Document Detail

Hereditary angioedema: a family study.
MedLine Citation:
PMID:  16572743     Owner:  NLM     Status:  MEDLINE    
Hereditary angioedema (HAE) is a rare, life-threatening, autosomal dominant disease characterized by recurrent episodes of angioedema, and caused by a deficiency of the plasma protein C1-esterase inhibitor (C1-INH). Clinical manifestation of HAE may first develop during childhood but typically presents around puberty with nonpruritic and non-pitting edema of the subcutaneous and mucosal tissues. Up to now, there has been no published report of HAE case in Taiwan. We reported a 33 year-old female patient who had recurrent painful swelling of face and hands since 27 years of age. She first suffered from sudden onset of painful swelling of the eyelids and lips in August 1998 when she was pregnant for the first time. Subsequently, similar episodes recurred for a few times. Her blood test disclosed that her C3 and C4 were 125 mg/dl and 6 mg/dl, respectively. Her uncle died of laryngeal edema at the age of 30 years. Her father and elder brother also had the similar history of recurrent facial and hand swelling. The C4 levels of her elder brother were 6 mg/dl and 13.3 mg/dl on two separate occasions. The C1-INH antigen serum level and functional assay of the index patient and ten other family members were studied. A total of seven members of the family were confirmed to have type 1 HAE as evidenced by the low C4 and low C1-INH antigenic level and functional activity. Two of the seven cases were asymptomatic up to the date of our report.
Yao-Ting Huang; Yung-Zen Lin; Hsin-Lin Wu; Tin-Fang Chiu; Kun-Mei Lee; Hung-Ying Tsai; Sheng-Chun Yang; Fu-Yuan Huang
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Asian Pacific journal of allergy and immunology / launched by the Allergy and Immunology Society of Thailand     Volume:  23     ISSN:  0125-877X     ISO Abbreviation:  Asian Pac. J. Allergy Immunol.     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2006-03-31     Completed Date:  2006-09-01     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8402034     Medline TA:  Asian Pac J Allergy Immunol     Country:  Thailand    
Other Details:
Languages:  eng     Pagination:  227-33     Citation Subset:  IM    
Department of Pediatrics, Taipei City Hospital, Zhongxiao Branch, Taiwan.
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MeSH Terms
Angioedema / blood,  diagnosis*,  genetics*
Antigens / blood
Child, Preschool
Complement C1 Inhibitor Protein / immunology*
Complement C4 / deficiency*
Reg. No./Substance:
0/Antigens; 0/Complement C1 Inhibitor Protein; 0/Complement C4

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