Molecular diagnosis and management of hereditary angioedema in a Greek family.
BACKGROUND
Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent angioedema episodes caused by a quantitative or functional defect of the plasma protein C1 esterase inhibitor (C1-INH). Relapsing skin swellings, abdominal pain attacks and upper airway obstruction constitute the typical clinical manifestations. The incidence and severity of angioedema attacks are highly variable among HAE patients.


METHODS
We report on 4 patients with HAE type I, members of the same family, originating from a Greek island. The patients, 2 males and 2 females (aged 8-45 years) suffer from recurrent edema episodes (1-2 attacks/month). Skin swellings at the extremities and the face, abdominal episodes and laryngeal edema are the classical clinical triad, with significant variation in the severity and frequency of symptoms among our patients. The new missense mutation in exon 2 of the C1-INH gene, c.1A>G; p.Met-22Val (p.Met1Val), in a heterozygous form was detected in all our patients. Acute and severe attacks are successfully treated with administration of C1-INH concentrate.


CONCLUSIONS
Variability of phenotypic expression of HAE was observed among the affected family members, despite carrying identical mutation of the C1-INH gene. Acute exacerbations of the disease are safely and effectively treated with C1-INH concentrate.
Papadopoulou-Alataki
Efimia
E
4th Department of Pediatrics, Aristotle University of Thessaloniki, General Regional Hospital Papageorgiou, Thessaloniki, Greece. efiala@otenet.gr
Foerster
Tanja
T
Antari
Vasiliki
V
Pavlitou-Tsiontsi
Aikaterini
A
Varlamis
Georgios
G
D000293:Adolescent; D000328:Adult; D054179:Angioedemas, Hereditary / Q000235:genetics*; D002648:Child; D050718:Complement C1 Inhibitor Protein / Q000235:genetics*; D005190:Family; D005260:Female; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype
D050718:Complement C1 Inhibitor Protein