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Hereditary angioedema: a family study.
Yao-Ting Huang1, Yung-Zen Lin, Hsin-Lin Wu
1Department of Pediatrics, Taipei City Hospital, Zhongxiao Branch, Taiwan.
Asian Pacific Journal of Allergy and Immunology
|April 1, 2006
Summary
Hereditary angioedema (HAE), a rare genetic disorder, was identified in a Taiwanese family due to C1-esterase inhibitor deficiency. This case highlights the importance of diagnosing HAE in regions with no prior reported instances.
Area of Science:
- Genetics
- Immunology
- Rare Diseases
Background:
- Hereditary angioedema (HAE) is a rare autosomal dominant disorder caused by C1-esterase inhibitor (C1-INH) deficiency, leading to recurrent swelling.
- Clinical HAE presentation often begins in childhood or around puberty, affecting subcutaneous and mucosal tissues.
Observation:
- A 33-year-old Taiwanese female presented with recurrent facial and hand swelling, a condition noted since age 27.
- Her family history revealed similar symptoms in her father and elder brother, and a paternal uncle died from laryngeal edema.
- Initial laboratory tests showed low C4 levels (6 mg/dl) in the patient, with her brother also exhibiting low C4 levels.
Findings:
- A comprehensive study of the index patient and ten family members confirmed seven cases of type 1 HAE.
- Diagnosis was based on low serum C1-esterase inhibitor (C1-INH) antigen levels and reduced functional activity, alongside low C4 levels.
- Two of the seven diagnosed family members were asymptomatic at the time of reporting.
Implications:
- This report marks the first documented case of Hereditary Angioedema in Taiwan, expanding the known geographical distribution of the disease.
- Early diagnosis and genetic counseling are crucial for families with a history of HAE, enabling timely management and potentially preventing life-threatening episodes.
- The identification of asymptomatic carriers underscores the need for thorough genetic screening within affected families to understand disease prevalence and management strategies.