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Granulomatous Disease in CVID: A Mimicker of Sarcoidosis FREE TO VIEW

Ailia Ali, MD; Sarah Hadique, MD
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West Virginia University, Morgantown, WV

Chest. 2013;144(4_MeetingAbstracts):902A. doi:10.1378/chest.1705087
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SESSION TITLE: Miscellaneous Case Report Posters I

SESSION TYPE: Affiliate Case Report Poster

PRESENTED ON: Tuesday, October 29, 2013 at 01:30 PM - 02:30 PM

INTRODUCTION: Common variable immunodeficiency (CVID) is a ommon primary immunodeficiency, characterized by low serum immunoglobulin levels and impaired antibody response. CVID consists of broad, heterogeneous phenotypes, characterized by systemic infections, autoimmune disorder, benign lymphoproliferation, neoplasia and granulomatous disease. Upto twenty percent of these patients have concurrent non-caseating granulomatous disease resembling sarcoidosis. Granulomatous disease can precede a diagnosis of CVID resulting in delay in diagnosis.

CASE PRESENTATION: A 55-year-old female, with a history of recurrent sinopulmonary infections was referred for a second opinion with concerns for sarcoidosis. CT scan of chest, abdomen showed multiple pulmonary nodules with mediastinal, axillary, abdominal and inguinal lymphadenopathy. Axillary lymph node biopsy showed florid follicular lymphocytic hyperplasia with no evidence of malignancy. Pulmonary nodules were found to be resolving and reappearing at different locations on serial CT scans. She also developed pancytopenia, hepatosplenomegaly and pruritic skin rash. Bone marrow biopsy was unremarkable. Skin biopsy showed superficial lymphocytic dermatitis with eosinophils. Due to history of recurrent infections, immunoglobulins were checked and found to be low. Patient was started on monthly immunoglobulin infusions. Patient subsequently developed intermittent low-grade fever, persisting for 6 weeks. She was empirically treated with antibiotics for presumed respiratory tract infection, but fever persisted. Extensive infectious work up remained negative. Due to pancytopenia and hepatosplenomegaly, liver biopsy was done, showing granulomatous process. Serum angiotensin-converting enzyme (ACE) and calcium levels were elevated. Presumed diagnosis of sarcoidosis was made and patient referred to our clinic on corticosteroids therapy. Patient’s clinical picture and work up was diagnostic of CVID. Multisystem granulomas are well documented in patients with CVID involving lung, liver, skin and spleen, which were all involved in this patient. Elevated serum ACE and calcium levels are nonspecific findings seen in any granulomatous disease.

DISCUSSION: Diagnosis of CVID is frequently hampered as patient is considered to have sarcoidosis when granulomas are discovered. Cause of granuloma formation remains unknown but results in increased morbidity and mortality. Intravenous immunoglobulin is the mainstay of therapy. Immunosuppressive agents are effective in reducing many autoimmune and granulomatous manifestations, but pose a challenge for such immunocompromised patients.

CONCLUSIONS: Delays in recognizing CVID are common due to heterogeneity in presentation. Granulomatous disease is one of the important manifestations of CVID, which continues to be unknown to many clinicians.

Reference #1: Ardeniz O, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Clin Immunol. 2009 Nov;133(2):198-207

DISCLOSURE: The following authors have nothing to disclose: Ailia Ali, Sarah Hadique

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