Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study

Feoli-Fonseca, Juan Carlos; Lévy, Émile; Godard, Muriel; Lambert, Marie

doi:10.1016/s0022-3476(98)70280-x

Cited by 78 publications

(65 citation statements)

References 20 publications

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“…In India, several cases have been reported in very young children aged between 20 and 60 days. Some presented with features of sepsis with systemic complications and acute renal failure with complete recovery [2]. The diagnosis was clinical and genetic testing was not available.…”

Section: Discussionmentioning

confidence: 99%

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An Infant with Milky Blood : An Unusual but Treatable Case of Familial Hyperlipidemia

2012

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Hyperlipidemia is increasing prevalent risk factor in children, concomitant with worldwide epidemic of obesity. Lipid disorder can occur either as primary event or secondary to an underlying disease. The primary dyslipidemia are associated with overproductions/or impaired removal of lipoprotein. The latter defect can be induced by an abnormality in either the lipoprotein itself or in the lipoprotein receptor. A 2 month old male baby was found to have highly viscous and milky serum. S. Cholesterol was 2,200 mg/dl and triglycerides 13,292 mg%. There was no dysmorphic feature. Child was anemic and had hepatosplenomegaly and xanthomas. There was positive history of hyperlipidemia in first maternal cousin. Parents of index case had normal lipid profile. The child was put on lipid lowering agents, Iron drops, medium chain fatty acid.Keywords Hypertriglyceridemia Á Xanthoma Á Milky serum Case ReportA 2 month old male baby was admitted in emergency with excessive cry and abdominal distention. The baby was younger of two siblings, born at term by normal vaginal delivery with birth weight of 3 kg with uneventful antenatal natal and postnatal periods. The child was on exclusively breast feeding since birth.During sampling, his blood was found to be highly viscous and milky (Fig. 1). The child was active and had hepatosplenomegaly and xanthomas (Fig. 2) without dysmorphic features. The child has normal Liver and kidney function test with sterile urine and blood cultures. Ultrasonography showed hepatosplenomegaly with normal liver texture. Electrocardiography and echocardiography results were within normal limits. Ophthalmological examination revealed lipemia retinalis (Fig. 3).Serum was analyzed by using Becman Coulter USA in which LDL, VLDL, HDL done by electrophoresis, TG and S. Cholesterol by Spectrophotometry and Apo A, Apo B S. lipase by immunoturbidimetric technique. Results are obtained as S. cholesterol 2,200 mg/dl (\170 mg/dl), S. triglycerides 13,292 mg% (\150 mg/dl), HDL 94 mg/dl (40-60 mg/dl), VLDL 426 mg/dl (\30 mg/dl), LDL 463.5 mg/dl (\110 mg/dl). Other investigations are Apo B 163 mg/dl (55-140 mg/dl), Apo A 175 mg/dl (110-225 mg/dl), S. lipase 163 mg/dl (0-8 mg/dl), S. amylase 13 U/l, T3 10.8 ng/ml, T4 10.4 lg/dl, TSH 2.4 lIU/ml, S. ca 9.8 mg/dl, S. Phosphorus 3.50 mg/dl, S. Uric acid 5.0 mg/dl, ALP 743 U/l. Routine blood counts revealed Hb \ 8 g/dl.Other sibling and both parents of index case had normal lipid profiles. No history of convulsion, jaundice, bleeding manifestation, skin rash, any premature sudden death or any known case of hyperlipidemia in family members. Developmental milestones were achieved at appropriate age.The child was put on lipid lowering agents, medium chain fatty acid formula, intravenous fluid and blood transfusion given. Lipid profile was repeated after 15 days which showed blood red in color (Fig. 4) with lowering lipid contents as S. cholesterol 984 mg% (normal \ 170 mg%), S. triglycerides 7,828 mg% (normal \ 150 mg%), HDL 94 mg% (normal range 40-60 mg%), VLDL 126 mg% ...

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Section: Discussionmentioning

confidence: 99%

“…It is a rare disorder in childhood. According to the National Cholesterol Education Program (NCEP), normal triglyceride level is \ 150 mg/dl (\1.7 mmol/l) [2]. Primary hypertriglyceridemia is the result of various genetic defects leading to disordered triglyceride metabolism.…”

Section: Discussionmentioning

confidence: 99%

An Infant with Milky Blood : An Unusual but Treatable Case of Familial Hyperlipidemia

2012

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“…[1][2][3]13 Several clinical observations have suggested that the patients with LPL deficiency suffer severe hypertriglyceridemia. 3,14 The genetic variants of LPL may have a role in determining lipid levels. A study by Jemaa et al 15 in French patients (614 patients with myocardial infarction and 733 controls; Po0.01) indicated that there is an association between LPL rs328 C-G (Ser447Stop) polymorphism and hypertriglyceridemia.…”

Section: Introductionmentioning

confidence: 99%

The common biological basis for common complex diseases: evidence from lipoprotein lipase gene

et al. 2009

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The lipoprotein lipase (LPL) gene encodes a rate-limiting enzyme protein that has a key role in the hydrolysis of triglycerides. Hypertriglyceridemia, one widely prevalent syndrome of LPL deficiency and dysfunction, may be a risk factor in the development of dyslipidemia, type II diabetes (T2D), essential hypertension (EH), coronary heart disease (CHD) and Alzheimer's disease (AD). Findings from earlier studies indicate that LPL may have a role in the pathology of these diseases and therefore is a common or shared biological basis for these common complex diseases. To examine this hypothesis, we reviewed articles on the molecular structure, expression and function of the LPL gene, and its potential role in the etiology of diseases. Evidence from these studies indicate that LPL dysfunction is involved in dyslipidemia, T2D, EH, CHD and AD; and support the hypothesis that there is a common or shared biological basis for these common complex diseases.

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“…The largest cohort of infants with familial chylomicronemia investigating presenting symptoms in these patients was done in Quebec [7]. 7/16 patients presented with irritability, 5 with anemia and/ or splenomegaly, 2 had a rectal bleed and 2 cases were incidentally discovered.…”

Section: Discussionmentioning

confidence: 99%

Compound heterozygous deletions presenting as infantile chylomicronemia

Felsenstein¹,

Dallinga‐Thie²,

Kanumakala³

2015

IJCRI

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International Journal of Case Reports and Images (IJCRI) is an international, peer reviewed, monthly, open access, online journal, publishing high-quality, articles in all areas of basic medical sciences and clinical specialties.Aim of IJCRI is to encourage the publication of new information by providing a platform for reporting of unique, unusual and rare cases which enhance understanding of disease process, its diagnosis, management and clinico-pathologic correlations. IJCRI publishes Review

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Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study

Cited by 78 publications

References 20 publications

An Infant with Milky Blood : An Unusual but Treatable Case of Familial Hyperlipidemia

An Infant with Milky Blood : An Unusual but Treatable Case of Familial Hyperlipidemia

The common biological basis for common complex diseases: evidence from lipoprotein lipase gene

Compound heterozygous deletions presenting as infantile chylomicronemia

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