were used to estimate the age-adjusted national prevalence of diagnosed HCU and PKU patients. RESULTS: Among 97.3 million patients in the MSN, 6,613 (0.068 per 1,000) had a diagnosis of HCU between 1/1/2010 and 12/31/2016, compared to 5,120 (0.053 per 1,000) with a PKU diagnosis. Of the HCU cases, 0.51% were ages 0e11 years and 80% were 45 years or older at the time of the first recorded diagnosis during the study period. For PKU cases, 53% were ages 0e11 years and 13% were 45 years or older. The estimated age-adjusted prevalence of diagnosed HCU in the US for 2017 was~0.01% (31,162 cases) vs. 0.005% (16,615 cases) for PKU. CONCLUSIONS: As expected, the highest proportion of diagnosed PKU was observed in the youngest age group (ages 0e11 years), likely due to infants being diagnosed through mandatory newborn screening. Conversely, the proportion of diagnosed HCU cases in the younger age group was approximately ten times smaller, implying that HCU patients are not diagnosed primarily at birth or during early childhood. This suggests that current newborn screening tests fail to capture the vast majority of HCU cases, with patients diagnosed at later ages, even into adulthood, when they present with symptoms or comorbid conditions indicative of HCU.OBJECTIVES: Approximately 1 in 200,000e335,000 people worldwide have homocystinuria (HCU) but it may be underdiagnosed. We examined incidence and prevalence of homocysteine (tHcy) testing and the frequency of tHcy levels >30 mmoles/L. METHODS: In the MarketScan© Lab Database (MSN), we identified commercially insured patients with claims for a tHcy test (1/1/2006e3/31/2016). Frequency of elevated tHcy test result >30 mmoles/L and medications prescribed were examined. Frequencies of select comorbidities were assessed, using International Classification of Diseases (ICD-9 and ICD10) codes. Incidence of first-time tHcy testing and incidence and prevalence of tHcy >30 mmoles/L were tabulated. RESULTS: Of 8.2 million MSN patients in the Lab database, 1.9 million were enrolled throughout 4/1/15e3/31/16. Of those, 0.8% (15,012) had a tHcy test since 2006 (mean±SD, 10.8 ±15.1 mmoles/L). Of the 15,012 patients, 223 (1.5%) had tHcy >30 (96.0±174.1, median 39.9). Of the 223, 45% were diagnosed with hypertension, 44% hyperlipidemia, 17% hypothyroidism, 15% vitamin D deficiency and 12% renal disease, with only 10% (22) diagnosed with HCU or a sulfur amino acid metabolism disorder. After a tHcy >30 result, 11% were prescribed antihypertensives, 10% lipidlowering drugs, 9% anxiolytics or antidepressants, 7% thyroid hormone and 2% vitamin D. Annual incidence of a first tHcy test result was 0.8e2.3 (mean 1.5) tests/ 1000 person years in 2009e2015. The incidence of a first tHcy result >30 was 0.01e0.06 (mean 0.03)/1000. Estimated point prevalence of tHcy >30 in the U.S. on 4/ 1/2016 was~0.010%e 0.014% (33,562e43,706). CONCLUSIONS: This study is one of the first to estimate the prevalence of tHcy levels in the range of classical HCU in the U.S. Of patients having many symptoms associated wit...
Mean age of the patients was 70.0 (SD 11.4) years and 53.0% were women. Average time since T2D diagnosis was 9.8 (SD 6.3) years. An estimated increase of 1.86 (95% confidence interval, CI, 0.33-3.39) mmol/mol in average HbA1c levels was detected at the time of the policy change. In subgroup analyses, strongest effects were detected among patients living in less highly educated areas (2.38 mmol/mol, 95% CI 0.75-4.02) and patients with T2D-coexisting diseases only in addition to T2D (2.35 mmol/mol, 95% CI 0.70-4.00). Consumption of diabetes medications decreased by 5.2% while number of purchases increased by 3.1% and number of users decreased by 4.6% between 2016 and 2017. Conclusions: Increase of copayment level increased the average HbA1c level among T2D patients from North Karelia region, Finland. This may be explained by the decreased consumption of diabetes medications between 2016 and 2017. Special attention should be allocated to glycaemic control of patients from the lowest income groups and with T2D-coexisting diseases.
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