Hypercholesterolemia Familial

Question: What support groups and genetic counselors are there for the genetic disorder: familial hypercholesterolemia? We are a group of high school students who need to contact a genetic counselor or support group about familial hypercholesterolemia for a biology project. Are there any genetic counselors or groups that you know of?

Answer: Couldn't find any support groups, but I found the NSGC (National Society of Genetic Counselors) website www.nsgc.org. The menu on the left allows you to search for genetic counselors by specialty or by geography. Hope that helps. Sorry I couldn't find a support group!

Question: What is the genotype and phenotype for hypercholesterolemia familial?

Answer: genetype - homozygous mutant for the LDL receptor phenotype - high cholesterol in the blood with impaired uptake into cells

Question: Why dont some ppl that have familial hypercholesterolemia get heart attacks? FH heterozygotes (with meds) dont get heart attacks bcoz of the few LDL receptors but what are the other reasons??

Answer: Authentic article on familial hypercholesterolemia is at: http://www.nlm.nih.gov/medlineplus/ency/…

Question: Familial hypercholesterolemia is associated with a deficiency of which of the following? Choose one: triacylglycerol lipase LDL receptor protein HDL receptor protein HMG-CoA reductase HMG-CoA synthase

Answer: LDL receptor protein the number is too low for cholesterol to be removed from the body so it satys in the blood which is the factor to the hereditary conditon you asked about.

Question: familial hypercholesterolemia? Just want some advice on familial hypercholesterolemia. I believe I have this condition as I first had fasting bloods taken for cholesterol when I was 15yo, 18 years ago and my cholesterol was extremely high then. I had my cholesterol level tested again in july 2006 and it not surprisingly was 7.6mmol/l. My mother is on Simvastatin and several other family members are on statins. I am going to see a different GP as not happy with the one I am seeing, they keep telling me to try harder and come back in 6wks-3months for another cholesterol test. I eat a low fat diet, exercise, take fishoil capsules, and I am not overweight. I commenced Cholesterol Manager tablets from a health shop 2months ago and my cholesterol has gone up again. Could I please have some advice.

Answer: You ask a good question. The short answer is that you should discuss this more with your local doctor. My understanding is that at least 75% of your cholesterol is determined by your genetic makeup, so only 25% is modifiable by diet/exercise etc. In the case of familial hypercholestrolaemia, there is a genetic disorder in the production/how the body manages cholesterol, and you are never going to get it down with diet alone. So if you truely do have this condition, you will most likely need medicine to help reduce your cholesterol. Incidently, most people with familial hypercholestrolaemia usually have cholesterols in excess of 10 mmol/L

Question: Does Familial Hypercholesterolemia always require medication?

Answer: Familial hypercholesterolemia almost always requires medications in addition to weight loss, diet, and exercise. This is in part true as those with this condition are predisposed to premature (age <55 for men < 65 for women) cardiovascular events (such as heart attack and stroke) but also because with newer and safer medications the goals for LDL are much lower and in this case likely to be <70 mg/dL. That having been said I would not consider pharmacologic intervention without sophisticated testing which would include not a traditional lipid profile but also direct LDL measurement, LDL and HDL particle sub types, cardiac CRP, and likely a few others.

Question: Which of the following mutations in the LDL receptor gene can lead to the disease familial hypercholesterolemi Which of the following mutations in the LDL receptor gene can lead to the disease familial hypercholesterolemia? receptor gene deletion receptors are synthesized, but can't be transported from the ER to the Golgi apparatus receptors on the cell surface can't bind LDL particles receptors bind and internalize LDL, but can't be recycled all of the above

Answer: All of the above

Question: what to do to lower cholesterol level in blood? i'm 18 and i've just been diagnosed with hypercholesterolemia (familial), what can i do to control my cholesterol level beside regular exercise or taking drugs (statins)? what type of food should i avoid? and what type of food is proven to reduce LDL or maybe increase HDL?

Answer: First off, it's good that your taking an initiave to be proactive in your health. There are many ways to reduce cholesterol levels as far as eating and lifestyle changes. To begin with, getting your blood lipid levels monitored regularly is important, maintaining an optimum weight, implementing a excercise plan and reducing dietary saturated fats and cholesterols (no more than 300 mg/day) and increasing soluable fiber in the diet such as oat bran, apples, grapefruit, and broccoli, and of course elimaniting tobacco use (if you smoke). The use of plant sterols and stanols has been shown to reduce blood cholesterol levels by actually excreting the cholesterol from the body and decreasing LDL's. Plant sterols can be found in wheat, corn, rye, oats, rice, nuts, and olive oil. Commercially, stanols and sterols can be found in foods fortified with Reducol, salad dressings, certain cereals and even some fruit juices. Statins are the first line of defense drugs in hypercholesterolemia and after that of course your bile acid resins such as questran and nicotinic acids would follow that (niacin) but with the niacin much higher doses are needed to produce its antilipidemic effects (with these much higher doses you get the flushing, nausea, and diarrhea etc.. not very fun side effects that is expected with niacin and so therefore is used as a 3rd line of treatement). Regularly niacin is given 25/mg per day but for lowering cholesterol the usual dose is 2-3 g/day. Also if you are diabetic niacin would not be a good option as it can raise blood glucose levels. Fourth line of defense are your fibric acid agents such as tricor, vytorin etc. So there are many options available to you as far as medications as the above mentioned foods can help you on your path to higher HDL's and lower bad guys. Good luck and cheers.

Question: hypercholesterolemia? Familial hypercholesterolemia is a genetic disorder associated with a defect in the transport of which molecule?

Answer: It is Low density lipoprotein, or LDL. patients will have a marked increase in serum LDL levels.

Question: what should i do to decrease my cholesterol level? i'm still 19 but i got familial hypercholesterolemia, and my cholesterol is EXTREMELY high, it's like 8.4 mmol/L (reference range 2.0-4.6 mmol/L). i'm trying to get it down without any prescription first as i'm still young, and i'm scared of what those drugs' side effects will do to my body. what should i do? (what food to eat, what and how much exercise, etc...) any comprehensive answer will be appreciated! thanks!

Answer: Pl. do the followings and you should see the change in Cholesterol levels: 1Take oats as your Breakfast 25-35 gms in boiled milk. 2.take 10 gms of good quality nuts. 3. Take Fish [2pieces daily] about 60-80 gms.just boiled. 4.Go out for morning walk. 5. Keep your BP under control. 6. Test for Sugar levels both fasting and PP. 7. Avoid junk food. 8. Avoid fried food. 9. Take good amount of vegetable and salad. It should definitely ,over a period of time, bring Cholesterol within reasonable levels.