Loyola-MacNeal Hospital, 3249 S Oak Park Ave, Berwyn, IL, 60402, USA.
Edward Hines, Jr. VA Hospital/Loyola University Medical Center, 5000 5th Ave, Hines, IL, 60141, USA.
J Med Case Rep. 2021 Jan 8;15(1):5. doi: 10.1186/s13256-020-02609-0.
Familial chylomicronemia is an extremely rare disease. Lipoprotein lipase deficiency, lipoprotein defect or lipoprotein receptor defect are the main genetic causes of familial chylomicronemia.
We report a rare case of hypertriglyceridemia which was diagnosed at 24 days after birth. A newborn south east Asian baby born for G3P2A1 mother was presented with hematuria at 24 days at the hospital. The patient's family history is significant for pink blood in an elder sibling who died within a few months of birth without a proper diagnosis. Physical examination was not significant for any findings. Urinalysis revealed numerous RBC in the urine. Blood draw to perform renal function test revealed a characteristic pink blood. Baby's blood was normal and red in color at the time of birth. During the present visit, although most of the blood test were not able to be carried out by the regular laboratory instruments, the patient's lipid profile was alarmingly high with triglyceride levels over 4000 mg/dL. Due to a very high triglyceride level in a neonate and a significant familial history, a genetic cause of hypertriglyceridemia is suspected. Upon diagnosis, baby was discontinued of breast feeding completely and was given a special diet devoid of triglyceride and containing medium chain fatty acid diet and was also started with fenofibrate. After a month and a half, follow up tests were conducted which showed the triglyceride level was reduced to 1300 and a reversal of the blood color from pink to red. Since the imported diet was extremely expensive for the family, the patient was put on skimmed milk with medium-chain triglyceride (MCT) oil. With 6 weeks of treatment, baby's condition has improved and is thriving well.
Our case reports an extremely rare and fatal condition and illustrated the significance of timely diagnosis and intervention for saving the life of the baby.
家族性乳糜微粒血症是一种极其罕见的疾病。脂蛋白脂肪酶缺乏、脂蛋白缺陷或脂蛋白受体缺陷是家族性乳糜微粒血症的主要遗传原因。
我们报告了一例罕见的高甘油三酯血症病例，该病例在出生后 24 天被诊断出。一名出生于东南亚的 G3P2A1 母亲的新生儿，在 24 天大时因血尿在医院就诊。患者的家族史中，有一名哥哥在出生后几个月内出现粉红色血液，但未得到明确诊断而死亡。体格检查无明显异常。尿液分析显示尿液中红细胞数量众多。血液检查以进行肾功能测试显示血液呈典型的粉红色。婴儿出生时血液颜色正常且呈红色。在本次就诊时，尽管大多数血液检查无法通过常规实验室仪器进行，但患者的血脂谱异常高，甘油三酯水平超过 4000mg/dL。由于新生儿的甘油三酯水平非常高且家族病史显著，因此怀疑存在高甘油三酯血症的遗传原因。诊断后，婴儿完全停止母乳喂养，并给予不含甘油三酯且富含中链脂肪酸的特殊饮食，并开始服用非诺贝特。一个半月后，进行了随访检查，结果显示甘油三酯水平降至 1300，血液颜色从粉红色变为红色。由于进口饮食对家庭来说非常昂贵，患者开始饮用脱脂牛奶和中链甘油三酯（MCT）油。经过 6 周的治疗，婴儿的病情有所改善，情况良好。
我们的病例报告了一种极其罕见且致命的疾病，并说明了及时诊断和干预对于挽救婴儿生命的重要性。
