Why the study?
Patients with monogenic dyslipidaemia present across diverse specialties from childhood to adulthood, often facing delayed diagnosis, requiring increased clinician awareness for early recognition.
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This review highlights the importance of increased clinical awareness and genetic testing for the early diagnosis and prevention of monogenic dyslipidaemias.
Monogenic dyslipidaemia is a diverse group of multisystem disorders. Patients may present to various specialities from early childhood to late in adult life, and it usually takes longer before the diagnosis is established. Increased awareness of these disorders among clinicians is imperative for early diagnosis. This best practice review provides an overview of primary dyslipidaemias, highlighting their clinical presentation, relevant biochemical and molecular tests. It also addresses the emerging role of genetics in the early diagnosis and prevention of these disorders.
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Raashda A. Sulaiman (2019) studied this question.
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