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Hyperlipoproteinemia: Causes, Symptoms, Diagnosis, Treatment


What is hyperlipoproteinemia condition?

Information about Due to hyperlipoproteinemia and symptoms. Hyperlipoproteinemia is the name of five different metabolic disorders, all of which can be inherited. This condition interferes how the blood carries fat. Some forms are light, there are symptoms that can be cured by diet, while others are potentially fatal.

what causes of hyperlipoproteinemia?

One of the five blood test patients who show high lipid and lipoprotein​levels is hyperlipoproteinemia. Disorders can also be linked to other conditions. Such as diabetes, kidney disease, or pancreas or thyroid gland disorders.

What are hyperlipoproteinemia symptoms and diagnose

The specific symptoms of hyperlipoproteinemia of each type are:

  1. Type causes severe stomach ache attacks that usually occur when the person eats fatty food. It can be a normal inconvenience, loss of appetite and fever. The doctor examines a rigid or soft stomach, tenderness around the liver or spleen and pinkish-yellow color on the skin. He also looks for red blood cells in the retina of the eyes.
  2. Type causes the strong mass on the person’s Achilles tendon and tendon of hands and feet. The doctor examines the yellow patches or nodules on the skin. An opaque ring around the cornea in the eye and coronary artery disease prematurely.
  3. Type can produce soft, swollen lesions above the elbow and knees. The doctor examines the person’s skin (especially hands) for vascular disease, yellow patches and nodes and arterial stops before time.
  4. A type is more related to food, obesity, and diabetes. Doctors check hypertension, signs of early coronary artery disease and filled arteries.
  5. Type stomach pain (most common), yellowish body on the skin. And red turn white blood vessels into the retina of the eyes. The doctor checks for an inflammatory pancreas, nerve damage, yellow matter on the hands and feet and liver problems.

Hyperlipoproteinemia type 1

Type1 Hyperlipoproteinemia

Type of disease: rare condition genetic, autosomal recessive
Hyperlipoproteinemia type 1 (HLP type 1) is hyperlipoproteinemia. Hyperlipoproteinemia is characterized by the inability to break lipids called fat molecules.

HLP type 1 has a high level of a fat type called triglycerides. Fats play an important role in helping our body function properly. There is no mixture in oil and water, fat-like triglycerides do not mix well with our blood.

Protein is called lipoprotein to help travel through our blood. Chylomicron, a type of lipoprotein, helps triglycerides travel through the blood.

Each person has two copies of each gene, one in each parent. Our genes make the recipe for who we are. When a gene mutates, it means that the recipe has been modified in some way.

HLP type 1 is inherited in an autosomal recessive pattern, which means that one mutation from each parent is inherited in a child. So that symptoms can become the cause.

Symptoms of HLP type 1

Symptoms of HLP type 1 usually begin during early childhood. And it causes pain in the stomach, nausea, lack of appetite. And the pain in muscles and bones. Visible signals are yellow spots under the skin or on hands, mostly on the hands (xanthomas).

These bumps may also occur on the elbow, knees, knees, and feet. Infected liver, spleen, and pancreas are common. Increasing health conditions such as diabetes, hyperactive thyroid, kidney disease.

And liver disease can increase the risk of HLP type 1. Drinking alcohol can be harmful because it increases triglyceride levels.

HLP type 1 can be detected from a blood test. A doctor can also use family history to help diagnose. The most common treatment is lifestyle changes, such as eating a low-fat diet and exercising regularly.

If these changes do not work then the medicines are available. Xanthomas can usually be removed by surgery. If you or a family member has found family HLP type 1, talk to your doctor about the most current treatment options.

Type 2 Hyperlipoproteinemia

Type IIb is classic mixed hyperlipidemia (high cholesterol and triglyceride level). Which is due to elevation in LDL and VLDL. This is due to a mutation in the receptor-binding domain of Apolipoprotein B-100. Which is a major component of LDL and VLDL? Which results in the reduction of the lipoprotein withdrawal.

These patients almost always have high plasma apo b. The level of apo B is significantly higher relative to plasma LDL-C. Which is due to the presence of small dense LDL particles. Which are characteristic of this syndrome and are highly atherogenic.

Elevated LDL, Cholesterol and Triglycerides 3-Hydroxy-3-Methylgullaryl are due to the removal of coenzyme A reductase (HMG-COA reductase). The enzyme controlling the rate in cholesterol bioassinesthesis.

Type III Hyperlipoproteinemia

Type III is known as Dysbetalipoproteinemia, Removal Disease or Broad-beta Disease. Generally, patients with this condition raise the level of total cholesterol. And triglyceride and they are easily confused with type IIb hyperlipidemia patients.

Patients with type III hyperlipidemia have an important risk for the development of intermediate-density lipoprotein (IDL). A VLDL residue, and coronary artery disease. Family desibitolipoproteinemia is caused by a mutation in the gene for apolipoprotein e (APO).

Apo e chylomicron and VLDL are present in the remnants. And mediate their removal from the plasma by binding the receptors in the liver.

Faulty APO E is impaired in the ability to bind these receptors, resulting in the accumulation of chylomicron. And VLDL residues in the plasma. Homozygosity is the most common cause of familial dysbetalipoproteinemia for E2 allele (E2 / E2 genotype).

Type 3

Diagnosis is usually done on the basis of a combination of clinical and laboratory parameters, advanced triglycerides and cholesterol are determined by direct laboratory analysis of serum. Or plasma after 10 to 12 hours of fasting.

