Hyperlipoproteinemia type I
Introduction
Introduction to hyperlipoproteinemia type I Primary familial hyperlipoproteinemias are characterized by a syndrome caused by hereditary lipoprotein metabolism disorders. The prognosis of a patient depends mainly on the type of lipoprotein that is elevated in plasma or deposited in blood vessels. Hyperlipoproteinemia Type I is also known as lipoprotein deficiency, familial hyperchymitis, and Burger-Gruz syndrome. It is triggered by fat in food, high chylomicronemia caused by lack of hereditary lipoproteinase, lipoprotein with increased triglyceride deposition in viscera and skin, very low incidence, autosomal recessive inheritance, Mainly seen in children with pediatrics due to abdominal cramps. basic knowledge Sickness ratio: 0.001%-0.002% Susceptible people: no specific population Mode of infection: non-infectious Complications: acute pancreatitis myocardial infarction
Cause
Hyperlipoproteinemia type I etiology
genetic factors:
Syndrome caused by hereditary lipoprotein metabolism disorders, autosomal recessive inheritance.
Pathogenesis
Due to the hereditary deficiency of vascular endothelial cell lipoproteinase or the binding of triglyceride to specific apo-protein, plus exogenous fat intake, secondary chylomicron metabolism disorder, resulting in chylomicron accumulation, elevated serum levels, tissue Medium triglyceride deposition.
Prevention
Hyperlipoproteinemia type I prevention
Correct the partial eclipse and control the large intake of fat.
Complication
Hyperlipoproteinemia type I complications Complications acute pancreatitis myocardial infarction
1. Early onset coronary heart disease is more common in familial hypercholesterolemia. The average age of onset is 45 years for males and 55 years for females. The youngest children develop myocardial infarction at 18 months, and other parts of the arteries can also develop porridge. Such sclerosis, such as carotid atherosclerosis can cause carotid stenosis, vascular murmurs can be heard in the carotid artery during physical examination.
2. Significant hypertriglyceridemia can cause acute pancreatitis.
Symptom
Hyperlipoproteinemia type I symptoms common symptoms hepatosplenomegaly tension upper abdominal pain
Rash-type xanthoma is the most typical, more common in the buttocks, thighs, arms, back and face, can also invade the oral mucosa, skin lesions can be fused, other symptoms include upper abdominal pain, may be caused by liver and spleen capsule tension, liver and spleen Caused by swelling and pancreatitis, fundus examination showed retinal lipemia, serum triglyceride, chylomicron increased, hepatic lipoprotein deficiency or decreased, apoA was lower than normal.
Examine
Hyperlipoproteinemia type I examination
Triglyceride in serum, elevated chylomicrons, lack or reduction of hepatic lipoproteinase, apoA is lower than normal.
Fundus examination showed that the retina showed lipemia.
Diagnosis
Differential diagnosis of type I hyperlipoproteinemia
According to the clinical manifestations, laboratory examination, the characteristics of the lesion characteristics can be diagnosed.
