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