CHSJ

Curr Health Sci J, vol. 52, no. 3, 2026

Pulmonary Complications in Wiskott-Aldrich Syndrome

[Case Report]

G. PEREIRA FIGUEIREDO(1), L. CAMPANHA GARCIA(1), M.A. DURAN NARDOCCI(1), T.FERREIRA TAVARES(2), A. ANTUNES CETLIN(3)


(1)Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brasil;
(2)AFYA, Faculdade Porto Nacional, Brasil;
(3)Departamento de Pneumologia, Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brasil


Abstract:

Wiskott-Aldrich Syndrome (WAS) is a rare primary immunodeficiency that presents with thrombocytopenia, eczema, and recurrent respiratory infections, leading to severe pulmonary complications. This report describes the case of a 32-year-old man with the classic form of WAS who opted not to undergo hematopoietic stem cell transplantation. The patient developed bilateral bronchiectasis and subsequently an aspergilloma, presenting with recurrent, difficult-to-control hemoptysis. Due to severe thrombocytopenia and borderline pulmonary function, surgical resection was contraindicated. Following a multidisciplinary discussion, bronchial artery embolization was used as the primary measure for hemorrhage control, combined with antimicrobial and antifungal therapy. The case illustrates the complex therapeutic dilemma in managing the pulmonary sequelae of WAS in the context of advanced lung disease, highlighting the importance of a multidisciplinary approach for high-risk patients, as well as exposing the socioeconomic challenges faced by individuals with rare diseases.


Keywords: Wiskott-Aldrich Syndrome, hemoptysis, bronchiectasis, aspergillosis.



Corresponding: Andrea Antunes Cetlin, Department of Pulmonology, Hospital das Clinicas, Ribeirao Preto Medical School, University of Sao Paulo, Rua Tenente Catao Roxo, 3900-Vila Monte Alegre, Ribeirao Preto-SP, 14015-010, Brasil, e-mail: acetlin@fmrp.usp.br


DOI 10.12865/CHSJ.52.03.16 - Download PDF
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