A Machine-Learning Algorithm using Claims Data to Identify Patients with Homozygous Familial Hypercholesterolemia (HoFH)
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition characterized by markedly elevated low-density lipoprotein cholesterol with an estimated prevalence of 1 in 250,000. If untreated, HoFH patients may suffer premature cardiovascular events and early death; yet awareness and diagnosis of HoFH remains low. The heterogeneity of FH phenotypes and lack of International Classification of Diseases (ICD) diagnosis codes have posed challenges with HoFH identification.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Jing Gu, Xinshuo Ma, Mathew Epland, Jina Park, Robert J Sanchez, Ying Li Tags: Genetic Disorders Source Type: research
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