Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?

BMC Gastroenterol

Internal Medicine Department, Botucatu Medical School, São Paulo State University (UNESP), Av. Prof. Montenegro, S/N - Distrito de Rubião Junior, Botucatu, São Paulo, 18618-687, Brazil.

Published: September 2022

AI Article Synopsis

  • CVID is a rare immunodeficiency disorder that often has intermittent symptoms, making it hard to diagnose in both children and adults, and it's commonly associated with gastrointestinal and respiratory issues.
  • The case of a 38-year-old man illustrates how his diagnosis of CVID was delayed for 19 years due to overlooked symptoms like diarrhea and recurrent infections, which only led to testing after significant complications arose.
  • Serum protein electrophoresis (SPE) is an affordable and accessible test that can help identify CVID by detecting low gamma globulin levels, but it's often not used in the initial evaluation of patients with diarrhea or recurrent infections.

Article Abstract

Background: Common variable immunodeficiency (CVID) is a rare disease that affects children and adults and is often difficult to diagnose. Despite being one of the most frequent causes of immunodeficiency, involving gastrointestinal (GI), respiratory, and hematological systems, the disease onset can have heterogeneous and intermittent symptoms, frequently leading to diagnostic delay. GI symptoms are common and can include diarrhea, but the asymptomatic periods lead to overlooking the recurrent pattern. The same can occur with respiratory infections, thus delaying CVID suspicion. The starting point for CVID diagnosis is the decreased gamma globulin levels in serum protein electrophoresis (SPE), also observed through direct immunoglobulin's dosage.

Case Presentation: The patient is a 38 years-old man who had intermittent diarrhea and recurrent airway infections for 19 years, but the CVID diagnosis was achieved only after SPE was carried out. At that time, he was already malnourished, and developed other complications related to CVID in a short period.

Conclusions: SPE is readily available and inexpensive, but is not part of the laboratory approach in diarrhea. According to the case presented herein, it can be useful for patients with recurrent infections or other clues of the disease.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441081PMC
http://dx.doi.org/10.1186/s12876-022-02477-6DOI Listing

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