Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.
A 55-day-old boy, G2P2, who was delivered by cesarean section in full-term pregnancy and was breast-fed, presented at 30 days of age with a short history of brown looser stools, two or three times a day, medium in amount. When he was 40 days old, the baby’s face became pale without any petechiae or ecchymoses on skin, and the color of the feces became deeper and deeper till it became completely dark. The local hospital found that the blood of the baby is pink; they were confused and suggested that he be admitted to our hospital. Physical examination revealed a well-developing baby, with a severe anemia appearance. The head circumference of the baby was 40 cm, and the weight of the baby was 5.1 kg. There were two yellow small ulcers in his palate. His abdomen was soft, and the edge of the liver was 2 cm below the right costal margin, while the spleen was palpable 1 cm below the left costal margin. Both the liver and the spleen were soft and smooth. The limbs were normal. There was not any family history of the hyperlipidemia, xanthoma, or pancreatitis. Fasting serum lipids, which included triglyceride (TG) and cholesterol (CHOL) of the baby’s parent, were normal. Laboratory examinations include the baby blood routine testing which showed that the hemoglobin (Hb) cannot be tested, while it included red blood cell counts (RBCs) of
A 60-day-old boy, G1P1, whose birth weight is 3.45 kg, was easily delivered and breast-fed. When he was 40 days old, the baby face looked pale, and it went more and more pale. At the age of 50 days, the baby showed a dark green mushy stool with a little blood, three or four times a day, medium in amount, accompanied with cough and polypnea. The baby was admitted to the local hospital, and the blood was found to be pink; for this reason the hemoglobin and blood type could not be tested. The baby was transfused with the washed red blood cells of O type and was given antibiotics; after these arrangements, the baby’s face turned red and the polypnea was gone. In order to get further diagnosis, his parent brought him to our hospital. We did a careful physical examination to the baby. The baby was developing well, with a medium anemia appearance. His head circumference was of 38 cm, and his weight was 5 kg. The abdomen was soft, and the edge of the liver was 4 cm below the right costal margin, while the spleen was palpable and 3 cm below the left costal margin. Both the liver and spleen were soft and smooth. The limbs were normal. There was not any family history of the hyperlipidemia, xanthoma, or pancreatitis. Fasting serum lipids including triglyceride (TG) and cholesterol (CHOL) of the baby’s parent were normal. Laboratory examinations were as follows: Hb could not be tested, RBC
Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase (LPL) or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase [
There is not special drug for these patients, the dietary modification plays a key role in the management of this disease. Concerning the diet, fat should be restricted to <20 g/day and <15% of the total caloric intake, so that triglyceride levels are maintained below 1500 mg/d, and the TG level should be kept below 16.94 mmol·L−1. Medium-chain triglycerides are the preferred source of dietary fat, but it should not be over 0.5 g·kg−1·d−1. Sticking to the fat-restricted diet for a long time, the abdominal pain will be relieved, or even disappear, and liver and spleen will become normal. The coronary artery disease will not be complication, and they can live as long as the others. The two babies in our paper both took the treatment principle as above and got very good results. Nowadays, the key point in treating this disease is to dignose early and to limit the diet; then good results can be obtained.