Disorder metabolism :

• Type 1 ( familial hyperchylomicronemia)

• Type 2A (familial hypercholesterolemia)

• Type 2B ( familial combined(mixed) hyperlipidemia)

• Type 3 (familial dysbetalipoproteinemia)

• Type 4 (familial hypertriglyceridemia)

• Type 5 ( familial mixed hypertriglyceridemia)

Types of disorder metabolism :

Familial hyperchylomicronemia defined as :

A rare inherited inborn error of metabolism

involving the absence of the enzyme called

lipoprotein lipase which results in increased

blood triglyeride and chylomicron levels. More

detailed information about

the symptoms,causes, and treatments of

Familial hyperchylomicronemia is available

below

• Massive fasting hyperchylomicronemia, even following normal fat dietry intake, resulting in greater elevated serum TG levels.

• Deficiency of lipoprotein lipase or deficiency of normal apolipoprotein Cll (rare).

• It is not associated with an increase in coronary heart diseases

• Treatment is uptake of low fat diet. No drug therapy is effective

. Type 1 : ( Familial Hyperchylomicronemia )

Chylomicron syndrome

Familial chylomicronemia syndrome (FCS) —also referred to as familial LPL deficiency (LPLD), or hyperlipoproteinemia Type 1 — is a very rare hereditary condition. Individuals with FCS lack a properly functioning enzyme called lipoprotein lipase (LPL), that is involved with lipid metabolism. The disruption of the enzyme activity leads to a build-up of triglycerides and chylomicrons (chylomicronemia).

Chylomicron syndrome

Under normal conditions, triglycerides are

packaged into chylomicrons in the intestine and

transported to fat and muscle cells. In

individuals with FCS, lack of functioning LPL

results in their triglycerides not being degraded,

which leads to very high concentrations of

triglycerides and chylomicrons.

Chylomicron syndrome

The high concentration of chylomicrons can trigger

a host of problems, including the development of

skin lesions known as eruptive xanthoma, a creamy

appearance of the retinal blood vessels (lipaemia

retinalis), abdominal pain, acute recurrent

inflammation of the pancreas (pancreatitis), and/or

abnormal enlargement of the liver and/or spleen

(hepatosplenomegaly)

Chylomicron syndrome

This very rare disease may go undetected, or may be

improperly diagnosed as hypertriglyceridemia during

childhood. In many cases, patients are not properly

diagnosed until they are young adults and experience

severe abdominal pain due to pancreatitis.

FCS is not yet well understood. More natural history

studies and clinical trials are needed to better understand

this very rare condition. Natural history studies provide

information on how the disease progresses over time and

its impact on patients’ daily lives. Clinical trials provide

data on the safety and efficacy of treatment options

Clinical Signs and

Symptoms Individuals with FCS often present with abdominal pain, repetitive

colicky pains, and repetitive episodes of pancreatitis. Failure to thrive also has been reported.

Other common symptoms and/or signs of FCS include the development of skin lesions known as eruptive xanthoma, a creamy appearance of the retinal blood vessels

(lipaemia retinalis), and/or abnormal enlargement of the liver and/or spleen (hepatosplenomegaly). A routine blood sample may often reveal the condition since it is often been described as ‘creamy’ due to the high chylomicron levels.

Most persons with FCS are diagnosed by age 10, but some may not be diagnosed until young adulthood since lipid levels are routinely not measured in children

Symptoms :

• Abdominal pain -- Symptom Checker

• Failure to thrive -- Symptom Checker

• Malaise -- Symptom Checker

• Anorexia -- Symptom Checker

• Fever -- Symptom Checker

• Enlarged spleen -- Symptom Checker

• Enlarged liver -- Symptom Checker

• Impaired vision -- Symptom Checker

• Nausea -- Symptom Checker

• Distended abdomen -- Symptom Checker

Diagnosis :

FCS typically presents early in childhood with severe hypertriglyceridemia, recurrent episodes of severe abdominal pain, a lower tolerance to dietary fat, and failure to thrive (infancy). Presentation in the absence of secondary causes – such as diabetes, alcohol consumption, hormone intake, paraproteinemia, and treatment with antihypertensive agents – profoundly increases the likelihood of FCS as a diagnosis.6

Disease type 1 :

Treatment :

There is currently no pharmacotherapy approved in the United

States to treat patients with FCS.

