[A case of hereditary angioneurotic edema associated with systemic lupus erythematosus].
A 33-year-old woman noticed recurrent and sudden attacks of subcutaneous swelling of the extremities and face since the age of 4 years. Sometimes the attacks involved colicky abdominal pain. Her mother and younger sister had episodes of recurrent swelling of the extremities as well. Complement studies revealed low CH50, C1q, C4, and C1 inhibitor levels, with normal C3 and C5 levels. Similar reductions of CH50 C4 and C1 inhibitor levels were observed in her mother, older, and younger sisters. Therefore, she was diagnosed as hereditary angioneurotic edema. In addition, she was diagnosed as having a butterfly rash at the age of 20 years and had a history of solar sensitivity. Histologically the facial lesion showed liquefaction degeneration of the basal cell layer. Direct immunofluorescent staining of the affected skin lesion showed basement membrane-zone staining of IgG and IgM. Laboratory studies revealed lymphopenia and positive ANF. On the basis of the above findings, hereditary angioneurotic edema associated with systemic lupus erythematosus was diagnosed.
Horiuchi
S
S
Baba
T
T
Uyeno
K
K
Shiraishi
S
S
D000328:Adult; D000799:Angioedema / Q000150:complications* / Q000235:genetics; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency; D015922:Complement C1q / Q000172:deficiency; D003181:Complement C4 / Q000172:deficiency; D015941:Complement Hemolytic Activity Assay; D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000209:etiology*
D003174:Complement C1 Inactivator Proteins; D003181:Complement C4; D015922:Complement C1q