Lysosomal Acid Lipase Deficiency Investigation In Patients Diagnosed With Primary Hyperlipidemia

Abstract

Objective: Cholesteryl ester storage disease (CESD) is a disease where a considerable decrease in the activity of lysosomal acid lipase (LAL) enzyme resulting from the mutation in lipa (lysosomal acid lipase) gene is observed, which goes along with dyslipidemia and involves a wide clinical condition ranging from hepatosteatosiz to liver fibrozis; and whose diagnosis is usually skipped. LAL deficiency should be taken into consideraiton for patients who are suffering from hepatosplenomegaly and/or high transaminase level, high ldl and/or low hdl without having problems of obesity or metabolic syndrome. Methods: Our study included 75 patients who applied to Gaziantep University Faculty of Medicine Pediatric Endocrinology and Metabolic Diseases Clinic, 35 patients were excluded out of study because of having secondary hyperlipidemia, 15 patients were diagnosed with non-familial hyperlipidemia, and 25 patients were diagnosed with familial hyperlipidemia. Patients were divided into three groups according to phenotypes; type 2, type 3 and type 5, at the same time patients were divided into three groups according to the treatment as applying lipid aferesis, lipid lowering treatment and dieting, and only dieting group. Gender, age, height, weight, height standard deviation score, weight standard deviation score, follow-up period, complaints, relative body weight were recorded. Lipid profiles, transaminase levels, complete blood count, hormone profiles, bone densitometry (DEXA), echocardiography and LAL enzyme profiles of patients were evaluated. Blood samples were taken to filter paper from totally 40 patients; 15 patients with non-familial hyperlipidemia to eveluate LAL activity and also the same samples were taken from 15 patients with primary hyperlipidemia and 25 patients with familial hyperlipidemia to eveluate LAL levels. Results: We determined the LAL enzyme levels at the normal reference ranges in all of 40 patients with primary hyperlipidemia. Conclussion: In our study there was no relationship between familial hyperlipidemia and lal levels but we think results must be eveluated with the larger number of patients.

Keywords

• Cholesterol Ester Storage Disease
• Hyperlipidemia
• Lysosomal Acide Lipase

Primer hiperlipidemi ile takipli hastalarda lizozomal asit lipaz eksikliği araştırması

Abstract

Amaç: Kolesterol ester depo hastalığı (KEDH); LIPA genindeki (lizozomal asit lipaz geni) mutasyondan kaynaklanan lizozomal asit lipaz enziminin (LAL) aktivitesinde belirgin azalmanın görüldüğü, dislipidemi tablosu ile seyreden ve hepatosteatozdan karaciğer fibrozisine kadar geniş bir klinik tabloyu kapsayan, sıklıkla tanısı atlanan bir hastalıktır. Lizozomal asit lipaz eksikliği; obezite veya metabolik sendrom olmadan hepatosplenomegali ve/veya yüksek transaminaz düzeyleri, yüksek LDL ve/veya düşük HDL düzeyi olan hastalarda düşünülmelidir. Yöntem: Bizim çalışmamızda, Gaziantep Üniversitesi Tıp Fakültesi Çocuk Endokrinoloji ve Metabolizma Hastalıkları Polikliniğinde takipli ve Genel Çocuk Sağlığı ve Hastalıkları Polikliniklerine başvuran toplam 75 hasta çalışmaya alındı. Hastalardan 35’i sekonder hiperlipidemi nedeniyle çalışma dışı bırakıldı. Onbeş hasta ailesel olmayan hiperlipidemi, 25 hasta ailesel hiperlipidemi tanısı aldı. Hastalar kendi aralarında tip 2a, tip 3 ve tip 5 fenotipleriyle 3 gruba, bununla birlikte lipit aferezine giren, diyetle birlikte lipit düşürücü ajan kullanan ve sadece diyet yapan olmak üzere 3 gruba ayrıldı. Cinsiyet, yaş, boy, kilo, boy standart deviasyon skoru, kilo standart deviasyon skoru, izlem süresi, başvuru şikayetleri, relatif vücut ağırlıkları kaydedildi. Hastaların lipit profilleri, transaminazları, hemogramları, hormon profilleri, kemik dansitometreleri (DEXA), ekokardiografileri (EKO), LAL enzim profilleri değerlendirildi. Frederickson sınıflandırması ile ailesel hiperlipideminin dışlandığı 15 hastadan sadece LAL aktivitesi için filtre kağıdına kan alındı. Onbeşi primer hiperlipidemi, 25’i ailesel hiperlipidemi olmak üzere toplam 40 hastadan filtre kağıdıyla LAL düzeyi gönderildi. Sonuç: Çalışmamızda LAL eksikliği araştırdığımız primer hiperlipidemili toplam 40 hastanın tümünde enzim düzeyini normal referans aralığında bulduk. Çalışmamızda ailesel hiperlipidemi ile LAL düzeyi arasında ilişki olmadığı görülmekle beraber mevcut sonuçları daha geniş hasta sayısıyla değerlendirmek uygun olacaktır.

Keywords

• Hiperlipidemi
• Kolesterol Ester Depo Hastalığı
• Lizozomal Asit Lipaz

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