96-Esraa Sobhi Mohamed Abdelaziz.. 97-Esraa Sabry Mohamed Ahmed 98-Esraa Taher Mohamed Elhossieny. 100-Esraa Ezzat Afifi Abdelhady. 102-Esraa Ali Eldesoky Maged. 103-Esraa Eid yousef Khashan. 104-Esraa Maher Hashem Ahmed. 105-Esraa Mohamed Aboelmagd. 106-Esraa Mohamed Ahmed Khedr. 107-Esraa Mohamed Abdelghani basyouni.

I NTENDED LEARNINNG OUTCOMES (ILOS): By the end of this presentation you will be able to: 1- Define hypercholesterolemia. 2- Explain the pathway of cholesterol synthesis and its transport. 3- Give an introduction to the causes of the disease. 4- Explain the biochemical causes of the disease. 5- Enumerate the symptoms of the disease and know how to diagnose it. 6- Know how to treat this disease. 7- Explain life style of the patient. 8- Summarize this case presentation.

- H ypercholesterolemia is also called dyslipidemia. -It the presence of high level of cholesterol in the blood. -Cholesterol is a sterol,one of the three major classes of lipids. -It is transported by lipoproteins (VLDL, LDL, IDL, HDL ). Disease definition:-

Cholesterol synthesis pathway Acetoacyl coA

-Cholesterol transport and sources:-

It is caused due to a combination of environmental and genetic factors. - Environmental factors include obesity and dietary choices,Foods high in saturated fats and Cholesterol,. This is the most common cause of hypercholesterolemia as excess of saturated fats may modestly increase LDL (bad) cholesterol level. - Genetic contributions are usually due to the additive effects of multiple genes, though occasionally may be due to a single gene defect,and so causes familial hypercholesterolaemia. -There are some secondary causes including: diabetes mellitus type 2, alcohol, dialysis, nephrotic syndrome, hypothyroidism, Cushing’s syndrome, anorexia nervosa, medications (thiazide diuretics,glucocorticoides and beta blockers )

NOW" CHOLESTEOL" is in blood carried throughout ""LDL"… - FH results from defects in the uptake and degradation of LDL via the LDL-receptor pathway, commonly caused by:

.In early stage the patient have no clear symptoms. Later on: chronically elevated serum cholesterol causes atherosclerosis which will lead to narrowing or occlusion of the artery involved. The occlusion may be sudden or gradual. 1- If the occlusion is sudden: (In cronaries it will laed to Myocadial infarction or heart attack) – ( In brain B.VS it (will lead to stroke )

2- Gradual occlusion (ischemia)” Brain Dizzness. Impairment of balance Aphasia. Leg -calf pain during walking Intestine Abdominal pain after eating a meal Body Tingling on one side Special physical findings Xanthelasma palpebrarum. Xanthotomata. Arcus senilis. Transient visual loss.

We must do blood test to chek cholesterol levels it is called “a lipid :panel or lipid profile” it typically reports. (Total cholesterol-LDL cholesterol-HDL cholesterol-Triglycrides) - For the most accurate measurements, patient should not eat or drink anything (other than water) for nine to 12 hours before the blood sample is taken. Normal measurements : 1-cholesterol: mg/dl. 2-LDL cholesterol: mg/dl (near ideal ).. 3-HDL cholesterol : 60 mg/dl 4- Triglycrides: below 150 mg/dl. :Diagnosis

Aim of treatment Diet of the patient: -Medications: - Bile acids sequestrants. -Bile acid binding resins including cholestipol” cholestyramin”. - Statins, also called HMG-CoA reductase inhibitors.

In addition to dietary changes or medication, people with high cholesterol should try to control their other risk by:- 1- keeping blood pressure at normal level. 2- not smoking. 3- controlling your blood sugar. 4- maintaining or losing weight and following a regular exercise schedule.

1-Hypercholesterolemia means high cholesterol levels in the blood. 2-Cholesterol is transported by LDL. 3-FH is caused by genetic mutations such as (LDL receptor gene-Apolipoprotein B gene). 3-Hypercholesterolemia symptoms affect (eye-leg- body position-brain-intestine. 4-To diagnose the disease we need to do a blood test. 5-The treatment includes (special diet – some medications – specific life style).