Professional Documents
Culture Documents
Group 4
Objectives
Discuss the different types, composition and
synthesis of lipoproteins
Discuss the significance of apolipoproteins
Review the transport of lipids in the blood
Define “abetalipoproteinemia” and its
underlying genetic defect
Explain why intestinal and hepatic cells
accumulating fats in this disorder
Discuss the manifestations and possible
complications of this disorder
Explain why patients with this disorder do not
develop vitamin D deficiency
Discuss other disorders that may arise from
derangements of lipoprotein function, their
etiology and clinical manifestations
Lipoproteins
Combination of lipid and protein serve
as the means of transporting lipids in
the blood
Types and Composition of Lipoprotein
Apolipoproteins
Proteins that bind to fats
transport cholesterol and triglycerides in the
blood
one or more apolipoproteins are present in
each lipoprotein.
Apo E
Present in 3 isoforms: E2, E3, E4
found in Chylomicrons and IDL that binds to
a specific receptor on liver cell
essential for the normal catabolism of
triglyceride-rich lipoprotien constituent
E2 binds poorly to receptors homozygous
poor clearance of chylomicron remnants and
IDL
E4 associated with increased susceptibility
to late onset of Alzheimer’s disease
Apo A1
Major protein component of HDL in plasma
It promotes cholesterol efflux from tissue to
the liver for excretion
It is a co-factor for LCAT (Lecithin
cholesterolacyltransferase)
Apo B
primary apolipoprotiens of LDL “bad
cholesterol,” which is responsible for
carrying cholesterol in the tissue
acts as a ligand for LDL receptors in various
cells throughout the body
High Apo B can lead to plaques that cause
vascular disease leading to heart disease
Different types of apolipoproteins found
on different types of cholesterol
Lipoprotein Apolipoprotein
LDL apoB100
they can form the part of structure of
Lipoproteins
They are cofactor enzymes
act as Ligands for interaction with Lipoprotein
receptors in tissues
Functions
exogenous pathway
endogenous pathway
pathway of reverse cholesterol transport
Abetalipoproteinemia
Cada, Kristian C.
Signs and Symptoms
• In infancy:
• Failure to thrive, or an infant who does not gain
weight and grow as expected. This can include:
• Diarrhea
• Fatty, foul-smelling stools (steatorrhea)
• Vomiting
• Distention or swelling of the abdomen
• Acanthocytes seen in a blood sample. These are
red blood cells that have a speculated or “star-like”
appearance. In addition to being abnormal, there
can be fewer red blood cells in circulation
(anemia). Some of the symptoms of anemia
include being tired, decreased appetite, weakness,
and pale skin.
• Later in life:
• Symptoms
• Feet numbness
• Occational disability in maintaining
balance
Past History
• Malabsorption
• Started during childhood
• Mistaken for celiac disease
• Alleviated by less fatty food
• Night vision difficulty
• Gradually deteriorated since age 16
Physical examination
• Decreased deep tendon reflex
• Decreased propioceptive and vibration
senses
• Bilateral pigmented retinopathy
• Gait ataxia
• Positive Rhomberg sign
Additional Laboratory Results
• Increased Prothrombin time
• Decreased Hematocit
• Numerous acanthocytes
• Increased reticulocyte count
• Decreased sedimentation rate
• Small intestines biopsy
• Normal villi with intracellular droplets
positive for fat
Reason for misdiagnosis and late
detection of disease
• Rarity of disease
• Seemingly unrelated symptoms
• Abnormal laboratory results
Underlying causes
• Absence of apoB lipoprotein
• Malabsorption
• Impaired chylomicron production
• Vit. A deficiency
• Eye problem
• Vit. K deficiency
• Prolonged PT;
• Vit. E deficiency
• Demyelination of long axons