Sugiyama E, Ozawa T, Taki H, Maruyama M, Yamashita N, Ohta M, Hirata M, Kobayashi M
First Department of Internal Medicine, Toyama Medical and Pharmaceutical University, Japan.
Arthritis Rheum. 2001 Apr;44(4):974-7. doi: 10.1002/1529-0131(200104)44:4<974::AID-ANR155>3.0.CO;2-1.
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.
我们描述了一名患有遗传性血管性水肿（HAE）的患者，其外周关节周围反复出现水肿。她的症状始于18岁，表现为腕关节远端手部肿胀。在最初症状出现3年后转诊至我院时，尽管怀疑患有类风湿关节炎，但仍未确诊。实验室检查显示CH50和C4水平降低，C3水平正常。C1抑制剂（C1-INH）降至5mg/ml，活性显著降低。尽管这些发现与HAE的诊断相符，但她的家族中没有皮肤水肿发作的情况。为明确诊断，我们对C1-INH基因进行了DNA分析，结果显示外显子8中第16869位核苷酸处新发现了一个由G到A的新生突变。如该患者所述，外周关节周围的局限性水肿可能是HAE的唯一表现。因此，在鉴别诊断关节肿胀时应考虑HAE。
