Types of disorder metabolism include: - Type 1 (familial hyperchylomicronemia) characterized by massive fasting hyperchylomicronemia due to lipoprotein lipase deficiency. Treatment is a low fat diet. - Type 2A (familial hypercholesterolemia) caused by LDL receptor defects, leading to increased LDL and risk of heart disease. Treated with diet and drugs like statins. - Type 2B (familial combined hyperlipidemia) caused by overproduction of VLDL, increasing triglycerides and cholesterol. Managed with lifestyle changes and medication therapy.

1. Disorder metabolism :

4. • 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 :

5. 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

7. • 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 )

8. 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).

9. 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.

10. 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)


11. 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

12. 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

13. 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

14. 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


15. Disease
type 1 :

16. 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.

17. 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

18. 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).

19. 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.

22. 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.

23. 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

24. 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.


25. 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.

30. Treatment :
 The goal of treatment is to reduce the risk
of atherosclerotic heart disease.


31. 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