Document Detail

Misdiagnosis of common variable immune deficiency.
MedLine Citation:
PMID:  24692376     Owner:  NLM     Status:  In-Data-Review    
We present details of a man who was originally diagnosed with sarcoidosis, based on a combination of nodal granulomatous inflammation and radiology confirming bilateral hilar lymphadenopathy with pulmonary infiltrates. The patient subsequently developed splenomegaly and idiopathic thrombocytopenic purpura (ITP) and, latterly, a severe cavitating pneumonia. Serum immunoglobulins were checked, confirming panhypogammaglobulinaemia, and his diagnosis was revised to common variable immune deficiency (CVID). CVID is a heterogeneous condition, which can mimic sarcoidosis with granulomatous organ involvement and is commonly complicated by autoimmune disorders, including ITP. Prompt recognition is important to allow early introduction of immunoglobulin replacement therapy to decrease infection frequency, reduce development of secondary disease complications and retard progression of tissue damage. Given the potential for misdiagnosis and delay in recognition of CVID, serum immunoglobulin measurement should be a first-line investigation in patients with suspected sarcoidosis, even if the presentation is 'typical'. Current international sarcoidosis guidelines should be revised accordingly.
Anne-Marie Shanks; Ratna Alluri; Richard Herriot; Owen Dempsey
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Publication Detail:
Type:  Journal Article     Date:  2014-04-01
Journal Detail:
Title:  BMJ case reports     Volume:  2014     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2014  
Date Detail:
Created Date:  2014-04-02     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
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