📂 Diseases
hyperlipidemia due to hepatic triglyceride lipase deficiency — Definition
Hepatik trigliserit lipaz eksikliğine bağlı hiperlipidemi / hyperlipidemia due to hepatic triglyceride lipase deficiency
Hepatic triglyceride is a genetic metabolic disease that occurs as a result of congenital deficiency of lipid enzyme, characterized by the rise of triglyceride and lipoprotein levels in the blood. This lack of enzyme leads to hypertriglyceride by disrupting the normal metabolism of moderate density lipoproteins (IDL) and large density lipoproteins (HDL). The findings can be seen at clinically early age due to lipid accumulation such as atherosclerosis, pancreatitis and ksantom. The diagnosis is subject to plasma lipid profile and enzyme activity measurements; dietary modification and lipid-lowering drugs are used in the treatment.
Disease Definition
🔬 Disease Definition
Hepatic lipaz eksikliğine bağlı hiperlipidemi, hepatik trigliserit lipaz enziminin yetersizliği sonucu ortaya çıkan, otozomal resesif geçişli nadir bir lipid metabolizması bozukluğudur. Bu durum, özellikle orta yoğunluklu lipoproteinlerin (IDL) ve büyük yoğunluklu lipoproteinlerin (HDL) metabolizmasında bozulmaya yol açar.
🧬 Causes & Risk Factors
LIPC genindeki mutasyonlar nedeniyle hepatik trigliserit lipaz enzim aktivitesinin azalması veya yok olması.
🩺 Symptoms & Signs
Erken ateroskleroz, koroner arter hastalığı, ksantomlar (özellikle tendon ksantomları), hepatomegali, splenomegali, pankreatit atakları.
📋 Diagnostic Methods
Plazma lipid profili: yüksek total kolesterol, yüksek trigliserit, yüksek IDL, düşük HDL. Lipoprotein elektroforezi. LIPC gen mutasyon analizi. Hepatik lipaz aktivitesinin ölçümü (karaciğer biyopsisi veya heparin sonrası plazma).
💊 Treatment Options
Diyet: düşük yağlı, düşük karbonhidratlı diyet. Lipid düşürücü ilaçlar: statinler, fibratlar, niasin. Plazmaferez (şiddetli vakalarda).
⚠️ Complications
Erken kardiyovasküler hastalık, miyokard enfarktüsü, inme, pankreatit, karaciğer yağlanması.
Frequently Asked Questions
❓ What is Hepatik trigliserit lipaz eksikliğine bağlı hiperlipidemi?
Hepatik trigliserit lipaz eksikliğine bağlı hiperlipidemi; hepatic triglyceride is a genetic metabolic disease that occurs as a result of congenital deficiency of lipid enzyme, characterized by the rise of triglyceride and lipoprotein levels in the blood. This lack of enzyme leads to hypertriglyceride by disrupting the normal metabolism of moderate density lipoproteins (IDL) and large density lipoproteins (HDL). The findings can be seen at clinically early age due to lipid accumulation such as atherosclerosis, pancreatitis and ksantom. The diagnosis is subject to plasma lipid profile and enzyme activity measurements; dietary modification and lipid-lowering drugs are used in the treatment.
❓ What is hyperlipidemia due to hepatic triglyceride lipase deficiency in Turkish?
The Turkish equivalent of "hyperlipidemia due to hepatic triglyceride lipase deficiency" is Hepatik trigliserit lipaz eksikliğine bağlı hiperlipidemi.
❓ Which medical field is Hepatik trigliserit lipaz eksikliğine bağlı hiperlipidemi related to?
This term belongs to the Diseases category.