Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of vascular malformations (VMs). These result in chronic bleeding, acute hemorrhage, and complications from shunting through VMs. The goal of the Second International HHT Guidelines process was to develop evidence-based consensus guidelines for the management and prevention of HHT-related symptoms and complications. The guidelines were developed using the AGREE II (Appraisal of Guidelines for Research and Evaluation II) framework and GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. The guidelines expert panel included expert physicians (clinical and genetic) in HHT from 15 countries, guidelines methodologists, health care workers, health care administrators, patient advocacy representatives, and persons with HHT. During the preconference process, the expert panel generated clinically relevant questions in 6 priority topic areas. A systematic literature search was done in June 2019, and articles meeting a priori criteria were included to generate evidence tables, which were used as the basis for recommendation development. The expert panel subsequently convened during a guidelines conference to conduct a structured consensus process, during which recommendations reaching at least 80% consensus were discussed and approved. The expert panel generated and approved 6 new recommendations for each of the following 6 priority topic areas: epistaxis, gastrointestinal bleeding, anemia and iron deficiency, liver VMs, pediatric care, and pregnancy and delivery (36 total). The recommendations highlight new evidence in existing topics from the first International HHT Guidelines and provide guidance in 3 new areas: anemia, pediatrics, and pregnancy and delivery. These recommendations should facilitate implementation of key components of HHT care into clinical practice.

Fetal survival after umbilical cord prolapse for more than three days. A case report.

BACKGROUND: Umbilical cord prolapse is an uncommon obstetric emergency. CASE: A 28-year-old woman, gravida 1, para 0, presented at 23 2/7 weeks' gestation with vaginal leakage of fluid. She was diagnosed with umbilical cord prolapse. Due to the fetus's extreme prematurity, she was managed expectantly. On hospital day 4, we documented severe variable decelerations. After extensive counseling, the patient and her husband decided to deliver by cesarean section. The infant, a 505-g female, spent 54 days in the neonatal intensive care unit. At the eight-month follow-up examination, she was neurologically intact, with no long-term complications secondary to the prolapsed cord. CONCLUSION: To the authors' knowledge, this case entailed the longest reported interval from diagnosis of umbilical cord prolapse to delivery.