What is the likely nature of this patient's disease, taking into account all the clinical data and family history? In your answer, explain how measurements of cholesterol and LDL may relate to the other skin and heart symptoms, as well as the father's eye condition. Your patient is a four-year-old boy. He has had cutaneous xanthomas on his Achilles tendonsand on the extensor surfaces of his arms, knees and elbows since he was one year old.Analysis of blood samples revealed a serum cholesterol level greater than 1000 mg per decilitreand a triglyceride level of 170 mg per decilitre. The patient was started on low-fat and lowcholesterol diet and began medication with atorvastatin and ezetimibe. After some months, thepatient's cholesterol levels still ranged between 500 mg per decilitre and 600 mg per decilitre.Both parents had high cholesterol levels and the father had arcus senilis corneae.A magnetic resonance angiogram (MRA) of the patient's heart revealed mild supra-valvularaortic narrowing, distal transverse arch and proximal descending aorta narrowing and a luminal irregularity of descending aorta.The patient remained on maximal medical therapy and dietary modifications, and after threeyears he continued to develop new cutaneous xanthomas around his ankles and at the base ofhis fingers. His cholesterol level persisted in the range 500-600 mg per decilitre and he had noregression of cardiac and vascular lesions on MRA.He underwent a liver transplant from a deceased donor. Atorvastatin was continuedpost-operatively. Six months after the transplant, the patient's xanthomas had regressedsubstantially and were much softer. There were significant improvements in the degree of aorticwall thickness compared to the initial MRA. Three years after transplant, the patient continued todo well, and the cutaneous xanthomas had resolved. The patient has been maintainedimmunosuppressants to prevent rejection of the liver, and also atorvastatin. At the last follow-up,the serum cholesterol level was 152 mg/decilitre and LDL 75 mg/decilitre.

The bad cholesterol, elevated low-density lipoprotein (LDL), is a significant contributor to heart…

What is the likely nature of this patient's disease, taking into account all the clinical data and family history? In your answer, explain how measurements of cholesterol and LDL may relate to the other skin and heart symptoms, as well as the father's eye condition.

What is the likely nature of this patient's disease, taking into account all the clinical data and family history? In your answer, explain how measurements of cholesterol and LDL may relate to the other skin and heart symptoms, as well as the father's eye condition.

Principles Of Pharmacology Med Assist

6th Edition

ISBN:9781337512442

Author:RICE

Publisher:RICE

Chapter11: Administration Of Nonparenteral Medications

Section: Chapter Questions

Problem 21RQ

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