Basic and clinical immunologyClinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema☆,☆☆
Section snippets
Case histories of affected individuals
The family originated from Southern Italy (Calabria). There was no known consanguinity. Several family members and their descendants now reside in Canada, and part of the family has remained in Italy. In all affected patients descriptions of nonerythematous, nonpruritic, nontender swelling were consistent with angioedema. No afflicted individual reported urticarial symptoms. Episodes of angioedema typically involved the face or extremities, but possible laryngeal edema with airway compromise
Results
A summary of the clinical presentation of female patients with known status are presented in Table I.
Pregnancy, Number of pregnancies associated with angioedema/totalPatient Pregnancy OC HRT GI A/W Affected patients I-1 12/12 0 0 ? + II-2 4/4 0 3/3 + + II-3 2/2 0 0 – – II-7 4/4 0 3/3 – – II-8 6/6 0 0 – + III-4 0/0 1/1 0 + – III-9 0/0 1/1 0 – – Unaffected patients III-1 0/2 0 0 NA NA III-3 0/0 0/1* 0 NA NA III-7 0/0 0/1* 0 NA NA III-10 0/1 0 0 NA NA III-12 0/1 0 0 NA NA III-13 0/2 0 0 NA NA *Prolonged use.
Discussion
Affected members of this kindred experience symptoms, including angioedema of the face and extremities, airway compromise, and episodes of abdominal pain and vomiting (presumably caused by angioedema of the gut), that are identical in every way to those found in currently recognized forms of HAE, except for their dependence on high estrogen levels. This condition is clearly distinct from a previously reported familial urticaria and angioedema seen in late pregnancy15 because our patients never
Acknowledgements
We thank Drs David Isenman and Julian Barrettara for their assistance with this study, Drs Eva Mocarski and Marsha Werb for assistance with patient care, Eryn Hiscock for preparation of the manuscript, and our patients for their participation.
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Supported in part by US Public Health Service grants No. HD22082 and HD337327 and the Allergy, Asthma, and Immunology Society of Ontario.
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Reprint requests: Karen E. Binkley, MD, FRCPC, 30 St Clair Ave W, Suite 201, Toronto, Ontario, Canada, M4V 3Al.