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: Tags: Genetic Disorders Source Type: research