosinusitis and pneumonia, which was diagnosed as IDCV 17 years later, after she developed pulmonary bronchiectasis. Fortunately the disease is under control and she is actually under treatment with intravenous immunoglobulin. Finally, the case of a 44 year old female, who suffered from recurrent upper respiratory infections, additionally had a thyroid gland tumor associated which affecting the thyroid function.

Conclusions: In the three cases had low levels of all immunoglobulin as a hallmark. The clinician must be suspecting this condition in all adults with recurrent infectious disease who have gastrointestinal symptoms or who are detected a malignant disease. Early diagnosis and correct treatment are critical in preventing tissue damage, long-term sequelae and death. Replacement with intravenous gamma globulin and antibiotics are the mainstays in the management of these patients.

References:

1. Shearer W, Fischer A. The last 80 years in primary immunodeficiency: How far have we come, how far need we go? J Allergy Clin Immunol 2006; 117:748-52.
2. Notarangelo L.  Primary immunodeficiencies. Allergy Clin Immunol 2010; 125:S182-94.