Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor
|Title||Underdiagnosis and non-treatment of heterozygous familial hypercholesterolemia in association with cardiovascular disease|
|Conference||ESC Congress 2018|
|Promoters||European Society of Cardiology|
|Conference Type||International society and overseas society|
|Presentation Type||Poster notice|
|Publisher and common publisher||SEKIGUCHI Haruki, ABE Takuro, ◎YAMAMOTO Eri, KOIKE Toshiharu, SAKAI Akiko, SATO Kayoko, HAGIWARA Nobuhisa|
(city and name of the country)
|Society abstract||European Heart Journal 39(1),6267 2018|
|Summary||Introduction: Heterozygous familial hypercholesterolemia (hFH) is a common genetic disease that causes premature coronary heart disease. However, the rate of diagnosis in Japan is less than 0.1%.
Aims: We examined patients hospitalized with cardiovascular disease (CVD) and evaluated the extent to which hFH is underdiagnosed and undertreated.
Methods: Among the 4546 patients admitted to our hospital between June 2013 and May 2015, we studied 1341 patients consecutively hospitalized for CVD. Based on Japanese diagnosis criteria of hFH, we diagnosed patients as heterozygous familial hypercholesterolemia (hFH) and classified them into three groups: 1) Definitive hFH: patients demonstrating 2 or 3 factors as per FH guidelines. 2) Probable hFH (FH s/o): patients demonstrating only 1 factor. 3) Hypercholesterolemia (DL): patients not demonstrating any factor. We compared characteristics and lipid profiles between these groups.
Results: To analyze the rate of hFH, we examined 127 patients with high levels of low-density lipoprotein cholesterol (LDL-C) >140mg/dL in 1341 CVD patients. We diagnosed 20 hFH (48±5 years) patients, 25 hFH s/o (59±14 years) patients, and 83 DL (73±8 years) patients. Maximum LDL-C levels were significantly high in the hFH compared to the others (213±55, 178±32, 146±26 mg/dL, P<0.01, respectively).Triglyceride levels in hFH and hFH s/o patients were higher than patients with DL (212±126, 203±114, 148±80 mg/dL, P<0.01, respectively). However, there were no significant differences in high-density lipoprotein cholesterol, blood pressure, creatinine, brain natriuretic peptide, C-reactive protein, and ejection fraction between the three groups. However, 15.0% of hFH patients were treated with statins upon admission, and only 1.5% of hFH patients had received a definitive diagnosis at the time of discharge. During the follow-up, significantly higher cardiac event were observed in the hFH and hFH s/o patients than in DL patients (11.1% vs. 4.8%, P<0.05).
Conclusions: We conclude that owing to severe underdiagnosis and undertreatment of hFH, there is an urgent need for better diagnostic screening in addition to early and aggressive treatment of high-risk conditions that might precipitate future cardiovascular events.