Familial Chylomicronaemia: A Neonate with Milky White Blood

Krishan Prasad Paudel,Nanda Kishwor Chaudhary,Ram Hari Chapagain,Sani Sipai,Suryakant Chaudhary

doi:10.3126/jnps.v38i2.20473

Krishan Prasad Paudel, Nanda Kishwor Chaudhary + Show 3 more

Open Access

https://doi.org/10.3126/jnps.v38i2.20473

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Abstract

Familial Chylomicronaemia is a rare autosomal recessive disease of lipoprotein metabolism characterized by deficiency or absence of lipoprotein lipase (LPL) or its co-factor apoC-II which causes severe elevation of triglyceride and chylomicron resulting in lipaemic plasma, recurrent attacks of acute pancreatitis, eruptive xanthomas, hepato-splenomegaly and lipaemiaretinalis. We report a case of term female neonate with lipaemic plasma, lipemia retinalis, markedly elevated triglyceride level which is consistent with diagnosis of Familial Chylomicronaemia. Keywords: Familial Chylomicronemia, lipemic plasma, triglyceride level, Lipemia retinalis

Highlights

Familial Chylomicronaemia or previously called Type 1 Hyperlipidemia is a rare disease of lipoprotein metabolism with incidence of approximately 1:1000000 population[1]
This condition is characterized by deficiency or absence of lipoprotein lipase (LPL), or its co-factor apoC-II, which causes severe elevation of triglyceride rich plasma chylomicrons and is associated with decrease in HDL cholesterol[2]
Almost all patients have serum triglyceride level in excess of 1000 mg/dl (11.36 mmoL/L), upto 10,000 mg/dl. These patients usually have lipaemic plasma due to high level of triglyceride and circulating chylomicrons. It manifests as eruptive xanthoma, acute pancreatitis, hepatosplenomegaly, foam cell infiltration of bone marrow and lipaemiaretinalis

Summary

Introduction

Familial Chylomicronaemia or previously called Type 1 Hyperlipidemia is a rare disease of lipoprotein metabolism with incidence of approximately 1:1000000 population[1]. This condition is characterized by deficiency or absence of lipoprotein lipase (LPL), or its co-factor apoC-II, which causes severe elevation of triglyceride rich plasma chylomicrons and is associated with decrease in HDL cholesterol[2]. These patients usually have lipaemic plasma due to high level of triglyceride and circulating chylomicrons.

Results

Conclusion