Evaluation of awareness about primary immunodeficiencies among physicians before and after implementation of the educational program: A longitudinal study

Abstract

Increasing physicians' awareness is one of the main ways to improve early diagnosis of rare diseases. A survey among physicians of different specialties to evaluate the knowledge about primary immunodeficiencies (PID) was conducted in 2016 and in 2019 -before and after the implementation of an educational program. We compare responses from 82 doctors who participated in the 2016 survey, and 67 doctors who have taken part in the survey in 2019: pediatricians, general practitioners / family physicians and physicians of pediatric sub specialties. The percentage of correct answers to all survey questions after the implementation of the educational program has significantly increased (79.0% in 2019 versus 58.3% in 2016, P<0.0001). This increase in the percentage of correct answers was noted among the surveyed doctors of all specialties. Particular progress was found among pediatricians, who have achieved more than 80% of correct answers. In 2019 the doctors demonstrated better knowledge on the warning signs of PID and specific features of Nijmegen breakage syndrome, DiGeorge syndrome and ataxia-telangiectasia syndrome. Thus, the implementation of an educational program improved physicians' awareness of PIDs, and will contribute to early detection of PIDs and their medical care.

Detection of neutralizing anti–severe acute respiratory syndrome coronavirus 2 antibodies in patients with common variable immunodeficiency after immunization with messenger RNA vaccines

“…CVID patients, however, may not be included into vaccination programs because of the common perception that they are not responsive to vaccination 1 . In countries like Italy, where general practitioners are in charge of the recruitment of “fragile” patients into vaccination programs, it is paramount to address the issue of the effectiveness of COVID-19 vaccines in primary immunodeficiency patients, also considering the low awareness about this peculiar group of diseases among physicians not specializing in clinical immunology 3 .…”

A rare case of pigmented cutaneous malignant melanoma of the vulva

“…Adequate prevention of recurrent infections, avoidance of ionizing radiation are promising factors in terms of improving both life quality and expectancy of children with DNA repair disorder. The analysis of doctors, students, and postgraduate students' awareness revealed low knowledge about diagnostic algorithm in newborn microcephaly and lack of alertness for the detrimental effect of ionizing radiation in these syndromes 14,15,27 . Improvement of the doctors' awareness is expected to contribute to timely diagnosis and prevention of severe complications 8,28 .…”

“…Knowledge of the early clinical manifestations and the course of PIDs associated with disorders of DNA repair is essential for both primary care physicians and physicians of narrow specialties, for a timely diagnosis and prevention of severe complications of these diseases [14][15] , because the radiation exposure of the children with PID, including X-ray examination methods, should be limited. Magnetic resonance imaging (MRI) should be preferred.…”

Benefits, challenges and prospects of newborn screening for primary immunodeficiency

“…Auxiliary diagnosis of a number of diseases using the TREC/ KREC assay has its positive sides, as a number of immunodeficiencies may manifest in the second -third year of life. Low awareness of physicians regarding PID, vagueness of the onset of clinical symptoms lead to a late diagnosis of PID, which can have certain negative consequences and worsen the quality of life [34][35][36] . At the same time, the early diagnosis of PIDs such as A-T, NBS, DGS, DOCK8 deficiency can have advantages, as it will allow proper preventive measures.…”