Hereditary hemorrhagic telangiectasia is an inherited disease related to an alteration in angiogenesis, manifesting as cutaneous telangiectasias and epistaxis. As complications, it presents vascular malformations in organs such as the lung, liver, digestive tract, and brain. Currently, diagnosis can be made using the Curaçao criteria or by identifying the affected gene. In recent years, there has been an advance in the understanding of the pathophysiology of the disease, which has allowed the use of new therapeutic strategies to improve the quality of life of patients. This article reviews some of the main and most current evidence on the pathophysiology, clinical manifestations, diagnostic approach, screening for complications, and therapeutic options, both pharmacological and surgical.

Geographically dispersed patients, inconsistent treatment tracking, and limited infrastructure slow research for many orphan diseases. We assess the feasibility of a patient-powered study design to overcome these challenges for Castleman disease, a rare hematologic disorder. Here, we report initial results from the ACCELERATE natural history registry. ACCELERATE includes a traditional physician-reported arm and a patient-powered arm, which enables patients to directly contribute medical data and biospecimens. This study design enables successful enrollment, with the 5-year minimum enrollment goal being met in 2 years. A median of 683 clinical, laboratory, and imaging data elements are captured per patient in the patient-powered arm compared with 37 in the physician-reported arm. These data reveal subgrouping characteristics, identify off-label treatments, support treatment guidelines, and are used in 17 clinical and translational studies. This feasibility study demonstrates that the direct-to-patient design is effective for collecting natural history data and biospecimens, tracking therapies, and providing critical research infrastructure.

Correspondence from The New England Journal of Medicine — Lead-Contaminated Heroin as a Source of Inorganic-Lead Intoxication

Castleman disease (CD) represents a heterogeneous group of lymphoproliferative disorders that share well-defined histopathological features. An observational study of patients with CD was conducted. A total of 53 patients had CD: 20 had the unicentric form (UCD) and 33 the multicentric (MCD) variant; 10 of the latter cases were infected with human herpesvirus-8 (HHV-8) and 23 were idiopathic (iMCD). Median age differed between UCD and iMCD (30 vs. 49 years, p = .004). Males were completely predominant in HHV-8-associated MCD (100%), and females were more frequent in UCD (75 vs. 48%, p = .06). Relapses were more frequent in iMCD (57 vs. 10% UCD, p = .002), and mortality was significantly higher in iMCD and the HHV-8-associated form with respect to UCD. We conclude that UCD is a benign disorder of younger ages and female predominance, while iMCD represents a different entity with more disease relapses and higher mortality.