The Duke University Medical Center (DUMC) Experience with Common Variable Immune Deficiency (CVID)

Abstract

RationaleCVID is a heterogeneous group of disorders, characterized by humoral immune deficiency and associated with cellular defects with variable presentation, making diagnosis and management uniquely challenging. We sought to describe the DUMC experience with patients referred from around the region and managed for CVID.MethodsAll patient encounters entered in the DUMC Health System from January 2005 until January 2012 were screened for a diagnosis code consistent with CVID. Patient characteristics including comorbid disease conditions, infectious complications, and immunologic parameters were recorded and analyzed.ResultsOur search revealed 283 individuals recorded as having CVID. A review of their records revealed 103 of these cases met the standard criteria for CVID. Median immunoglobulin levels were IgG 206 mg/dL, IgA 5 mg/dL, IgM 20 mg/dL. 38 % were 18 years or younger at the time of diagnosis. 94% had significant comorbid disease that included autoimmune disease, malignancy, lymphoproliferative disease, chronic lung disease, chronic GI disease and/or mood disorder. Cytopenias were common with leukopenia (23%), thrombocytopenia (44%), anemia (49%), and neutropenia (24%) observed. There was a statistically significant correlation between diagnosis at 18 years or younger and the presence of pancytopenia (p= <0.0001). 9 patients underwent immunization with bacteriophage ΦX174, all of whom demonstrated abnormal antibody response.ConclusionsWe present data on 103 patients with CVID seen at a major academic medical center. The diagnosis of CVID was incorrect in 36% of the identified cases and the majority of our patients had significant comorbid disease, highlighting some of the challenges associated with diagnosing and managing CVID. RationaleCVID is a heterogeneous group of disorders, characterized by humoral immune deficiency and associated with cellular defects with variable presentation, making diagnosis and management uniquely challenging. We sought to describe the DUMC experience with patients referred from around the region and managed for CVID. CVID is a heterogeneous group of disorders, characterized by humoral immune deficiency and associated with cellular defects with variable presentation, making diagnosis and management uniquely challenging. We sought to describe the DUMC experience with patients referred from around the region and managed for CVID. MethodsAll patient encounters entered in the DUMC Health System from January 2005 until January 2012 were screened for a diagnosis code consistent with CVID. Patient characteristics including comorbid disease conditions, infectious complications, and immunologic parameters were recorded and analyzed. All patient encounters entered in the DUMC Health System from January 2005 until January 2012 were screened for a diagnosis code consistent with CVID. Patient characteristics including comorbid disease conditions, infectious complications, and immunologic parameters were recorded and analyzed. ResultsOur search revealed 283 individuals recorded as having CVID. A review of their records revealed 103 of these cases met the standard criteria for CVID. Median immunoglobulin levels were IgG 206 mg/dL, IgA 5 mg/dL, IgM 20 mg/dL. 38 % were 18 years or younger at the time of diagnosis. 94% had significant comorbid disease that included autoimmune disease, malignancy, lymphoproliferative disease, chronic lung disease, chronic GI disease and/or mood disorder. Cytopenias were common with leukopenia (23%), thrombocytopenia (44%), anemia (49%), and neutropenia (24%) observed. There was a statistically significant correlation between diagnosis at 18 years or younger and the presence of pancytopenia (p= <0.0001). 9 patients underwent immunization with bacteriophage ΦX174, all of whom demonstrated abnormal antibody response. Our search revealed 283 individuals recorded as having CVID. A review of their records revealed 103 of these cases met the standard criteria for CVID. Median immunoglobulin levels were IgG 206 mg/dL, IgA 5 mg/dL, IgM 20 mg/dL. 38 % were 18 years or younger at the time of diagnosis. 94% had significant comorbid disease that included autoimmune disease, malignancy, lymphoproliferative disease, chronic lung disease, chronic GI disease and/or mood disorder. Cytopenias were common with leukopenia (23%), thrombocytopenia (44%), anemia (49%), and neutropenia (24%) observed. There was a statistically significant correlation between diagnosis at 18 years or younger and the presence of pancytopenia (p= <0.0001). 9 patients underwent immunization with bacteriophage ΦX174, all of whom demonstrated abnormal antibody response. ConclusionsWe present data on 103 patients with CVID seen at a major academic medical center. The diagnosis of CVID was incorrect in 36% of the identified cases and the majority of our patients had significant comorbid disease, highlighting some of the challenges associated with diagnosing and managing CVID. We present data on 103 patients with CVID seen at a major academic medical center. The diagnosis of CVID was incorrect in 36% of the identified cases and the majority of our patients had significant comorbid disease, highlighting some of the challenges associated with diagnosing and managing CVID.