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Updated: Aug 20, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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[Common variable immune deficiency complicated by amyloidosis: a case report].

Ibtissam Jbara1, Sophia Bouamama1, Fouad Haddad1

  • 1Service d'Hépato-Gastro-Entérologie, Hôpital Ibn Rochd, Casablanca, Maroc.

The Pan African Medical Journal
|November 21, 2022
PubMed
Summary

Common variable immune deficiency (CVID), a rare but common adult immunodeficiency, can present with severe gastrointestinal issues. This case highlights CVID complicated by systemic AA amyloidosis, emphasizing early diagnosis for treatment-resistant symptoms.

Keywords:
Common variable immune deficiencyamyloidosisbronchiectasiscase reportgranuloma

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Area of Science:

  • Immunology
  • Gastroenterology
  • Pathology

Background:

  • Common variable immune deficiency (CVID) is the most frequent symptomatic primary immunodeficiency in adults, characterized by significant clinical heterogeneity.
  • Despite its prevalence among immunodeficiencies, CVID is considered a rare condition.
  • The diagnosis often involves recognizing a broad spectrum of clinical manifestations.

Observation:

  • A 39-year-old patient presented with chronic diarrhea and an anal fistula, indicative of gastrointestinal distress.
  • Laboratory findings revealed an inflammatory and malabsorption syndrome, hypogammaglobulinemia, and lymphopenia.
  • These clinical and laboratory features led to the diagnosis of CVID.

Findings:

  • The patient was diagnosed with common variable immune deficiency (CVID).
  • Further investigation revealed systemic AA amyloidosis, confirmed by amyloid deposits in biopsy samples.
  • This indicates a severe complication of the underlying immune deficiency.

Implications:

  • This case underscores the critical importance of considering immune deficiencies, such as CVID, in patients with persistent gastrointestinal symptoms.
  • Gastrointestinal manifestations can be the primary presentation of CVID, necessitating thorough diagnostic evaluation.
  • Early suspicion and diagnosis of CVID are crucial for managing complications like systemic amyloidosis and improving patient outcomes.