Asemptomatik ailesel hipertrigliseridemi: Üç vaka sunumu

Ailesel hipertrigliseridemi ender görülen otozomal dominant kalıtımlı bir hastalıktır. Açlık plazma trigliserid düzeyi genellikle 250-1000 mg/dl, kolesterol düzeyi normal ya da hafifçe artmış, yüksek dansiteli lipoprotein genellikle azalmıştır. Çocukluk döneminde genellikle bulgu vermez, ancak normal populasyona göre artmış ateroskleroz riski taşırlar. Bu yazıda ailesel hipertrigliseridemi tanısı alan asemptomatik 3 vaka sunulmuştur.

Anahtar Kelimeler:

Hiperlipoproteinemi tip IV, Kadın, Süt çocuğu, Lipid metabolizması, doğuştan kusurlar, Erkek, Çocuk

Asymptomatic familial hypertriglyceridemia: Report of three cases

Familial hypertriglyceridemia is a rare autosomal dominat disorder. The fasting plasma triglyceride levels usually range between 250-1000 mg/dl with normal to mildly increased cholesterol levels and decreased high density lipoproteins levels. Clinical signs of disease are not seen in childhood, but patients have higher risk of atherosclerosis than normal population. Three cases diagnosed as familial hypertriglyceridemia and who were completely asymptomatic are presented.

Keywords:

Hyperlipoproteinemia Type IV, Female, Infant, Lipid Metabolism, Inborn Errors, Male, Child,

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1. Ohta T, Kiwaki K, Endo F, et al. Dyslipidemia in young Japanese children: its relation to familial hypercholesterolemia and familial combined hyperlipidemia. Pediatr Int 2002; 44: 602-7.
2. Genest J. Lipoprotein disorders and cardiovascular risk. J Inherit Metab Dis 2003; 26:267-87.
3. Rader DJ, Tershakovec AM. Disorders of lipoprotein metabolism and transport. In: Behrman RE, Kliegman RM, Jenson HB (eds), Nelson Textbook of Pediatrics. 17th ed. Philadelphia: Saunders 2004; 445-59.
4. Relationship of atherosclerosis in young men to serum lipoprotein cholesterol concentrations and smoking. A preliminary report from the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) Research Group. JAMA 1990; 264:3018-24.
5. Berenson GS, Wattigney W A, Tracy RE, et al. Atherosclerosis of the aorta and coronary arteries and cardiovascular risk factors in persons aged 6 to 30 years and studied at necropsy (The Bogalusa Heart Study). Am J Cardiol 1992; 70:851-8.
6. Berenson GS, Srinivasan SR, Bao W, et al. Association between multiple cardiovascular risk factors and atherosclerosis in children and young adults. The Bogalusa Heart Study. N Engl JMed 1998; 338:1650-6.
7. Hopkins PN, Heiss G, Ellison RC, et al. Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case-control comparison from the National Heart, Lung, and Blood Institute Family Heart Study. Circulation 2003; 108:519-23.
8. Köseli O, Özdemir Ö, Polat A. Bir çocukta familyal kombine hiperlipidemi. Pamukkale Üniv Tıp Fak Dergisi 2001; 7:29-31.
9. Öztürk HM, Önal Sönmez E, Hatipoğlu S, Erdem E, Aksu K, Vakan T. Üç aylık bir çocukta ailevi kombine hiperlipidemi: bir vaka sunumu. Taksim Eğ Araş Hast Tıp Dergisi 2001; 31:50-2.
10. Strong JP, Malcom GT, McMahan CA, et al. Prevalence and extent of atherosclerosis in adolescents and young adults: implications for prevention from the Pathobiological Determinants of Atherosclerosis in Youth Study. Jama 1999; 281:727-35.
11. American Academy of Pediatrics. Committee on Nutrition. Indications for cholesterol testing in children. Pediatrics 1989; 83:141-2.
12. Bao W, Srinivasan SR, Valdez R, et al. Longitudinal changes in cardiovascular risk from childhood to young adulthood in offspring of parents with coronary artery disease: the Bogalusa Heart Study. JAMA 1997; 278:1749-54.
13. Dennison BA, Kikuchi DA, Srinivasan SR, et al. Parental history of cardiovascular disease as an indication for screening for lipoprotein abnormalities in children. J Pediatr 1989; 115:186-94.
14. Tonstad S, Thompson GR. Management of Hyperlipidemia in the Pediatric Population. Curr Treat Options Cardiovasc Med 2004; 6:431-7.
15. Carneiro Muziotti FM, Bosch Roman V, Izquierdo Rodriguez M. [Effects of nutritional intervention on anthropometric variables, intake, serum lipids concentrations and plasma lipids and lipoproteins in dyslipidemic children]. Arch Latinoam Nutr 2001; 51:132-44.
16. Kavazarakis E, Stabouli S, Gourgiotis D, et al. Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study. Eur J Pediatr 2004; 163:462-6.
17. Ohta T, Nakamura R, Ikeda Y, et al. Follow up study on children with dyslipidaemia detected by mass screening at 18 months of age: effect of 12 months dietary treatment. Eur J Pediatr 1993; 152:939-43.