[Two cases of C1INH deficiency with paroxysmal abdominal pain].
We encountered two cases of C1 inhibitor deficiency (26-year-old man and 29-year-old woman). They had been suffering from paroxysmal abdominal pain for many years. Imaging studies showed wall thickening of the intestine and ascites and diagnosis was difficult. Decreased serum levels of C4 and C1INH activity indicated a diagnosis of C1INH deficiency. Although C1INH deficiency is rare, it should be considered as a differential diagnosis in young patients with paroxysmal abdominal pain.
Takamura
Kazuto
K
Department of Internal Medicine, Fukushima Co-op Hospital.
Arai
Keiko
K
Otsu
Naoya
N
D015746:Abdominal Pain / Q000209:etiology*; D000328:Adult; D000799:Angioedema / Q000175:diagnosis*; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency*; D015922:Complement C1q / Q000032:analysis; D015941:Complement Hemolytic Activity Assay; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male
D003174:Complement C1 Inactivator Proteins; D015922:Complement C1q