Of the following physical findings found in some patients with hyperlipidemia, which one is most likely to be found in a 17-year-old boy with heterozygous familial hypercholesterolemia?

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Pediatric Endocrine Nursing Questions Questions

Question 1 of 5

Of the following physical findings found in some patients with hyperlipidemia, which one is most likely to be found in a 17-year-old boy with heterozygous familial hypercholesterolemia?

Correct Answer: D

Rationale: Heterozygous familial hypercholesterolemia often causes tendon xanthomas, especially Achilles, in adolescents/young adults.

Question 2 of 5

The most useful therapeutic approach to the patient in the previous two questions is

Correct Answer: C

Rationale: NTBC (nitisinone) is the standard treatment for tyrosinemia type I, reducing toxic metabolites.

Question 3 of 5

Matching: Mutation in KIT gene

Correct Answer: D

Rationale: Piebaldism results from KIT gene mutations, causing patchy depigmentation.

Question 4 of 5

To evaluate the patient in the previous question, all of the following are appropriate EXCEPT

Correct Answer: D

Rationale: 17-hydroxyprogesterone is for congenital adrenal hyperplasia, not organic acidemia evaluation.

Question 5 of 5

Matching: 3-Methylglutaconic aciduria type II

Correct Answer: D

Rationale: Type II (Barth syndrome) is X-linked with cardiomyopathy.

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