Hereditary angioedema (HAE) is a rare bradykinin-mediated disease that is characterized by recurrent attacks of subcutaneous or submucosal edema, which can be life threatening. HAE affects all ethnic groups equally and does not differentiate between age, sex, or race. However, the availability of therapies varies amongst countries resulting in a lack of uniformity of care. Not only is there a disparity of medication availability, but since HAE is a rare disease, it is frequently overlooked and the diagnosis is missed. Even with diagnosis, treatment and management is often less than optimal. For these reasons, it is essential to have practice parameters and guidelines. In this chapter, we focus on recent guidelines. These guidelines deal with recognition, diagnosis, medical care, patient management, and assessment, all which are essential to provide optimal care to people with a rare and orphan disease. The intent of the guidelines, and thus this chapter, is to reduce morbidity and mortality, and restore a normal quality of life for the patient with HAE. We will review the guidelines from various regions of the world as well as international group recommendations. In addition, specific patient populations such as the pregnant, elderly, and juvenile require modified treatment regimens, and for this reason, we have included these data as well. The intent of this chapter is to aid the practitioner in holistic care of the patient with HAE in order to ultimately provide the best standard of care possible.
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator (AIRE) gene. Individuals affected with APECED develop a clinical syndrome characterized by ectodermal abnormalities, autoantibody production, and organ-specific autoimmune manifestations. Inflammatory arthritis is usually not described as a part of the syndrome, and only sporadic cases are reported. We describe the case of a preschool-age girl who presented with hypoparathyroidism, hepatitis, interstitial pneumonitis, and chronic polyarthritis at 4 years of age and was found to have two compound heterozygous disease-associated mutations in the AIRE gene. We also conducted a literature review of the main characteristics of inflammatory arthritis in APECED patients. Our case and review demonstrate that (1) inflammatory arthritis, although rare, can be an early manifestation of APECED; (2) the diagnosis of APECED should be considered if mucocutaneous candidiasis, multiple organ-specific autoimmune manifestations, polyendocrinopathy, especially hypoparathyroidism or adrenal failure, or ectodermal dystrophy accompany joint symptoms; and (3) genotyping interpretation should take into account that mutations are found in the 14 exons of the gene, compound heterozygosity is common, and in some cases, only one or no mutated alleles are found.
RATIONALE: We hypothesized that distinct subgroups exist within eosinophilic asthmatics that might explain the disparate observations that some eosinophilic asthmatics have severe disease and poor treatment responses, while others respond well to glucocorticoids. METHODS: After IRB approval, a retrospective analysis of 224 asthmatics was performed to identify eosinophilic asthmatics (blood eosinophil >200 cells/microliter). A cluster analysis was performed using the following parameters: blood eosinophil level, total serum IgE, number of aeroallergen sensitivities (skin prick testing or serum ImmunoCAP to 18 relevant aeroallergens), spirometry, daily inhaled corticosteroid (ICS) dose, number of controller medications, age, BMI, and gender. ANOVA with Tukey adjustment for multiple comparisons was performed (significance, p<0.05) to analyze differences in clinical parameters between the clusters. RESULTS: Eosinophilic asthmatics comprised 50.4% of asthmatics (113/ 224). Cluster analysis revealed 3 main eosinophilic clusters (CL1, CL2, CL3). Eosinophil levels (mean6SD) were not significantly different between clusters -CL1:
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