Mr. Wayne is a 38-year-old man with a significant family history of elevated cho
ID: 3520541 • Letter: M
Question
Mr. Wayne is a 38-year-old man with a significant family history of elevated cholesterol levels. His father died at age 42 from a massive heart attack secondary to elevated cholesterol and triglycerides, and two of his older siblings are currently taking medications to lower their cholesterol levels. Mr. Wayne makes an appointment to discuss his risk for hypercholesterolemia. The nurse recognizes that Mr. Wayne is at risk for familial hypercholesterolemia because this is an autosomal dominant inherited condition. (Learning Objective 2)Describe the pattern of autosomal dominant inheritance.
Mr. Wayne asks what chance his children have of developing familial hypercholesterolemia. How should the nurse respond?
Explain the phenomenon of penetrance observed in autosomal dominant inheritance.
Mr. Wayne is a 38-year-old man with a significant family history of elevated cholesterol levels. His father died at age 42 from a massive heart attack secondary to elevated cholesterol and triglycerides, and two of his older siblings are currently taking medications to lower their cholesterol levels. Mr. Wayne makes an appointment to discuss his risk for hypercholesterolemia. The nurse recognizes that Mr. Wayne is at risk for familial hypercholesterolemia because this is an autosomal dominant inherited condition. (Learning Objective 2)
Describe the pattern of autosomal dominant inheritance.
Mr. Wayne asks what chance his children have of developing familial hypercholesterolemia. How should the nurse respond?
Explain the phenomenon of penetrance observed in autosomal dominant inheritance.
Mr. Wayne is a 38-year-old man with a significant family history of elevated cholesterol levels. His father died at age 42 from a massive heart attack secondary to elevated cholesterol and triglycerides, and two of his older siblings are currently taking medications to lower their cholesterol levels. Mr. Wayne makes an appointment to discuss his risk for hypercholesterolemia. The nurse recognizes that Mr. Wayne is at risk for familial hypercholesterolemia because this is an autosomal dominant inherited condition. (Learning Objective 2)
Describe the pattern of autosomal dominant inheritance.
Mr. Wayne asks what chance his children have of developing familial hypercholesterolemia. How should the nurse respond?
Explain the phenomenon of penetrance observed in autosomal dominant inheritance.
Explanation / Answer
Autosomal dominant is one several ways that a trait or disorder can be passed down through families.In an autosomal dominant disease, if you inherit the abnormal gene from only one parent, you can get the disease.Often one of the parents may also have the disease.
Elevated levels of non-HDL cholesterol and LDL in the blood may be an consequence of an unhealthy diet, obesity, inherited (genetic) disease (such as LDL receptor mutations in familial hypercholestemia), or the presence of type 2 diabetes and an underactive thyroid.
Cholesterol is a fatty substance that occurs naturally in the body. It perfoms several vital functions LDL and HDL cholesterol are present LDL cholesterol is an bad cholesterol which harmful to the body
Most people with high cholesterol dont have any symptoms until cholesterol related atherosclerosis causes significant narrowing of the arteries leading to their hearts or brains. The result can be heart related chest pain (angina) or other symptoms of coronary artery disease.
About 1 out of every 500 people has an inherited disorder called familial hypercholestemia, which can cause extremly high cholesterol levels (above 350 milligrams per deciliter).People witth this disorder can develop nodules filled with cholesterol(xanthomas) over various tendons.Especially the Achillies tendons of the lower ( cholesterol deposits also can occur on the eyelids where they are called xanthelasmas.
Each gene has two copies
Traits (such as eye color or risk for disease) are passed to the children by genes. Each person has two genes for each trait. One gene is from the father and one is from the mother.
Autosomal dominant inheritence refers to conditions caused by changes (mutations) in genes located in one of the 22 pairs of autosomes.Autosomes are the numbered chromosomes that are same in all males and females.Autosomal conditions occur in both men and women and are not related to whether a person is male or female.
Affected inherint one changed copy
A parent with an autosomal dominant disorder will pass on either a changed copy of the gene or a normal copy of the gene to each of his or her children.In general, if a child inherits the changed copy of the gene, he or she affected and therefore has the disorder.
A child who inherits normal (unchanged) copies of the gene will not inherit the disorder.
One changed copy dominates
A person needs to inherit only one changed copy of the gene pair in order to be effected with a specific autosomal dominant disorder. The changed copy dominates the pair of genes. In an autosomal dominant disorder one changed copy from one parent causes the child to have the disorder.
Who is affected
A child who inherits the changed copy of the gene will have Marfan syndrome.People with marfan can pass the changed gene to their children. A person with marfan has a 1 in 2 (50 percent) chance of passing on the changed copy of the gene and a 1 in 2 (50 percent) chance of passing on the normal copy of the gene of each child.
So, there is 50-50 chance that each child of a person with marfan syndrome will inherit marfan syndrome.This 50-50 chance is same for each and every pregnancy.
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