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Doctor insights on: Familial Combined Hyperlipoproteinemia

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Dr. Terrence Cohen
4 doctors shared insights

Hyperlipoproteinemia (Definition)

Please consult this site for an introduction ...Read more


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How is familial adenomatous polyposis inherited?

How is familial adenomatous polyposis inherited?

Autosomal dominant: Enter omim in your browser and go to the database of all inherited diseases. Autosomal dominant means that affected individuals have one normal and one abnormal gene copy, the abnormal one dominating to cause disease. An affected person has a 50% chance to pass on the abnormal gene and fap with each pregnancy. ...Read more

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How is familial adenomatous polyposis inherited?

How is familial adenomatous polyposis inherited?

Autosomal Dominant: Fap is inherited in an autosomal dominant fashion. This means that if one parent has the gene, and the other parent doesn't, each child has a 50% chance of receiving the gene for fap. The disease causes hundreds of polyps to form in the colon (see the picture), leading to colon cancer. ...Read more

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Is hereditary angioedema type III a genetic mutation?

Is hereditary angioedema type III a genetic mutation?

The big unknown: This is a big unknown question, some people have a mutation that can cause type iii and others have an unkown kind that responds to treatments of hae. ...Read more

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Is it possible that infants with homozygous familial hypercholesterolemia develop xanthomas or xanthelasmas?

Is it possible that infants with homozygous familial hypercholesterolemia develop xanthomas or xanthelasmas?

Yes: There are plenty of other possible causes of xanthomas in kids, elbows ; butt. Especially if they're on the knees, some bloodwork would be a great idea. ...Read more

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What are xanthomata and familial hypercholesterolaemia?

Lipid Deposits: Familial hypercholesterolemia (fh) is a genetic disorder causing decreased clearance of LDL from blood. Most patients get a defective gene from on parent causing heterozygous fh (about 1 in 500 children). Rarely, genes from both parents are defective giving homozygous fh (1 in 1, 000, 000). Beyond high LDL levels, lipid deposits called xanthomas, can occur in tendons on the back of the heal or hands. ...Read more

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Can infants with homozygous familial hypercholesterolemia develop xanthomas or xanthelasmas? What are your expert opinions?

Can infants with homozygous familial hypercholesterolemia develop xanthomas or xanthelasmas? What are your expert opinions?

Gene dose effect: Hi. Is the infant homozygous or heterozygous for FH? Homozygotes can develop tendon xanthomata or xanthelasma in childhood. Many heterozygotes don't ever get xanthomata. If the infant is a homozygote, he/she has a tough road ahead; heterozygotes too, but very tough for homozygotes. Good luck! ...Read more

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Is hypertensive atherosclerotic cardiovascular disease hereditary?

Is hypertensive atherosclerotic cardiovascular disease hereditary?

Possibly: Hypertension may have many causes, even in the same person. Some of these may be hereditary. ...Read more

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How's fatal familial insomnia inherited?

How's fatal familial insomnia inherited?

Autosomal dominant : Transmission is .Autosomal dominant, meaning the gene on one of the non-sex chromosomes is always expressed, even if only one copy is present. ...Read more

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Does a dominant or recessive allele cause severe combined immunodeficiency?

Does a dominant or recessive allele cause severe combined immunodeficiency?

Not an easy answer: A person has two copies (or alleles) for each gene. One inherited from each parent. Dominant alleles are associated to clinical manifestations even when the other allele is normal. Two recessive alleles are needed to produce clinical manifestations. One recessive allele and one normal would result in a state called 'carrier', with no clinical symptoms. ...Read more

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Is alzheimer's disease a hereditary trait in extended families?

Is alzheimer's disease a hereditary trait in extended families?

Yes it can: There are some rare families where 50% of the members inherit a bad gene and develop alzheimer's disease. Very often, they develop the disease in relatively early age. ...Read more

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Is obesity recessive or dominant?

Is obesity recessive or dominant?

It's complicated: There is no single gene for obesity. There are at least 30 different genes related to obesity (probably many more); some are recessive and some are dominant. but even amongst those who have a genetic predisposition, diet and lifestyle still play a major role. Not everyone with genetic tendencies to obesity become obese. See http://tinyurl.com/h4gllx8 ...Read more

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How is is familial hyperlipidemia 2A different fm 2B and other types?

How is is familial hyperlipidemia 2A different fm 2B and other types?

See below: 2A has excess LDL and 2b has excess LDL and VLDL. Consult this site for more information. http://www.gpnotebook.co.uk/simplepage.cfm?ID=x20020617063512021840 For good health - Have a diet rich in fresh vegetables, fruits, whole grains, low fat milk and milk products, nuts, beans, legumes, lentils and small amounts of lean meats. Avoid saturated fats. Exercise at least 150 minutes/week and increase the intensity of exercise gradually. Do not use tobacco, alcohol, weed or street drugs in any form. Practice safe sex. ...Read more

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How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

Because it is: No disrespect is intended. Two defective copies of the gene atp7b, one from each carrier parent, renders the person incapable of unloading copper from cells that need to lose it. ...Read more

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Does ADHD combined type run in families?

Does ADHD combined type run in families?

Heredity is the most: Common underlying factor in development of adhd; heritability is estimated ~ 76%. Molecular genetic studies show specific alleles (alternate forms of a gene found at the same site on a chromosome) in family members with adhd differ from those of family members without adhd. Environmental factors before & after birth contribute, also. Multiple candidate genes are being studied; stay tuned. ...Read more

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Is tay-sach's disease associated with developing other genetic conditions?

Possibly: Because tay-sach's disease is one of several genetic diseases that can occur in people of ashkenazi jewish background, when screening is done for this disorder, usually several other disease states are screened for as well. This is a very complicated area to discuss and genetic counselling is best left to experts in this area. ...Read more

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Is obesity a dominant or recessive trait?

Is obesity a dominant or recessive trait?

Explanation : Neither. Obesity do not have even cleat trait. Too many factors play roles: lifestyle and diet, physical activity are the most important. ...Read more