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Surgical Pathology Criteria
http://surgpathcriteria.stanford.edu/

Common Variable Immunodeficiency – GI Involvement

Definition

  • Gastrointestinal changes associated with common variable immunodeficiency

Alternate/Historical Names

  • Acquired hypogammaglobulinemia
  • Adult-onset hypogammaglobulinemia
  • Dysgammaglobulinemia

Diagnostic Criteria

  • Markedly decreased plasma cells in 67% of cases
  • Prominent lymphoid aggregates in 50-80% of cases
    • Most common in large intestine
    • Predominantly B cells in aggregates
  • Single cell necrosis and increased apoptosis in 10-50% of cases
    • Most prominent in large intestine
  • Increased intraepithelial lymphocytes in 20-60% of cases
    • Most prominent in stomach and small intestine
    • Predominantly T cells
  • Variable degrees of villous blunting in most small intestinal specimens that have increased intraepithelial lymphocytes
  • Variable crypt distortion in 47% of colon specimens
  • Non-caseating granulomas in 20% of large intestine cases
    • Seen rarely in other sites
  • Features of collagenous colitis seen in 12% of large intestine cases
  • Intraepithelial neutrophils predominantly associated with infectious organisms
  • Frequent GI infections
    • Stomach and intestines
      • Giardia
      • Salmonella
      • Campylobacter
      • Cryptosporidium
      • Cytomegalovirus
    • Esophagus
      • Candida

    Robert V Rouse MD
    Department of Pathology
    Stanford University School of Medicine
    Stanford CA 94305-5342

    Original posting : November 12, 2009

 

Differential Diagnosis

Graft Versus Host Disease

  • The gastrointestinal findings in common variable immunodeficiency may be histologically indistinguishable from graft versus host disease
    • They are easily distinguished by a history of transplantation in the latter

Tropical Sprue

  • Confined to tropics
  • Responds to anti-microbial therapy
  • Plasma cells are present

Prolonged Post-enteritis Syndrome

  • Preceding viral or bacterial gastroenteritis

Autoimmune Enteropathy Common Variable Immunodeficiency – GI Involvement
Numerous plasma cells Plasma cells frequently markedly decreased
Diffuse infiltrate primarily composed of T lymphocytes Prominent nodular lymphoid hyperplasia
Prominent villous atrophy Villous atrophy may be mild to severe
Prominent crypt destruction Crypt destruction not prominent
Anti-enterocyte antibody All antibodies generally depressed; humoral testing is not reliable in CVID
The two entities may be histologically indistinguishable.
For pediatric autoimmune enteropathy with associated polyendocrinopathy see IPEX syndrome.

Food Protein Enteropathy Common Variable Immunodeficiency – GI Involvement
Numerous plasma cells Plasma cells frequently markedly decreased
Predominantly eosinophilic infiltrate Nodular lymphoid hyperplasia
Frequent associated allergy or atopy No association with other allergies or atopy
Resolved by elimination of offending food from diet Not related to diet

Crohn Disease Common Variable Immunodeficiency – GI Involvement
Skip lesions predominate Usually diffuse
Transmural inflammation Mild lamina propria infiltrate with nodular lymphoid hyperplasia
Numerous plasma cells Plasma cells frequently markedly decreased
Deep fissures frequent No fissures or deep ulcers

 

Clinical

  • Most patients present in 20’s or 30’s
  • 10-25% familial, usually autosomal dominant (Park)
    • Some autosomal recessive gene defects have also been identified
  • 50% risk of carcinoma or lymphoma
  • Recurrent upper and lower respiratory tract infections

 

Bibliography

  • Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. Common variable immunodeficiency: a new look at an old disease. Lancet. 2008 Aug 9;372(9637):489-502.
  • Daniels JA, Lederman HM, Maitra A, Montgomery EA. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol. 2007 Dec;31(12):1800-12.
  • Oksenhendler E, Gérard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R, Viallard JF, Gardembas M, Galicier L, Schleinitz N, Suarez F, Soulas-Sprauel P, Hachulla E, Jaccard A, Gardeur A, Théodorou I, Rabian C, Debré P; DEFI Study Group. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis. 2008 May 15;46(10):1547-54.
  • Washington K, Stenzel TT, Buckley RH, Gottfried MR. Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. Am J Surg Pathol. 1996 Oct;20(10):1240-52.
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