Collaboration between Family Physicians and Specialists in the Diagnosis and Management of Familial Hypercholesterolemia

Abstract

Dear Sir, We read with great interest the report, written by Patel and Curnew, concerning the case of a patient with mixed hyperlipidemia for whom lifestyle treatment was effective [1]. The patient was initially diagnosed as familial hypercholesterolemia (FH) by a family physician and received pharmacological treatment with a proprotein convertase subtilisin/kexin type 9 inhibitor (PCSK9i) [1]. The report is instructive on the clinical practice in relation to FH and phenotypically confusing conditions. One of the confusing conditions was a case of hypercholesterolemia combined with hypertriglyceridemia as reported by Patel and Curnew [1]. We would like to add some further comments regarding the collaboration between family physicians and specialists. As the frequency of FH, an inherited disorder associated with an increased risk of cardiovascular diseases, is high in the community worldwide, family physicians play a key role in the screening and management of FH [2]. However, for family physicians who diagnose and manage FH patients, it is occasionally difficult clearly distinguish between some FH-like dyslipidemias and definitive FH [3]. In fact, we have also experienced some cases of secondary dyslipidemia with high cholesterol concentrations, like FH, for instance due to hypothyroidism, in which treatment using PCSK9i was attempted by family physicians. To assist in the clinical practice in relation to FH and FH-like dyslipidemias, collaboration between family physicians and specialists should be promoted. Guidelines, including more concrete practice in relation to FH and FH-like dyslipidemias, as well as a policy of collaboration with specialists, would be necessary for family physicians. Consultation systems to increase access to specialists using information and communication technologies, such as telemedicine, the Internet, and electronic record evaluation [4-6], may be arranged in the near future.