Case Conference

Familial Chylomicronemia
指導老師 胡啟民主任
報告者 R2 郭乃榕
日期 Mar 11, 2024

Case 1: 3-month male infant presented with fever and vomiting for 1 day
Case 2: 52-year woman referred with recurrent acute pancreatitis
Case 1: 3-mon male infant with fever vomiting for 1 day
History & Initial presentation

• 59 cm (5-15th)/5.9 kg (25th) Proband TC TG HDL-C LDL-C

• T/P/R: 36.5/136/32; BP: D -16 454 5670 9 23
100/55 D -16: 1st TPE 270 2363
• Physical exam: forehead D -15 3195
xanthoma D -14: 2nd TPE 1216
• Milky serum (A) D -7 6820
• Sonogram: splenomegaly D 0: admission 648 4685 236 280
• Birth history: Chinese, full- TPE, therapeutic plasma exchange
term, natural birth, 2.8 TC, total cholesterol
kg/53 cm, breastfed HDL-C, high density lipoprotein cholesterol
LDL-C, low density lipoprotein cholesterol
• Past history: no diabetes, hypothyroidism,
metabolic syndrome, cholestasis, or renal Father 200 653 35 279
failure Grandfather 199 90 54 106
• Family history: parent no consanguineous Mother 196 54 57 112
marriage, no known hereditary diseases; Grandmother 245 82 53 152
father has fatty liver

Huang et al. Clin Chim Acta. 2022;537:112-117.