📂 Diseases
Primary hyperchylomicronemia — Definition
Primer hiperşilomikronemi / Primary hyperchylomicronemia
Primary hyperchilomicronemia is a rare lipid metabolism disorder, characterized by the fact that apo C-II, a lipoprotein lipase enzyme or cophanector, does not be cleaned from plasma. The disease leads to the accumulation of chilomicron with an excessive amount of triglycerides in the blood, and often manifests itself with recurrent abdominal pain, pancreatitis attacks and eruptive ksantoms in childhood. In this case, showing autozomal resesif, plasma triglycerides levels are usually over 1000 mg/dL, and the use of moderate chain triglycerides with a tight diet restriction (reportation of oil intake by 10%-15).
Disease Definition
🔬 Disease Definition
Primer hiperşilomikronemi, lipoprotein lipaz (LPL) eksikliği veya apolipoprotein C-II (apoC-II) eksikliği gibi genetik bozukluklar sonucu şilomikronların plazmada birikmesiyle karakterize nadir bir lipid metabolizması hastalığıdır.
🧬 Causes & Risk Factors
Genellikle LPL, APOC2, APOA5, GPIHBP1 veya LMF1 genlerindeki otozomal resesif mutasyonlar nedeniyle oluşur.
🩺 Symptoms & Signs
Tekrarlayan karın ağrısı, akut pankreatit, eruptif ksantomlar, hepatosplenomegali, lipemia retinalis ve şiddetli hipertrigliseridemi (>1000 mg/dL).
📋 Diagnostic Methods
Plazma trigliserid düzeyi ölçümü, lipoprotein elektroforezi, genetik testler ve LPL aktivite testi ile konur.
💊 Treatment Options
Sıkı yağ kısıtlamalı diyet (günlük <20 g yağ), orta zincirli trigliserid (MCT) yağı kullanımı, gerektiğinde plazmaferez ve yeni tedaviler (örneğin, LPL gen tedavisi veya volanesorsen).
⚠️ Complications
Akut pankreatit, kardiyovasküler hastalık riskinde artış, tekrarlayan karın ağrısı atakları ve kronik pankreas hasarı.
Frequently Asked Questions
❓ What is Primer hiperşilomikronemi?
Primer hiperşilomikronemi; primary hyperchilomicronemia is a rare lipid metabolism disorder, characterized by the fact that apo C-II, a lipoprotein lipase enzyme or cophanector, does not be cleaned from plasma. The disease leads to the accumulation of chilomicron with an excessive amount of triglycerides in the blood, and often manifests itself with recurrent abdominal pain, pancreatitis attacks and eruptive ksantoms in childhood. In this case, showing autozomal resesif, plasma triglycerides levels are usually over 1000 mg/dL, and the use of moderate chain triglycerides with a tight diet restriction (reportation of oil intake by 10%-15).
❓ What is Primary hyperchylomicronemia in Turkish?
The Turkish equivalent of "Primary hyperchylomicronemia" is Primer hiperşilomikronemi.
❓ Which medical field is Primer hiperşilomikronemi related to?
This term belongs to the Diseases category.