Familial hypercholesterolemia (FH) is a genetic disorder characterized by very high levels of LDL ("bad") cholesterol. It is caused by defects on chromosomes 1, 2, or 19 and is inherited in an autosomal dominant or recessive pattern. Symptoms of FH include cholesterol deposits around the eyes or other areas, atherosclerosis, and fatigue. Diagnosis involves physical exams and blood tests. Treatment focuses on lifestyle changes like diet and exercise as well as drug therapies to lower LDL cholesterol levels.

1. PRESENTATION
ON
FAMILIAL HYPER
CHOLESTEROLEMIA
PRESENTED BY –VIBHA
SINHA
MSC.BIOTECHNOLOGY 4TH
SEM

2. INTRODUCTION-
 What is cholesterol?
 Cholesterol is a sterol ,a short of fat.
 It is one of the three major classes of lipid which all
animal cells use to construct their membranes.
 Cholesterol is needed to make hormones ,bile ,steroids
and vitamin D . all steroids hormones are synthesized
from cholesterol
 Total cholesterol =HDLC+LDLC+(0.2*triglycerides)
 What are LDL and HDL?
 There are two main types of cholesterol:
 HDL stands for high density lipoproteins .it is called
“good” cholesterol because it carries cholesterol
from other parts of your body to your liver. liver
then removes the cholesterol
 LDL strand for low density lipoproteins .it is called the
“bad “ cholesterol because a high LDL level leads
to a buildup of cholesterol in your arteries.

3. WHAT IS FAMILIAL HYPERCHOLESTEROLEMIA?
 Familial Hypercholesterolemia is a genetic disorder characterized
by high cholesterol level , specifically very high levels of low-density
lipoprotein (LDL ,”bad cholesterol”) in the body.
 It is also known as type 2 hyperlipoproteinemia.
 It is caused by a defects on chromosome 19,2,1
 It is an autosomal dominant/autosomal ressiseve disorder.
FACTS ABOUT FH-:

5. What can raise risk of high cholesterol?
 Age. Your cholesterol levels tend to rise as you get older.
 Heredity. High blood cholesterol can run in families.
 Weight. Being overweight or having obesity raises your cholesterol level.
 Unhealthy eating habits, such as eating lots of bad fats. One type, saturated fat, is
found in some meats, dairy products, chocolate, baked goods, and deep-fried and
processed foods. Another type, trans fat, is in some fried and processed foods.
Eating these fats can raise your LDL (bad) cholesterol.
 Lack of physical activity, with lots of sitting and little exercise. This lowers your
HDL (good) cholesterol.
 Smoking, which lowers HDL cholesterol, especially in women. It also raises your
LDL cholesterol.

6. SYMPTOMS-:
Effects that FH can include:
 Cholesterol deposits-yellow patches around the eyelids
(xanthomas),also found accumulating in lumps around in the
hands ,knees , and feet,
 Atherosclerosis-formation of plaque in arteries .this restricts and
can clog the blood supply.
 Fatigue
 Pain
 Indigestion
 Shortness of breath

7. LDL RECEPTOR PATHWAY

11. DIGNOSIS-:
Physical examination
Blood test

12. TREATMENT-:
Lifestyle changes
Drug therapy-
Lovastatin (MEVACOR) –lower total
cholesterol also lowers LDL cholesterol
Pravastatin(PROVACHOL)-lower blood
cholesterol
Simvastatin(zocor)
Fluvastatin(lescol)etc