Though there is anecdotal evidence that some patients MAY benefit

from approved triglyceride lowering medications [fibrates, niacin

(nicotinic acid) or statins (HMG-CoA reductase inhibitors)], FCS

experts believe that strict adherence to a low fat diet is the only

effective way to manage FCS.

Plasmapheresis (removal, cleaning, and reinsertion of patient’s

blood/plasma) may be necessary for some patients.

The possibility of gene therapy for FCS is currently being explored.

Type 2A ( Familial Hypercholesterolemia )• Elevated LDL, with normal VLDL levels

due to a block in LDL degradation. Increased serum cholesterol but normal TG levels.

• Caused by defects in synthesis of LDL receptors.

• Ischemic heart disease accelerated.

• Treatment: diet and drugs

Familial Hypercholesterolemia

FH is short for Familial Hypercholesterolemia. It is an inherited disorder that leads to aggressive and premature cardiovascular disease. This includes problems like heart attacks, strokes, and even narrowing of our heart valves. For individuals with FH, although diet and lifestyle are important, they are not the cause of high LDL. In FH patients, genetic mutations make the liver incapable of metabolizing (or removing) excess LDL. The result is very high LDL levels which can lead to premature cardiovascular disease (CVD).

Familial Hypercholesterolemia

High cholesterol often has no symptoms. Cholesterol is a

silent killer, so the damage may be done long before you

notice anything is wrong. Some of the signs and

symptoms are:

• angina from heart disease

• xanthomas (fatty skin deposits) on the elbows, buttocks,

knees, and tendons

• cholesterol deposits around the eyelids, also known as

xanthelasmas

• cholesterol deposits around the corneas, also known as

corneal arcus

Blood tests will reveal that your cholesterol levels—both

total and LDL—are higher than normal.

Drug Therapy :

If lifestyle modifications do not work, you may need medications to reduce your cholesterol.

Statins are the most common drugs used to reduce LDL cholesterol. Examples of statins include simvastatin (Zocor), lovastatin (Mevacor), atorvastatin (Lipitor) and rosuvastatin (Crestor).

Other drugs that lower cholesterol include bile acid-sequestering resins, ezetimibe, nicotinic acid and fibrates.

Type 2B ( Familial Mixed Hyperlipidemia)

• Similar to type 2A except VLDL also increased, resulting in elevated serum TG and cholesterol levels.

• Caused by overproduction of VLDL by liver.

• Treatment : diet and drug therapy

Type 2B ( Familial Mixed Hyperlipidemia)

Familial combined hyperlipidemia is a disorder of high cholesterol and high blood triglycerides that is inherited, which means it is passed down through families.

Symptoms :

Chest pain (angina) may occur. However, there may not be any physical symptoms.

Persons with this condition develop high cholesterol or triglyceride levels during the teenage years. The levels remain high throughout life. They have an increased risk of early coronary artery disease and heart attacks. Those with familial combined hyperlipidemia have a higher rate of obesity and glucose intolerance.

Treatment :

The goal of treatment is to reduce the risk of atherosclerotic heart disease.

Treatment :

LIFESTYLE CHANGES The first step is to change what you eat. Most of the time, this

is tried for several months before your doctor recommends medicines, too. Diet changes include lowering the amount of fat in your diet so it is less than 30% of your total calories.

Here are some ways to eat less saturated fat:• Eat less beef, chicken, pork, and lamb• Substitute low-fat dairy products for full-fat ones• Eliminate palm oil You can reduce your the amount of cholesterol you eat by

eliminating egg yolks and organ meats. Counseling is often recommended to help people make

changes to their eating habits. Weight loss and regular exercise may also help lower your cholesterol levels.

See also: Heart disease and diet