Turk Kardiyol Dern Ars. 2017; 45(8): 731-738 | DOI: 10.5543/tkda.2017.63846
Identifying undiagnosed or undertreated patients with familial hypercholesterolemia from the laboratory records of a tertiary medical center
, Hamza Berlik2
, Yalçın Güneş2
, Orhan Enes Tunçez2
, Cihat Aytekin2
, Zafer Tapıkara2
, Hüseyin Güzel2
, Özlem Öztürk3
, Cem Barçın4
, Taner Özgürtaş3
, Ömer Azal1
, Alper Sönmez11
Department of Endocrinology and Metabolism, Gülhane Training and Research Hospital, Ankara, Turkey2
Health Sciences University, Gülhane Faculty of Medicine, Ankara, Turkey3
Department of Biochemistry, Gülhane Training and Research Hospital, Ankara, Turkey4
Department of Cardiology, Gülhane Training and Research Hospital, Ankara, Turkey
OBJECTIVE Familial hypercholesterolemia (FH) is a life-threatening genetic disease associated with elevated low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease that is undiagnosed and undertreated around the world. This study aimed to examine the demographic characteristics, awareness, and treatment adherence of undiagnosed or undertreated FH patients based on laboratory records.
METHODS In a 16-month retrospective survey using laboratory records, patients with elevated LDL-C (>250 mg/dL) were identified (n=395). Patients younger than 18 years of age or with secondary causes of dyslipidemia were excluded (n=98). In all, 297 patients were called and asked to participate in a phone interview regarding their demographic characteristics, awareness of dyslipidemia, and treatment adherence.
RESULTS A total of 147 patients (mean age: 51.7±16.6 years; 59.2% female) completed the interview. The mean LDL-C level of the patients was 292.8±49.9 mg/dL. According to the Dutch Lipid Clinic Network criteria, 18.4% of the patients had definite FH, 66.0% had probable FH, and 15.6% had possible FH. Although the majority of the patients (93.9%) were aware of their high LDL-C level, only about half of them (n=75; 51.0%) were in treatment. Of all the patients who were interviewed, 21% (n=31) had never taken medication to lower their LDL-C, and 28% (n=41) had stopped taking a lipid-lowering drug.
CONCLUSION This pilot study revealed that a significant number of FH patients were not taking statins despite having a very high LDL-C level. Nationwide detection of likely FH patients using hospital records and interviewing them via a phone survey may help to better understand and manage these high-risk patients.
Familial hypercholesterolemia, laboratory records; telephone interview.
How to cite this article
Cem Haymana, Hamza Berlik, Yalçın Güneş, Orhan Enes Tunçez, Cihat Aytekin, Zafer Tapıkara, Hüseyin Güzel, Özlem Öztürk, Cem Barçın, Taner Özgürtaş, Ömer Azal, Alper Sönmez. Identifying undiagnosed or undertreated patients with familial hypercholesterolemia from the laboratory records of a tertiary medical center. Turk Kardiyol Dern Ars. 2017; 45(8): 731-738
Corresponding Author: Cem Haymana, Türkiye