Primary hyperlipidemia is a group of diseases caused by genetic defects involved in the synthesis, transport and metabolism of lipoproteins.
Objectives: our aim is to describe the clinical, biochemistry and imagine characteristics of primary hyperlipidemia and to review outcome of management for patients with primary hyperlipidemia.
Subjects and Methods: this is case series study including 59 patients from 51 unrelated families. These cases had longitudinal monitoring from 1/2006 to 8/2017.
Results: Among 59 cases, 18 patients (30.5%) from 15 unrelated families had hypercholesterolemia, 1 case had homozygous familial hypercholesterolemia; 34 patients (57.6%) from 31 unrelated families had hypertriglyceridemia; 7 patients from 7 unrelated families (11.9%) had with mixed hyperlipidemia. Only patients with hypercholesterolemia and hypertriglyceridemia had xanthoma. Hepatomegaly and splenomegaly were recognized only in patients with hypertriglyceridemia and mixed hyperlipidemia patients. Early cardiovascular complications are only seen in patients with hypercholesterolemia, acute pancreatitis were seen in both hypertriglyceridemic and mixed hyperlipidemic patients. The serum total cholesterol level was 12.68 ± 4.9 mmol/l and LDL- cholesterol level was 10.98 ± 4.22 in hypercholesterolemia group. The serum triglyceride level was 41.9 ± 63.79 mmol/l and total cholesterol level was 7.37 ± 8.2 mmol/l in hypertriglyceridemia group. The serum total cholesterol level was 6.28 ± 1.11 mmol/l and triglyceride level was 15.6 ±5.16 mmol/l in mixed hyperlipidemia group. Best outcome of therapeutic goal was seen in patients with mixed hyperlipidemias, followed by patients with hypertriglyceridemia, and patients with hypercholesterolemia.
Conclusions: clinical manifestations in patients with primary hyperlipidemia are likely to be missed diagnosis. Screening for hyperlipidemia in high-risk infants should be developed to help preventing cardiovascular disease complications, as well as acute pancreatitis.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology