Hereditary angioedema with C1 inhibitor deficiency: clinical presentation and quality of life of 193 French patients.

BACKGROUND: Hereditary angioedema (HAE) is a rare and potentially life-threatening disease. New specific treatments are available. OBJECTIVE: To identify patients' features and patients' best therapeutic option. METHODS: A 1-year, multicenter, retrospective study was performed. The primary objective was to examine the clinical presentation of HAE. Secondary objectives included patient characteristics, management of HAE over 12 months, and health-related quality of life using the SF-36v2 questionnaire. RESULTS: One hundred ninety-three patients were included, and 69.4% were women. In the 12-month period, the mean number of HAE attacks was 7.6. Among the 568 reported attacks, localizations were the abdomen (57.1%), peripheral limbs (42.5%), upper airway (7.9%), and face (6.9%); 31.6% of attacks were severe and occurred statistically more often in women (P < .02). Compared with a population of allergic patients, all age- and sex-adjusted scores were significantly lower in patients with HAE (P < .05) except for the physical component summary. Health-related quality of life negatively correlated with the annual number of attacks and was markedly altered for patients having more than 5 attacks per year (P < .05 for all dimensions). CONCLUSION: HAE is a severe disease that places a heavy burden on quality of life.

Clinical impact of interlaboratory variation in international normalized ratio determinations.

Variation among laboratories and point-of-care (POC) devices in International Normalized Ratio (INR) determinations for individual patients in the same community was studied. For each patient, blood samples obtained from a single venipuncture followed by a finger stick were tested at three laboratories and with two POC devices. A nonparametric analysis of variance and regression analysis were used to compare INRs across sources. The potential clinical impact of differences between pairs of INR readings (i.e., whether a difference was likely to result in a change in therapy) was evaluated. Complete data were obtained and analyzed for 41 patients. Of the five sources of INRs, results from two laboratories and one POC device were significantly similar. Results from one laboratory and one POC device were significantly different from the other results. Variation between INR readings from two different sources might have resulted in a change in therapy 10-30% of the time. Variations occurred in INR readings among three laboratories and two POC devices and could have led to a substantial number of inappropriate changes in therapy.