A 19-Year-Old With Hypercholesterolemia, Transaminitis, and IBD

Vivian Vega, MD; Antonia Fernandez, MD; Simon S. Rabinowitz, MD, PhD; Meredith E. Pittman, MD


December 12, 2022

Editor's Note:
The Case Challenge series includes difficult-to-diagnose conditions, some of which are not frequently encountered by most clinicians but are nonetheless important to accurately recognize. Test your diagnostic and treatment skills using the following patient scenario and corresponding questions. If you have a case that you would like to suggest for a future Case Challenge, please contact us.


A 19-year-old who received a diagnosis of ileocolonic Crohn's disease at age 5 years is referred by his primary pediatrician after laboratory studies performed at his annual visit revealed dyslipidemia and elevated liver enzyme levels. A fasting lipid panel demonstrated an elevated total cholesterol level of 232 mg/dL (reference range, < 170 mg/dL), a triglyceride level of 125 mg/dL (reference range, 40-163 mg/dL), and a low-density lipoprotein cholesterol level of 114 mg/dL (reference range, < 100 mg/dL). His aspartate aminotransferase (AST) level was 192 U/L (reference range, 0-35 U/L), alanine aminotransferase (ALT) level was 149 U/L (reference range, 7-56 U/L), total bilirubin level was 0.9 mg/dL (reference range, 0.3-1.0 mg/dL), and alkaline phosphatase (ALP) level was 534 U/L (reference range, 44-147 U/L).

The patient reports that he has been completely asymptomatic. At the time of the pandemic, he had not followed up with his physicians for 4 years and had stopped taking all of his medications.

His most recent gastroenterology visit before the current one was 5 years prior. At that time, he had decided to stop taking 6-mercaptopurine and mesalamine for about 1 year. Laboratory studies performed at that visit revealed that his AST and ALT levels were slightly increased to the upper limits of normal, and the plan was to repeat them at the next visit.

During the current visit, he once again reports that he has had no symptoms, including nighttime bowel movements, diarrhea, hematochezia, tenesmus, abdominal pain, icteric sclerae, rash, oral ulcers, and generalized pruritus. He passes a painless, formed bowel movement daily, with no blood.

The patient attends college full time as an honor student and works part time. He is sexually active with a female partner and consistently uses condoms. He denies the use of alcohol, tobacco products, vaping, and prescription or illicit drugs, including over-the-counter, internet, and health food store medications.


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