Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic.

Introduction: The COVID-19 pandemic has led to considerable changes in the health care system. Experts suggested that individuals protect themselves through social isolation during the pandemic, and consequently, the importance of telemedicine came to be understood for patients with chronic diseases. Telemedicine started to be used in developing countries where the appropriate infrastructure was lacking earlier. The present study investigates the level of satisfaction of patients with inherited metabolic disorders (IMDs) with telemedicine. Methods: This prospective study was conducted by making use of a new video appointment program that ensures the privacy of the patients in video-based consultations. The sociodemographic characteristics of the patients, their clinical status, their views on the telemedicine system, and their levels of satisfaction were questioned. Results: Overall, 174 patients were included in the study. The most common diagnoses were aminoacidopathies, lipid metabolism disorders, biotinidase deficiency, and lysosomal/peroxisomal diseases. More than half of the parents (67.6%) who lived in another city reported accommodation issues when coming to the hospital, and most believed telemedicine would save them time (93.1%) and money for travel (81.6%). The lack of laboratory and radiological tests (83.9%) was stated as the main disadvantage by most parents. Almost all the parents (96.6%) stated that they would opt for telemedicine if it became available in daily practice. The overall satisfaction rate was 94.6 (±10.1)/100. Conclusions: The present research is the most extensive cohort study to date assessing telemedicine in patients with IMDs and it highlights the importance of telemedicine, especially in developing countries during the COVID-19 pandemic.

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.

Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing with IMD patients, in view of its unpredictable consequences in these patients. There is limited data in literature on evaluating the impact and the outcome of COVID-19 infection in these patients. This cross-sectional retrospective study on a large cohort of unvaccinated IMD patients, reviewed the incidence of COVID-19 infection, disease manifestation and outcome during the pandemic between November 2019 and July 2021. In this cohort of 1058 patients, 11.7% (n = 124) were infected with COVID-19. Their median age was 16 years (age range 2-42); 57% (n = 71) were males. Post-exposure positive test was noted in 78% (n = 97) patients, while 19% (n = 24) had symptomatic diagnosis and three patients tested positive during pre-hospital visits screening. Most patients, 68.5% (n = 85) had mild COVID-19 related symptoms such as fever, cough, headache and diarrhea while 13.7% (n = 17) patients had no symptoms. Of twenty-two patients (17.7%) who required hospitalization, 16 were adults with various intoxication and energy metabolism disorders, who developed IMD related complications such as metabolic acidosis, hyperammonemia, acute pancreatitis, hypoglycemia, rhabdomyolysis and thrombosis. Ten patients needed intensive care management. The cohort death rate was 2.4% (3 patients). Overall, the clinical course of COVID-19 infection in these IMD patients was relatively mild except for patients with intoxication and energy metabolism disorders who had high risk of developing acute metabolic decompensation with severe complications.

One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN.

BACKGROUND: Since the beginning of the COVID-19 pandemic, MetabERN has been monitoring the SARS-CoV-2 infection rates within its metabolic community. To gather data on the total number of cases and the severity of symptoms among IMD patients one year into the pandemic, an online survey was distributed among all MetabERN healthcare providers (HCP). Epidemiological analysis was performed by integrating the survey's data with the MetabERN database. RESULTS: Survey's respondents reported a total of 452 cases of COVID-19 among their IMD patients (213 paediatric and 239 adults). Considering the total number of patients followed by the respondents (n = 26,347), the registered prevalence of COVID-19 in the IMD population was of 1716 × 100,000. Italy emerged as the most affected country (25.4% of cases), followed by the United Kingdom (14.2% of cases). Most of the paediatric cases of COVID-19 displayed no or mild symptoms during the disease: 34% of HCP reported having asymptomatic patients in 75-100% of cases, while 37.5% reported mild symptoms in about a quarter of their patients. Similarly to paediatric cases, most adult IMD patients with COVID-19 were asymptomatic or had mild symptoms: about one third of respondents reported 75-100% asymptomatic patients and about 65% of HCP had between 0 and 50% of patients with mild symptoms. The majority of the respondents reported no deaths due to COVID-19 in adult and paediatric patients with IMDs. CONCLUSIONS: Most of MetabERN's IMD patients who got COVID-19 during the first year of the pandemic had mild symptoms and a positive outcome of the disease. However, fatal events were recorded in paediatric patients; this, together with the lack of information on the long-term effects of COVID-19 in IMDs, call for caution in the metabolic population.

COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases-Organizational Challenges from the Point of View of Healthcare Providers.

COVID-19 pandemic is an organisational challenge for both healthcare providers and patients. People with rare inherited metabolic disorders (IMD) and rare autoinflammatory diseases (AD) are vulnerable patients whose well-being is deeply connected with regular follow-ups. This study aimed to assess how e one year of coronavirus pandemic has impacted the treatment of patients with IMD and AD in Poland. Surveys were distributed to all healthcare providers that coordinate the treatment of IMD and AD patients. Thirty-two responders (55%) answered the survey. They provide care to 1726 patients with IMD/AD, including 246 patients on dedicated treatment. In 35% of units, the regular appointments were disrupted, primarily because of patient infection. In 18 hospitals, remote visits were implemented, but only 66.6% of patients used this form of consultation. In 14/32 hospitals, administration of the therapy was delayed (median: 17.4 days). Forty-four patients suffered from SARS-COV-2 infection, in majority with mild symptoms. However, four adult patients developed complications, and one died following a SARS-COV-2 infection. Although most hospitals managed to maintain regular visits during the pandemic, more comprehensive implementation of telemedicine and switch to oral therapy or home infusions would be a reasonable solution for the current epidemic situation.

COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center.

Understanding the potential risks of patients with inherited metabolic disorder (IMD) exposed to the COVID-19 pandemic is an unmet need for those involved in their management. Here, we report on the incidence of COVID-19 in a cohort of patients with IMD treated at a children's hospital and compare them with a matched control group. Among the total number of 272 patients actively followed at a referral center, 19 (7%) tested positive for SARS-CoV-2 between March 2020 and March 2021. Their median age was 16.2 years (range 1.4-32.8 years). In two-thirds of the cases, the source of infection was a family member; 12/19 patients (63%) were asymptomatic, only one required hospitalization, and none of them died. In our single-center experience, COVID-19 had a moderate impact on a relatively large cohort of patients with IMD, including children and young adults. The clinical course was very mild in all but one case. The proportion of symptomatic cases and the clinical course were comparable in patients with IMD and in a group of matched, non-IMD COVID-19 controls from the general population.

The Use of Telemedicine and Other Strategies by Registered Dietitians for the Medical Nutrition Therapy of Patients With Inherited Metabolic Disorders During the COVID-19 Pandemic.

The clinical management of patients with inherited metabolic disorders (IMDs) includes medical nutrition therapy (MNT) by a registered dietitian (RD). We utilized an online quantitative and qualitative survey to characterize the practices of RDs treating patients with IMDs during the COVID-19 pandemic and to identify challenges and unmet needs. We received responses from 117 RDs. Results indicate that RDs are using alternate methods to engage this vulnerable population and provide MNT during the pandemic, including offering telemedicine appointments. Barriers to implementation of telemedicine include the limitations of virtual visits (inability to conduct physical exams and collect blood samples), time, patient knowledge of technology, audio problems, and patient access to internet, computers, or smartphones. RDs have addressed these barriers by extending prescriptions without a medical exam, relying on local facilities for blood draws, increasing the number of patients that use at-home filter papers for blood monitoring, and expanding the use of phone calls and emails. RDs identified patient education materials to facilitate telemedicine visits as a primary unmet need. Despite the reported barriers and limitations of telemedicine for MNT of IMDs, there was widespread satisfaction with the approach among RDs, with 96.9% reporting that they were somewhat or very satisfied with telemedicine. Although this survey focused on barriers, benefits of telemedicine for both RDs and patients were also reported. Identification of barriers and unmet needs can help clinics plan strategies to maximize telemedicine delivery models, to improve efficiency and patient outcomes, and to support sustained use of telemedicine post-pandemic.

Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study.

OBJECTIVES: There has been a recent worldwide outbreak of coronavirus disease (COVID-19). Most of the health system capacity has been directed to COVID-19 patients, and routine outpatient clinics have been suspended. Chronic disease patients, such as inherited metabolic disorders (IMD), have had trouble accessing healthcare services. METHODS: An online cross-sectional survey was conducted among patients with IMDs who were present for a follow-up at our clinic to address their problems during pandemic period. Our clinic's Instagram and Facebook accounts were used to invite the participants. Three reminders were given between May 1, 2020, and May 30, 2020. Survey questions were analyzed using descriptive statics. RESULTS: A total of 213 patients completed our survey. Incomplete surveys were excluded, and 175 questionnaires were evaluated. Most of patients had a special diet, and 51% of them had some difficulty with their diet. The reported rate of using a special treatment was 38%, and most of these patients (91%) had no problem receiving these special therapies during this time. Parents who were wearing masks while caring for their child were very few (17%), but a vast majority of parents (73.7%) had high handwashing rates. None of the patients had a SARS-COV2 infection until this paper was written. CONCLUSION: This is the first study that aims to determine the problems faced by patients with IMD during the COVID-19 period. Considering that the pandemic will not immediately pass, recognizing the problems faced by patients with chronic diseases and developing solutions would help these patients avoid long-term damage.

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.

Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data from 16 specialized medical centers treating IEM patients in Europe, Asia and Africa. The median decline of reported IEM related services in March 1st-May 31st 2020 compared to the same period in 2019 were as high as 60-80% with a profound impact on patient management and care for this vulnerable patient group. More representative data along with outcome data and guidelines for managing IEM disorders under such extraordinary circumstances are needed.

Chinese expert brief consensus on newborn screening of inherited metabolic disorders during the novel coronavirus infection epidemic.

Novel coronavirus (2019-nCov) infection (COVID-19) rapidly spread across China and 25 countries in the worldwide, which infected not only adults but also children, even neonates. Each year, about 15 million newborns are delivered in China. Newborn screening (NBS) helps effectively prevent some mental retardation, premature death, and adverse outcomes in the early stage of baby, which could detect some inherited metabolic disorders (IMDs). During this COVID-19 epidemic, how to balance the risk of infected 2019-nCov and the risk of disability and teratogenesis of IMDs. Expert members of NBS extra quality assessment in National Clinical Center of Laboratory (NCCL) give a brief consensus for NBS of IMDs in the COVID-2019 epidemic, hoping that the brief consensus could be reference for NBS of IMDs in the other epidemic areas or periods all over the world.