Hyperchylomicronaemia Definition, Symptoms, Causes, Treatment

Hyperchylomicronemia is a condition in which the triglycerides TGs level increases in blood. The triglycerides TGs are the lipid molecules which are obtained from food and are absorbed by stomach. These triglycerides TGs are transferred to some specific sites of body for the energy. It is transferred to the adipose tissues for the storage and later use for energy. When triglycerides TGs level increases in blood, then it is known as hyperchylomicronemia. Increased level of triglycerides TGs decreases the flow of blood and ultimately causes cardiac problems and heart diseases.

It has many types which are based on the type of triglycerides TGs, cause and the presentation of the associated disorders of heart. One of the types of hyperchylomicronemia is type 4 which contains VLDL for the transfer of triglycerides TGs across cell membrane. Like wise the type 1 of hyperchylomicronemia is a genetic disorder in which the level of triglycerides and chylomicron increases in blood. The high level triglycerides TGs and chylomicron causes various complications including pancreatitis. It occurs due to the gene mutation in a specific enzyme named lipoprotein lipase. Mutation in other genes which are responsible for encoding lipoprotein lipase also causes hyperchylomicronemia. It is usually diagnosed in children.

Hyperchylomicronaemia Definition, Symptoms, Causes, Treatment

Hyperchylomicronemia Symptoms


If the level of triglycerides TGs in blood is below 1000mg per dl, there will be no symptoms. As various heart diseases are associated with this condition, so symptoms of heart diseases may also occur. Patient may experience symptoms of atherosclerosis i.e. heart attack or angina. But these symptoms may occur after a long time of hyper TGs. Some common symptoms include pancreatitis, mild jaundice, back pain, nausea, vomiting, abdominal pain and back pain. All these symptoms appear when TGs are above 1000ml/dl. If the level exceeds and become above 2000ml/dl then patient may experience headache, fatty skin lesions, enlarged liver, shortness of breath and dizziness.

Hyperchylomicronemia Causes


In case of primary hyperchylomicronemia, the cause is genetic and is inherited from parents to their offsprings. In case of secondary hyperchylomicronemia, the causes may be kidney diseases like uremia and nephrotic syndrome, liver diseases, thyroid diseases like hyperthyroidism. Other than these high intake of calories, Diabetes mellitus and glycogen storage disease specifically type 2, immunoglobulin deficiencies and Cushing syndrome may cause hyperchylomicronemia. It may be secondary to some drugs like beta blockers, alcohol, bole acid sequestrants, retinoids, estrogen, thiazide diuretics and corticosteroids. All these drugs are responsible for causing hyperchylomicronemia.

Hyperchylomicronemia Treatment


Hyperchylomicronemia have to be treated in two ways i.e. by lowering the level of triglycerides TGs in blood and by treating the symptoms of the associated diseases. The level of triglycerides TGs can be reduced by taking low fat diet. Dietary modifications will help a lot in treating this condition. As intake of low fat diet will not provide any source of triglycerides in body and ultimately the level of triglycerides TGs in blood will decrease. As it is an inherited disease, so no preventive measures can be followed. The symptoms of the associated diseases can be treated with their respective treatment strategies.

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