Is there a need for clinical guidelines in the United States for the diagnosis of hereditary angioedema and the screening of family members of affected patients?
ABSTRACT Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor (C1 INH) protein or function. Guidelines do not exist regarding diagnostic criteria or routine testing of family members of patients with HAE. Laboratory data for diagnosis include complement factor 4 level; C1 INH antigenic protein level, which is reduced in approximately 85% of patients with HAE; and C1 INH functional assay, which is considered an unreliable test in the United States secondary to inconsistent standardization of assays.
To assess the shortcomings of diagnosing HAE and to determine whether family members of patients with HAE are being adequately screened.
The top physician prescribers of danazol in the United States were screened via an Internet questionnaire focusing on the diagnosis and current management of HAE. To assess the patient perspective on HAE, affected individuals in the United States, the United Kingdom, France, Germany, and The Netherlands participated in the Web-based International Survey of Patient Experience of Hereditary Angioedema.
All 80 physicians who completed the survey were allergist or immunologists with a mean of 7 patients with C1 INH deficiency in their practices. Almost 84% of physician respondents used C1 INH level and function for diagnosis, and 63.8% used complement factor 4 levels. A total of 313 patients with HAE completed the survey. Respondents noted that only 48% of immediate family members and 26% of extended family members had been tested.
Guidelines could potentially alleviate delays in diagnosis and incorrect diagnoses and could lead to adequate screening of family members.
Full-textDOI: · Available from: Timothy J Craig, Aug 23, 2015
Conference Paper: HBT SiGe technology dedicated to ultra low phase noise applications[Show abstract] [Hide abstract]
ABSTRACT: This paper presents a SiGe HBT technology featuring high attractive performances devices both in terms of microwave behavior (fmax higher than 40 GHz) and low-frequency noise (1/f corner noise frequency lower than 300 Hz), through both an appropriate technology and passivation process. SiGe HBTs successfully used for the realization of ultra low phase noise microwave oscillators featuring -135 dBc/Hz at 10 kHz offsetHigh Performance Electron Devices for Microwave and Optoelectronic Applications, 1997. EDMO. 1997 Workshop on; 12/1997
- Molecular Immunology 09/2007; 44(16):3963-3964. DOI:10.1016/j.molimm.2007.06.128 · 3.00 Impact Factor
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ABSTRACT: Hereditary angioedema (HAE) caused by C1-esterase inhibitor deficiency is an autosomal-dominant disease resulting from a mutation in the C1-inhibitor gene. HAE is characterized by recurrent attacks of intense, massive, localized subcutaneous edema involving the extremities, genitalia, face, or trunk, or submucosal edema of upper airway or bowels. These symptoms may be disabling, have a dramatic impact on quality of life, and can be life-threatening when affecting the upper airways. Because the manifestations and severity of HAE are highly variable and unpredictable, patients need individualized care to reduce the burden of HAE on daily life. Although effective therapy for the treatment of HAE attacks has been available in many countries for more than 30 years, until recently, there were no agents approved in the United States to treat HAE acutely. Therefore, prophylactic therapy is an integral part of HAE treatment in the United States and for selected patients worldwide. Routine long-term prophylaxis with either attenuated androgens or C1-esterase inhibitor has been shown to reduce the frequency and severity of HAE attacks. Therapy with attenuated androgens, a mainstay of treatment in the past, has been marked by concern about potential adverse effects. C1-esterase inhibitor works directly on the complement and contact plasma cascades to reduce bradykinin release, which is the primary pathologic mechanism in HAE. Different approaches to long-term prophylactic therapy can be used to successfully manage HAE when tailored to meet the needs of the individual patient.World Allergy Organization Journal 01/2011; 4(2):S9-S21. DOI:10.1097/WOX.0b013e31821359a2