Validation of a suspicion index to identify patients at risk for hereditary angioedema.

Background: Hereditary angioedema (HAE) is a genetic condition characterized by dysregulation of the contact (kallikrein-bradykinin) pathway, leading to recurrent episodes of angioedema.

Objective: This project sought to determine whether a suspicion index screening tool using electronic health record (EHR) data can identify patients with an increased likelihood of a diagnosis of HAE.

Methods: A suspicion index screening tool for HAE was created and validated by using known patients with HAE from the medical literature as well as positive and negative controls from HAE-focused centers.

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.

Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia.

Urticaria and Angioedema Across the Ages.

Chronic urticaria (CU) and angioedema can occur at any age. Although most CU with or without angioedema occurs in adults, it can also present in children or the elderly and can complicate pregnancy and breast-feeding. The presentations of CU and angioedema are different in children, middle-aged adults, and older patients as are the differential diagnoses.

Anxiety Contributes to Poorer Asthma Outcomes in Inner-City Black Adolescents.

Background: The factors associated with poor asthma control, exacerbations, and health care utilization in black adolescents are complex and not well understood. Although psychological comorbidities such as anxiety are common in patients with asthma, these have not been studied in this population.

Objective: This study characterized anxiety and associated asthma features in a cohort of black inner-city adolescents with persistent asthma and determined the association between anxiety symptoms, persistent uncontrolled asthma, and prospective health care utilization over 1 year.

Wells' syndrome presenting as a noninfectious bullous cellulitis in a child.

Wells' syndrome is a rare disease that is even more uncommon in childhood. This case report illustrates the potential devastating extent of the disease and highlights the unusual presentation of bullae in a child. It is imperative to consider Wells' syndrome in patients with presumed cellulitis and eosinophilia who fail to respond to antibiotics.