Ace the Case: A 28-Year-Old Man With Hepatomegaly and Dyslipidemia

Case Presentation

A 28-year-old man is seen for a routine physical exam.

Current medications: none

Past medical history: non-contributory

He denies alcohol or drug abuse

Family history: His mother and father are taking medication for hypercholesterolemia. His father had a myocardial infarction at age 50.


BP: 144/82 mm Hg bilaterally; BMI: 24.3 kg/m2; Waist circumference: 41 inches; Pulse 74 per minute; Respirations 12 per minute

Hepatomegaly of 12 cm is noted (non-tender); spleen not palpable

The remainder of the physical is non-remarkable

Labs: TC: 211 mg/dL; LDL-C: 172 mg/dL; HDL-C: 25 mg/dL; non-HDL-C: 186 mg/mL; TG: 118 mg/dL;

A1C: 5.2%; eGFR 98 mL/min/1.73 m2; TSH, CBC, Urinalysis, Electrolytes are normal

Alkaline phosphatase: 85 units/L

Alanine aminotransferase: 116 units/L

Aspartate aminotransferase: 89 units/L

Gamma glutamyl transpeptidase: 225 mg/dL

Hepatitis C antibodies: negative

Hepatitis B core antibodies and surface antigen and antibodies: negative

Hepatitis A antibodies: negative

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Of those listed below, which test would provide the best information regarding his possible diagnosis?
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Correct answer: D.

Rationale: With the signs and symptoms presented, lipoprotein lipase deficiency should be considered. Measurement of LAL using dried blood spots (DBS) can be utilized to assess the patient for this deficiency.1 Lalistat is a specific inhibitor of LAL that allows the determination of LAL in DBS.1 Results show the method differentiates clearly between normal controls, carriers, and affected cases.1