Association Between Common Variable Immunodeficiency and Pulmonary Amyloidosis: Review

TL;DR

This paper reviews the rare but serious link between a common immune disorder and a rare amyloid condition, highlighting the importance of early detection and accurate diagnosis.

Contribution

The paper presents a unique case of pulmonary amyloidosis in a CVID patient and emphasizes the need for amyloid typing in such cases.

Findings

Fifteen cases of amyloidosis in CVID were identified, mostly AA type with multi-organ involvement.

Only one case of pulmonary amyloidosis was previously reported, and no AL type cases without plasma cell dyscrasia.

A CVID patient with AA amyloidosis progressed to systemic AL type, leading to a fatal outcome despite treatment.

Abstract

Background: Common variable immunodeficiency (CVID) is the most frequent symptomatic primary antibody deficiency, associated with recurrent infections, immune dysregulation, and non-infectious complications. Amyloidosis is a rare but severe complication with pulmonary involvement being exceptional. Objective: The aim of this study was to review reported cases of amyloidosis complicating CVID and present a unique case of pulmonary involvement. Methods: A literature research identified observational studies and case reports linking amyloidosis with CVID. Additionally, we describe a patient with CVID complicated by pulmonary and gastrointestinal amyloidosis. Results: Fifteen cases were identified, mostly amyloid A (AA) with multiple organ involvement. Only one case of pulmonary amyloidosis was reported. To date, no cases of pulmonary light-chain amyloidosis (AL) have been described in CVID patients without an underlying plasma cell dyscrasia. Our patient initially presented with AA amyloidosis but evolved to systemic AL type with rapid progression and fatal outcome despite therapy. Conclusions: Amyloidosis should be considered in CVID patients with atypical symptoms. Accurate amyloid typing is essential as treatment differs between AA and AL types. Early recognition may improve outcomes.

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