Beneficial Effects of Remote Medical Care for Patients with Hereditary Hemorrhagic Telangiectasia during the COVID-19 Pandemic.

Eleonora Gaetani,Giuseppe Marano,Roberto Pola,Denis Occhipinti,Luigi Di Martino,Giulio Cesare Passali,Mariaconsiglia Santantonio,Fabiana Agostini,Marianna Mazza,On Behalf Of The Multidisciplinary Gemelli Group For Hht Hht

doi:10.3390/jcm10112311

Abstract

Background: Hereditary hemorrhagic telangiectasia (HHT) needs high-quality care and multidisciplinary management. During the COVID-19 pandemic, most non-urgent clinical activities for HHT outpatients were suspended. We conducted an analytical observational cohort study to evaluate whether medical and psychological support, provided through remote consultation during the COVID-19 pandemic, could reduce the complications of HHT. Methods: A structured regimen of remote consultations, conducted by either video-calls, telephone calls, or e-mails, was provided by a multidisciplinary group of physicians to a set of patients of our HHT center. The outcomes considered were: number of emergency room visits/hospitalizations, need of blood transfusions, need of iron supplementation, worsening of epistaxis, and psychological status. Results: The study included 45 patients who received remote assistance for a total of eight months. During this period, 9 patients required emergency room visits, 6 needed blood transfusions, and 24 needed iron supplementation. This was not different from what was registered among the same 45 patients in the same period of the previous year. Remote care also resulted in better management of epistaxis and improved quality of life, with the mean epistaxis severity score and the Euro-Quality of Life-Visual Analogue Scale that were significantly better at the end than at the beginning of the study. Discussion: Remote medical care might be a valid support for HHT subjects during periods of suspended outpatient surveillance, like the COVID-19 pandemic.

Highlights

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inheritable rare disease, characterized by the presence of multiple arteriovenous malformations (AVMs), leading to a wide variety of clinical manifestations, such us spontaneous and recurrent epistaxis, gastrointestinal bleeding, cerebral abscess or stroke due to paradoxical embolism from pulmonary AVMs, and intracerebral hemorrhage [1,2]
There were 17 patients with pulmonary AVMs, 15 patients with hepatic AVMs, and 4 patients with cerebral vascular malformations; thirteen patients had history of gastrointestinal bleeding
Genetic tests were available for 37 patients: pathogenic mutations of the ENG gene were present in 9 patients, while pathogenic mutations of the ACVRL1 gene were present in 27 patients

Summary

Introduction

Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inheritable rare disease, characterized by the presence of multiple arteriovenous malformations (AVMs), leading to a wide variety of clinical manifestations, such us spontaneous and recurrent epistaxis, gastrointestinal bleeding, cerebral abscess or stroke due to paradoxical embolism from pulmonary AVMs, and intracerebral hemorrhage [1,2]. As with many other rare diseases, patients with HHT often experience life-long disability, life-threatening conditions, and a severely impacted quality of life [3,4] They require many different types of medical services, including emergency rooms visits, urgent laboratory tests, blood transfusions, specific therapies, and psychological support. They need high-quality care and careful multidisciplinary follow-up and management [5]. Results: The study included 45 patients who received remote assistance for a total of eight months During this period, 9 patients required emergency room visits, 6 needed blood transfusions, and 24 needed iron supplementation. Discussion: Remote medical care might be a valid support for HHT subjects during periods of suspended outpatient surveillance, like the COVID-19 pandemic

Methods

Results

Conclusion