Skill Checkup: A 43-Year-Old Man With a History of Smoking and Current Pressure in the Middle of the Chest and Dyspnea

Romesh Khardori, MD, PhD, FACP


January 12, 2022

On the basis of the patient's presentation, as well as his personal and family history, familial ligand defective apolipoproteinB-100 (FLDB) is a possible cause of the syndrome seen in this case. This syndrome is caused by an abnormality at the binding site of apolipoprotein B-100, which impedes its role as a ligand for the receptor. Such patients often present with cutaneous manifestations and an increased risk for premature coronary artery disease (CAD).

Still, because the patient has elevated LDL‐C, chronic illnesses such as hypothyroidism, as well as liver or renal impairment, must be ruled out of the differential diagnosis. Hypothyroidism may be asymptomatic, but classic symptoms are nonspecific and including cold intolerance, puffiness, decreased sweating, and coarse skin. Myxedema coma is a severe form of hypothyroidism that results in altered mental status, hypothermia, bradycardia, hypercapnia, and hyponatremia; it commonly occurs in individuals whose disease has not yet been diagnosed or treated. In addition, a history of chronic symptoms — months of fatigue, weight loss, anorexia, nocturia, sleep disturbance, and pruritus — suggests chronic kidney disease, which is unlikely in this case. Acute liver failure can affect young people, but the patient's history is not consistent with this presentation (ie, alcohol use or a family history of liver disease).


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