Background Rare diseases (RD) are a diverse collection of more than 7–10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorders, the medical needs of RD patients are not well recognized or quantified in healthcare systems (HCS). Methodology We performed a pilot IDeaS study, where we attempted to quantify the number of RD patients and the direct medical costs of 14 representative RD within 4 different HCS databases and performed a preliminary analysis of the diagnostic journey for selected RD patients. Results The overall findings were notable for: (1) RD patients are difficult to quantify in HCS using ICD coding search criteria, which likely results in under-counting and under-estimation of their true impact to HCS; (2) per patient direct medical costs of RD are high, estimated to be around three–fivefold higher than age-matched controls; and (3) preliminary evidence shows that diagnostic journeys are likely prolonged in many patients, and may result in progressive, irreversible, and costly complications of their disease Conclusions The results of this small pilot suggest that RD have high medical burdens to patients and HCS, and collectively represent a major impact to the public health. Machine-learning strategies applied to HCS databases and medical records using sentinel disease and patient characteristics may hold promise for faster and more accurate diagnosis for many RD patients and should be explored to help address the high unmet medical needs of RD patients.
A 33-year-old man with left hip pain. Case 3A 67-year-old man with a right thigh mass.
Introduction: The incidence and persistence of cardiovascular events (CVES) occurring for the first time following COVID-19 is not completely established. Hypothesis: After COVID-19 there is an increased risk of new CVES that may persist several months after the acute infection. Methods: A retrospective claims analysis using the Symphony Health IDV, healthcare database of administrative medical and pharmacy claims for ~ 280 million lives in the USA. Patients with a claim for COVID-19 between April and June 2020 were identified and a sub cohort with new claims for CVES up to 12 months post COVID-19 was analyzed. Patients with prior history of CVES were excluded Results: 17,360 patients without prior history of CVES, age range 18-80 year (average: 55; SD: 16), 46% males and 54% females, experienced various CVES for the first-time post COVID-19. Specifically, a sub-cohort of 6,545 (38%) hospitalized patients experienced congestive heart failure (CHF) (18% ); myocardial infarction (MI) (36% ); stroke (54%);Arrythmias (54%); pulmonary embolism (15%) and peripheral arterial thrombosis (1%). Cardiomyopathy/myocarditis was reported in 253 patients. Of the new events, 25% of acute CHF, 46% of acute MI and 31% of acute stroke occurred within 28 days of hospitalization for COVID-19. The hazard of CVES peaked within 1 month from the onset of the infection and persisted up to 12 months after hospitalization. Highest residual risk factors were CHF, pericarditis, and myocarditis. Machine Learning analysis identified hypertension and COPD as strong predictors of new CVES post Covid-19. Conclusions: The occurrence of new CVES in survivors of COVID-19 is substantial. A deeper understanding of the biologic mechanisms triggering new cardiovascular disease after COVID-19 infection is needed to design interventions directed at preventing the incidence and persistence of new CVES post COVID-19 infection.
Introduction Classic congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder, usually due to a deficiency in the 21-hydroxylase enzyme, that results in impaired cortisol synthesis and excess androgen production. Recommended guidelines for management of CAH include assessment of androgen control by routine clinical investigations and patient examination for treating both disease-related and drug-related symptoms. The objective of this study was to identify treatment patterns in patients with classic CAH with reference to guideline-directed care in the United States (US). Methods A retrospective analysis of real-world data on patients with classic CAH was carried out using claims data between Oct 2012 and July 2020 (8 years) from the EVERSANA open claims database of 290 million US citizens. The initial cohort included patients with two or more CAH-related ICD 9/ICD 10 codes at least 28 days apart, and two or more oral glucocorticoids (GCs) prescribed at least 28 days apart within one year of CAH diagnosis. The final CAH cohort combined unique patients identified from two sub-cohorts based on GC adherence (sensitivity 1: patients with 60% proportion of days covered and sensitivity 2: patients with five or more GC prescriptions from date of diagnosis to end of study period or available data for that patient). Information on demographic and clinical characteristics, comorbidities, prescribed medications (including corticosteroids), procedures, and referrals were analysed. Results The final cohort included 11,765 patients (overall mean age 28.7 years) of which 36.9% (n=4,338) were pediatric (0-17 years of age; mean age 8.4 years) and 63.1% were adults (n=7,427; mean age 40.5 years). The majority of CAH patients (62%; n=7,260) reported hydrocortisone use, with a higher proportion of pediatric patients on hydrocortisone (96%; n=4,158) compared to adults (42%; n=3,102). Other frequently prescribed corticosteroids were prednisone (30% pediatric; 68% adults), fludrocortisone (65% pediatric; 34% adults), dexamethasone (25% pediatric; 50% adults), and methylprednisolone (6% pediatric; 43% adults). Among diagnostic procedures and labs, total testosterone (47% pediatric; 46% adults), thyroid stimulating hormone (29% pediatric; 55% adults), 17-hydroxyprogesterone (62% pediatric; 33% adults), androstenedione (55% pediatric; 20% adults), glycated hemoglobin (18% pediatric; 41% adults) and free thyroxine (23% pediatric; 36% adults) were most common. Furthermore, bone age studies were reported in 19% of pediatric patients (51% of pediatric CAH patient population). Only 44% of adult CAH patients and 34% of pediatric CAH patients visited an endocrinologist or pediatric endocrinologist between Oct 2012 and July 2020. Conclusions In line with guidelines, most pediatric patients received short-acting hydrocortisone. However, a large proportion of patients with classic CAH were not treated by an endocrinologist and did not receive guideline-recommended therapy or laboratory testing or bone age assessments, putting them at risk for poor disease control and GC-related adverse events. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
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