Brger-Grtz disease

Hyperlipoproteinemia: Description:

Also called as Hyperlipoproteinemia.

HyperlipoproteinemiaHyperlipoproteinemia characterized by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient consumes a normal diet, and their disappearance on a fat-free diet; low ?- and ?-lipoproteins on a normal diet, with increase on a fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance; caused by mutation in the lipoprotein lipase gene (LPL) on chromosome 8p.

Synonym(s): Hyperlipoproteinemia, familial hyperchylomicronemia, familial fat-induced hyperlipemia, familial hypertriglyceridemia type 1, and idiopathic hyperlipemia.

A genetic disorder characterized by abnormal lipid (chylomicrons and high triglyceride lipids) breakdown which results in its accumulation in the blood. The disorder is caused by the reduced or absent activity of the enzyme lipoprotein lipase. The severity of the condition is determined by the degree of the deficiency and treatment. The disorder tends to run in families (familial).

Blood lipids (fat in blood) are composed of cholesterol, triglyceride, phospholipid and free fatty acid. Hyperlipidemia is the presence of excess fat in the blood and it mainly implies the elevations of cholesterol and triglyceride in the plasma and is closely related to atherosclerosis (degenerative disease of arteries with fatty deposition on inner walls leading to blocked arteries). As blood lipids are transported in the form of lipoprotein (fat with proteins), hyperlipidemia also manifests as hyperlipoproteinemia.

About one in five people with blood tests that show high lipid and lipoprotein levels has hyperlipoproteinemia. The disorder may also be linked to other conditions, such as diabetes, kidney disease, or disorders of the pancreas or thyroid gland.

Causes and Risk Factors:

This disorder is caused by a gene mutation which is passed on in an autosomal dominant fashion. This means that if you get the gene from just one of your parents -- you will have the condition. The gene mutation for familial hypertriglyceridemia causes a mild to moderate elevation of triglycerides in the blood, though exactly how it does so is unknown. At this time, the gene or genes that cause familial hypertriglyceridemia have not been identified.

The condition does not usually manifest itself until puberty or early adulthood. Obesity, hyperglycemia (high blood glucose levels), and high levels of insulin are frequently associated with this condition.

This disease is inherited and occurs in about 1 in 100 people. A person with familial hypertriglyceridemia or hyperlipoproteinemia has an increased risk of developing pancreatitis. This is an inflammation of the pancreas that may cause severe abdominal pain and rarely death.

Diagnosis:

The diagnosis of this disease is based on determination of the amount of cholesterol and triglyceride in the plasma. Medical history and family history should be explored. Inquire closely about positive family history, diabetes, gout, hepatic diseases, nephrosis and juvenile coronary heart disease. Early diagnosis and treatment may prevent complications.

Treatment:

The goal of treatment is to control conditions that can raise triglyceride levels such as obesity, hypothyroidism, and diabetes.

In this condition, the doctor tries to identify and treat any underlying problem, such as diabetes. If there is no contributing problem, the primary treatment for Types II, III and IV is dietary management - namely, restricting cholesterol intake. If diet alone isn't effective, it may be supplemented by drug therapy. Other treatments depend on the type of hyperlipoproteinemia.

Treatment also involves avoiding excess calories and foods high in saturated fats and carbohydrates.

If high triglyceride levels persist despite diet changes, medication may be needed. Nicotinic acid and gemfibrozil have been shown to lower triglyceride levels in people with this condition.

To lower triglycerides, some people may need to take medications, such as:

Gemfibrozil.

Because the liver makes triglycerides, the medications used to treat this condition may affect the liver. For this reason, someone taking these medications often needs periodic liver function tests.

There is no known prevention for this rare, inherited disorder. Awareness of risks may allow early detection. Prompt institution of a very low fat diet can dramatically improve the symptoms of this disease.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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