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Authors: Robert Daum, Jason Canel
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medical therapy and further evaluation for secondary causes of hyperlipidemia.
10. (D) Secondary causes of hyperlipidemia include
• exogenous factors such as obesity, isotretinoin use, oral contraceptive use
• endocrine or metabolic diseases including hypothyroidism
• obstructive liver disease
• renal failure
• other factors including anorexia or a high-fat and high-cholesterol diet
11. (B) Familial combined hyperlipidemia is the most common etiology of inherited hyperlipidemias in children. It occurs with an incidence of approximately 1 in 300 individuals and is inherited in an autosomal dominant fashion. Laboratory analysis reveals elevation of cholesterol and/or elevation of triglyceride levels. The etiology of familial combined hyperlipidemia is a result of an increased apoB-100 production by the liver related to multiple genetic factors. The clinical course is characterized by late onset of coronary artery disease and peripheral vascular disease. Familial hypercholesterolemia occurs in approximately 1 in 500 individuals and is inherited in an autosomal codominant fashion. In the heterozygous form, there are elevated serum cholesterol levels and a high risk of premature coronary artery disease. The etiology of the hypercholesterolemia is a result of a decrease in the number of LDL receptors. In the homozygous form, there is severe hypercholesterolemia with increased risk of myocardial infarction. The etiology for hypercholesterolemia is nearly complete absence of LDL receptors. Mild hypertriglyceridemia is associated with obesity, glucose intolerance, hyperuricemia, and increased alcohol intake. Severe hypertriglyceridemia is a result of a deficiency of lipoprotein lipase and is associated with recurrent pancreatitis, hepatosplenomegaly, and xanthomas.
12. (B) In patients with hypercholesterolemia, therapy is not indicated for children younger than 2 years of age. In children older than 2 years of age, initial treatment includes the Step 1 diet recommended for approximately 3 months. If the serum cholesterol level remains elevated, then a Step 2 diet is recommended for 6-12 months. If the level continues to be elevated and the child is older than 10 years of age with an LDL higher than 190 or an LDL higher than 160 and a family history of hypercholesterolemia, then bile acid sequestrants such as cholestyramine are the first-line choice of medical therapy. In selected cases, lovastatin has been reported to be of beneficial use. However, it is currently not recommended for routine use.
13. (A) The patient in this scenario most likely carries the diagnosis of Marfan syndrome, an autosomal dominant genetic disorder due to a mutation in the fibrillin gene on chromosome 15. This leads to defective connective tissue disease. The clinical features include a long thin face, tall stature with the arm span greater than the height, pectus excavatum or carinatum, scoliosis, lens subluxation, and high arched palate ( Figure 5-1 ). There is a family history of Marfan syndrome in 70-85% of cases. Patients with hypertrophic cardiomyopathy do not have the physical stigmata described in this case, but it is an important diagnosis in cases where there is a family history of sudden unexpected death. Patients with Turner syndrome have physical stigmata consistent with short stature and webbed neck; patients with Down syndrome also have short stature with characteristic facial features.
FIGURE 5-1. Pectus excavatum. Adolescent with a pectus excavatum deformity. Note that the most pronounced sternal curvature is in the lower half. (Reproduced, with permission, from Doherty G. Current Diagnosis & Treatment: Surgery, 13th ed. New York: McGraw-Hill; 2010: Fig. 43-4.)
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14. (A) The most common heart lesions occurring in patients with Marfan syndrome include mitral valve prolapse and dilatation of the aortic root due to abnormalities in the connective tissue as a result of a mutation in the fibrillin gene. Aortic stenosis
10. (D) Secondary causes of hyperlipidemia include
• exogenous factors such as obesity, isotretinoin use, oral contraceptive use
• endocrine or metabolic diseases including hypothyroidism
• obstructive liver disease
• renal failure
• other factors including anorexia or a high-fat and high-cholesterol diet
11. (B) Familial combined hyperlipidemia is the most common etiology of inherited hyperlipidemias in children. It occurs with an incidence of approximately 1 in 300 individuals and is inherited in an autosomal dominant fashion. Laboratory analysis reveals elevation of cholesterol and/or elevation of triglyceride levels. The etiology of familial combined hyperlipidemia is a result of an increased apoB-100 production by the liver related to multiple genetic factors. The clinical course is characterized by late onset of coronary artery disease and peripheral vascular disease. Familial hypercholesterolemia occurs in approximately 1 in 500 individuals and is inherited in an autosomal codominant fashion. In the heterozygous form, there are elevated serum cholesterol levels and a high risk of premature coronary artery disease. The etiology of the hypercholesterolemia is a result of a decrease in the number of LDL receptors. In the homozygous form, there is severe hypercholesterolemia with increased risk of myocardial infarction. The etiology for hypercholesterolemia is nearly complete absence of LDL receptors. Mild hypertriglyceridemia is associated with obesity, glucose intolerance, hyperuricemia, and increased alcohol intake. Severe hypertriglyceridemia is a result of a deficiency of lipoprotein lipase and is associated with recurrent pancreatitis, hepatosplenomegaly, and xanthomas.
12. (B) In patients with hypercholesterolemia, therapy is not indicated for children younger than 2 years of age. In children older than 2 years of age, initial treatment includes the Step 1 diet recommended for approximately 3 months. If the serum cholesterol level remains elevated, then a Step 2 diet is recommended for 6-12 months. If the level continues to be elevated and the child is older than 10 years of age with an LDL higher than 190 or an LDL higher than 160 and a family history of hypercholesterolemia, then bile acid sequestrants such as cholestyramine are the first-line choice of medical therapy. In selected cases, lovastatin has been reported to be of beneficial use. However, it is currently not recommended for routine use.
13. (A) The patient in this scenario most likely carries the diagnosis of Marfan syndrome, an autosomal dominant genetic disorder due to a mutation in the fibrillin gene on chromosome 15. This leads to defective connective tissue disease. The clinical features include a long thin face, tall stature with the arm span greater than the height, pectus excavatum or carinatum, scoliosis, lens subluxation, and high arched palate ( Figure 5-1 ). There is a family history of Marfan syndrome in 70-85% of cases. Patients with hypertrophic cardiomyopathy do not have the physical stigmata described in this case, but it is an important diagnosis in cases where there is a family history of sudden unexpected death. Patients with Turner syndrome have physical stigmata consistent with short stature and webbed neck; patients with Down syndrome also have short stature with characteristic facial features.
FIGURE 5-1. Pectus excavatum. Adolescent with a pectus excavatum deformity. Note that the most pronounced sternal curvature is in the lower half. (Reproduced, with permission, from Doherty G. Current Diagnosis & Treatment: Surgery, 13th ed. New York: McGraw-Hill; 2010: Fig. 43-4.)
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14. (A) The most common heart lesions occurring in patients with Marfan syndrome include mitral valve prolapse and dilatation of the aortic root due to abnormalities in the connective tissue as a result of a mutation in the fibrillin gene. Aortic stenosis
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