title: Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling.
abstract: We describe a patient with hereditary angioedema (HAE), showing recurrent edema around the peripheral joints. Her symptoms began at the age of 18 with hand swelling distal to the wrist joints. Until she was referred to our hospital 3 years after her initial symptoms, she was still undiagnosed, although she was suspected of having rheumatoid arthritis. Laboratory examination showed reduced levels of CH50 and C4 with normal C3 levels. The C1 inhibitor (C1-INH) was decreased to 5 mg/ml, with remarkably reduced activity. Although these findings were compatible with a diagnosis of HAE, there were no episodes of skin edema in her family. To establish the diagnosis, we carried out DNA analysis of the C1-INH gene, which revealed a newly identified de novo mutation of G to A at nucleotide 16869 in exon 8. As described in this patient, localized edema around the peripheral joints may be the only manifestation of HAE. HAE should therefore be taken into consideration for the differential diagnosis of joint swelling.
authors.affiliation: First Department of Internal Medicine, Toyama Medical and Pharmaceutical University, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Sugiyama
authors.forename: T
authors.initials: T
authors.lastname: Ozawa
authors.forename: H
authors.initials: H
authors.lastname: Taki
authors.forename: M
authors.initials: M
authors.lastname: Maruyama
authors.forename: N
authors.initials: N
authors.lastname: Yamashita
authors.forename: M
authors.initials: M
authors.lastname: Ohta
authors.forename: M
authors.initials: M
authors.lastname: Hirata
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
mesh_terms: D000293:Adolescent; D000328:Adult; D000799:Angioedema / Q000235:genetics* / Q000473:pathology; D001172:Arthritis, Rheumatoid / Q000175:diagnosis; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn; D006225:Hand / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D014955:Wrist Joint / Q000473:pathology*
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein