CASE:
A form 6 students share a news with you.
‘I am shocked when I look at my blood test result. My blood total cholesterol is more than 300 mg/dL, the LDL cholestrol is be more than 220 mg/dL but my triglyceride levels tend to be normal, which are below 150 mg/dL. I am still young! I have a healthy life because I do not want to be like my mother who is having hypercholestrol. Am I having Tangier’s disease. Explain him the condition and things he can do to help himself. Explain what is Tangier’s disease too
‘I am shocked when I look at my blood test result. My blood total cholesterol is more than 300 mg/dL, the LDL cholestrol is be more than 220 mg/dL but my triglyceride levels tend to be normal, which are below 150 mg/dL. I am still young! I have a healthy life because I do not want to be like my mother who is having hypercholestrol. Am I having Tangier’s disease. Explain him the condition and things he can do to help himself. Explain what is Tangier’s disease too
Analysis cause:
- Total cholesterol= more than 300mg/dL
- LDL cholesterol= more than 220 mg/dL
- Triglyceride level= below 150 mg/dL
- Mother having hypercholesterol
- Still young
- Have healthy lifestyle
FOCUS?
1. What is Tangier’s disease ?
2. Why blood cholesterol is higher in familial hypercholesterolemia ?
2. Why blood cholesterol is higher in familial hypercholesterolemia ?
TANGIER DISEASE
Autosomal recessive genetic disorder which is the condition of almost completely absence of HDL (high density level) that functioning as attaching with cholesterol in order for breaking down at liver.
What causes Tangier disease to occur ?
Tangier disease due to mutation in ABCA1 gene which official name is “ATP binding cassette subfamily A member 1.”, which provides instructions for making proteins that transport molecules across cell membrane.
Importance of ABCA1 gene:
ABCA1 gene provides instructions making proteins that transport molecules across membranes.
Symptoms:
●Risk of cardiovascular disease
●Slightly elevated amount of fat in the blood
●Disturbance in nerve function
●Enlarged body
●Orange-colored tonsils
●Often develop atherosclerosis that is accumulation of fatty deposits and scar-like tissue in the lining of the arteries
●Enlarged spleen
●Enlarged liver
●Corneal clouding
●Type 2 diabetes
What causes Tangier disease to occur ?
Tangier disease due to mutation in ABCA1 gene which official name is “ATP binding cassette subfamily A member 1.”, which provides instructions for making proteins that transport molecules across cell membrane.
Importance of ABCA1 gene:
ABCA1 gene provides instructions making proteins that transport molecules across membranes.
- The ABCA1 protein is produced in many tissues, with high amounts found in the liver and in immune system cells called macrophages.
- This protein moves cholesterol and certain fats called phospholipids across the cell membrane to the outside of the cell.
- These substances then picked up by a protein called apolipoprotein and combine to make high-density lipoprotein (HDL)
- HDL= often referred to as “good cholesterol” because high levels of this substance reduce the chances of developing heart and blood vessel disease.
- HDL is a molecule that carries cholesterol and phospholipids through the bloodstream from the body’s tissues to the liver.
- The process of removing excess cholesterol from cells is extremely important for balancing cholesterol levels and maintaining cardiovascular health.
- HDL concentrations= less than 5mg/dL
- Low total cholesterol= below 150mg/dL
- Normal or high triglycerides= more than or equal to 150mg/dL
Symptoms:
●Risk of cardiovascular disease
●Slightly elevated amount of fat in the blood
●Disturbance in nerve function
●Enlarged body
●Orange-colored tonsils
●Often develop atherosclerosis that is accumulation of fatty deposits and scar-like tissue in the lining of the arteries
●Enlarged spleen
●Enlarged liver
●Corneal clouding
●Type 2 diabetes
Why blood cholesterol is higher in familial hypercholesterolemia ?
- Alteration of gene on chromosome number 19 containing information of protein, LDL receptor responsible to clear up LDL cholesterol
WHAT IS HYPERCHOLESTROLEMIA ?
- Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood
- People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease.
- This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries)
- The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart
SYMPTOMS?
- Hereditary. It can be from heterozygous parent but if homozygous parent, it’s the worst.
- Heart disease at young age
- 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
SIMILARITIES BETWEEN TANGIER DISEASE AND HYPERCHOLESTROLEMIA
1. Same blood test result:
●High LDL level
●Normal triglyceride levels
2. Low level of HDL
3.Genetic disorder
●High LDL level
●Normal triglyceride levels
2. Low level of HDL
3.Genetic disorder
CONDITION
The signs and symptoms of Tangier’s disease and familial hypercholestrolemia are almost similar. But, He does not have Tangier Disease, because:
@ he does not have mild hypertriglycemia
@ he does not experienced any physical symptoms such as
cloudy cornea, enlarged tonsils, orange or yellow tonsils
@ he does not experienced any internal defects such as
enlarged spleen or liver and premature ather0sclerosis
@ he does not have mild hypertriglycemia
@ he does not experienced any physical symptoms such as
cloudy cornea, enlarged tonsils, orange or yellow tonsils
@ he does not experienced any internal defects such as
enlarged spleen or liver and premature ather0sclerosis
CONCLUSION FOR CASE
He have familial hypercholesterolemia.
Because:
•Have high LDL (Low Density Lipoprotein)
•Total of cholesterol more than 300 mg/dL
•Mother have hypercholesterolemia and this is inherited disease.
•Still young. Symptom of familial hypercholesterolemia is get disease in young age.
•Have healthy lifestyle. Being familial hypercholesterolemia is not mean not have healthy lifestyle.
Action must take is
•Make therapy with doctor
•Change to healthy dietary.
Because:
•Have high LDL (Low Density Lipoprotein)
•Total of cholesterol more than 300 mg/dL
•Mother have hypercholesterolemia and this is inherited disease.
•Still young. Symptom of familial hypercholesterolemia is get disease in young age.
•Have healthy lifestyle. Being familial hypercholesterolemia is not mean not have healthy lifestyle.
Action must take is
•Make therapy with doctor
•Change to healthy dietary.