Familial eosinophilic granulomatosis with polyangiitis in a mother and daughter

Area of Science:

• Rheumatology
• Pulmonology
• Genetics

Background:

• Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitis characterized by asthma, eosinophilia, and multi-organ involvement.
• Familial occurrence of EGPA is exceptionally rare, with limited documented cases.

Observation:

• A 17-year-old female presented with weight loss, dyspnea, arthralgia, and sinusitis, alongside a history of bronchial asthma requiring systemic steroids.
• Her mother had a history of EGPA, and the patient exhibited marked eosinophilia and elevated erythrocyte sedimentation rate.
• Peripheral antineutrophil cytoplasmic antibodies were negative, but lung biopsy confirmed EGPA.

Findings:

• The patient was successfully treated with methylprednisolone, leading to normalization of eosinophil counts and clinical improvement.
• This case, along with her mother's history, represents the second reported instance of familial EGPA.
• No specific genetic factors were identified as influencing susceptibility in this case.

Implications:

• The case highlights the importance of considering EGPA in adolescents with severe, uncontrolled asthma and eosinophilia, especially with a positive family history.
• Early diagnosis and treatment of EGPA are crucial for managing this rare autoimmune condition.
• Further research into the potential genetic or environmental factors contributing to familial EGPA may be warranted.