There are no simple diagnostic tests for dysbetalipoproteinemia. Clinical trials are either based on the performance of the residual accumulation or characteristic of the apo.

Electrophoretic techniques include serum agarose gel electrophoresis, but less than half of a broader ethic band patient [9] are found. Ultracentrifugation .- The Escape is required to display VLDL.

Type IV Hyperlipoproteinemia

Type IV has an abnormal elevation of VLDL, and triglyceride levels are usually less than 1000 mg / dL. Serum cholesterol levels are normal. Typ-IV is a characteristic of the disease, indicating turbid serum hypertriglyceridemia and a normal or slightly elevated serum cholesterol level.

It probably represents a complex interplay of genetic and environmental factors according to the beginning of the maturation of diabetes mellitus. Hyperlipoproteinemia may be primary, due to inherited characteristics.

Or secondary, due to poorly controlled diabetes, alcohol, nephrotic syndrome, chronic renal failure, and dysgammaglobulinemia.

Type 4

Type IV lipoprotein phenotype (endogenous hypertriglyceridemia, hyperparibetiplotropinemia), endogenous hypertriglyceridemia represents a group of heterogeneous disease organizations with various etiology and a different degree of related risk for atherosclerosis [10]

There are two major hereditary disease institutions: LDL-AOPO With an associated elevation of the levels and it is believed that this parish Waric Joint Hyperlipidemia (FCHL) represents a multiple lipoprotein-phenotype diseases; Other, family hypertriglyceridemia (FHTG), in which the level of LDL-AOPO B is normal.

Major metabolic defects are given to FHG increase the liver synthesis of triglycerides with the accumulation of triglyceride-rich VLDL in plasma, resulting in a clear saturation of catabolic processes. In FCHL, there is an increased synthesis of APO B with the overproduction of both VLDL- and LDL-APOB.

Type5 Hyperlipoproteinemia

Type, V is the characteristic of elevation of chylomicron and VLDL. Triglyceride levels are always higher than 1000 mg/dl, and the total cholesterol level is always high. LDL cholesterol levels are usually low. Given the rarity of Type 1 disease, when triglyceride levels above 1000 mg/dl are noted.

The most likely cause is type V hyperlipidemia. If the triglyceride level exceeds 1000 mg/dl, the risk of acute pancreatitis increases, and because triglycerides are very fast. The level of 500 mg/dl or more should be the primary focus of treatment. If a patient has a high risk for a cardiac event.

Then the development of this lipid disorder involves a multitude of metabolic disorders, including the lack of triglycerides. And/or the production of obesity, diabetes, alcohol consumption, or some hormones Includes an increase in…

Some studies have suggested that the Apolipoprotein E4 phenotype is included in this disipopoproteinemia.

Typically, there are 3 disorders associated with atherosclerotic vascular disease. Type II (hyperlipoproteinemia), type III (“broad beta” or “floating beta” disease) and type IV (Hyperparibilotropinin or endogenous hypertriglyceridemia).

The diagnosis of each of these three disorders can be done after fasting serum cholesterol levels after the presence of fasting serum and overnight in a refrigerator, type II disease is characterized by a clear serum and clear medium hypercholesterolemia.

Chylomicron fixation

  • If triglyceride levels exceed 1000 mg / dL and the presence of chylomicrons should be confirmed. Then the most simple and most cost-effective test involves upright refrigeration of plasma or serum of an honest tube.
  • #If the next day a creamy surface is seen on the surface, the chylomicron is present.
  • $If an infant is in the cloud, then higher levels of VLDL are present (type V hyperlipidemia).
  • If the newborn is clear, then the VLDL material is normal. And type I hypercholesterolemia (high chylomicron only) should be suspected.

It can rapidly provide a difference between hypertriglyceridemia due to chylomicomaniacia. And that due to the increase in VLDL without the need for electrophoresis, lipoprotein electrophoresis. (Egro gel gives the best isolation).

In general, total cholesterol and triglyceride should be determined. Electrophoretic patterns can be used for LDL / HDL ratio which can be used as a risk index. Ultra-centrifuge gives the exact nature of the density value of affected lipoprotein.

This process is possible only where ultracentrifuges are available and it is also time-consuming.

Special laboratory testing



Recent investigations have also characterized the characterization of protein components (apoproteins) and even their primary structure. Immunologic methods are prevalent in determining apolipoprotein. Each apoprotein is named by nomenclature on the basis of C-terminal amino acids.

Important of these are:

  • APO-A: Better Discrimination for HDL Cholesterol
  • APO-B: LDL, differentiation for cholesterol.
  • Apo-C
  • Apo-e: Differential for Family Dissipoproteinemia

LDL receptor:

The LDL receptor study is done on fibroblastic cultures.
These are the research processes carried out in advanced laboratories. And assist in identifying the basic mechanism of genetic phenotype and hyperlipoproteinemia.

Secondary or nonfamily hyperlipoproteinemia should be dismissed before the primary type of diagnosis is made. Conditions such as nephrotic syndrome, liver disease, hypoxemia, and others can lead to secondary hyperlipoproteinemia.

How is it treated?

In this situation, the doctor tries to identify and treat any underlying problem like diabetes. If there is no contributing problem, then primary treatment for type II, III and IV are diet management.

That is, limiting the intake of cholesterol. If diet alone is not effective, then this medicine may be complementary by medicine. Other treatments depend on the type of hyperlipoproteinemia.


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