Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
| Autor: | Kristin A. Evans, Liisa Palmer, Debra E. Irwin, Frank Glavin, Marcia Sellos-Moura, David Lapidus |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Hyperhomocysteinemia Adolescent Databases Factual Homocysteine Total homocysteine Endocrinology Diabetes and Metabolism Homocystinuria Homocysteine levels 030105 genetics & heredity Biochemistry Gastroenterology 03 medical and health sciences chemistry.chemical_compound Neonatal Screening 0302 clinical medicine Endocrinology Hypothyroidism Internal medicine Prevalence Genetics medicine Humans Renal Insufficiency Child Molecular Biology Aged Newborn screening business.industry Infant Newborn Genetic disorder Infant Middle Aged medicine.disease United States chemistry Child Preschool Female Missed opportunity business 030217 neurology & neurosurgery |
| Zdroj: | Molecular Genetics and Metabolism. 130:36-40 |
| ISSN: | 1096-7192 |
| DOI: | 10.1016/j.ymgme.2020.02.001 |
| Popis: | Classical homocystinuria (HCU) is a genetic disorder caused by mutations in the cystathionine beta synthase gene, which results in impaired metabolism of the sulfur-bearing amino acid homocysteine and its accumulation in blood and tissues. Classical HCU can be detected via newborn screening in the United States, but the test is widely acknowledged to miss many patients. While severely elevated homocysteine levels (100 μmol /L) frequently lead to a classical HCU diagnosis, intermediate levels (30 to 100 μmol /L), though linked to many of the known complications of HCU, are not always recognized as associated with HCU. We aimed to identify and describe potentially undiagnosed classical HCU patients using a nationally-representative database of administrative claims and laboratory results. We estimated the national prevalence of patients with homocysteine30 μmol /L, and compared their demographic and clinical characteristics to those of patients with homocysteine levels ≤30 μmol/L. Among 57,580 patients with a homocysteine test result, 1.8% had a value30 μmol /L. Patients with homocysteine30 μmol /L were more frequently diagnosed with hypothyroidism (39.2% vs. 20.7%, p .001) and renal disease (9.7% vs. 5.5%, p .001), and were more likely to have a prescription for an anxiolytic/antidepressant (44.5% vs. 38.9%), opioid (58.4% vs. 53.1%), steroid (46.4% vs. 42.5%), or thyroid hormone (38.8% vs. 18.8%), compared to patients with homocysteine ≤30 μmol /L (all p .05). Both groups were equally likely to have a diagnosis of homocystinuria or another disorder of sulfur-bearing amino acid metabolism (3.8% vs. 4.0%, p = .752). The age-adjusted national prevalence of homocysteine30 μmol /L was estimated at 33,068 (95% CI: 1033 - 35,104). These findings suggest that thousands of people in the US may be living with intermediate to severely elevated homocysteine levels and may require further evaluation for the presence of classical HCU. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect