Biochem33 Flashcards
Familial dyslipidemias Abetalipoproteinemia
What are the types of familial dyslipidemias?
I-hyper-chylomicronemia (AR)
IIa-familial hypercholesterolemia (AD)
IV-hypertriglyceridemia (AD)
What are the increased blood levels in I-hyper-chylomicronemia?
Chylomicrons
TG
Cholesterol
What are the increased blood levels in IIa-familial hypercholesterolemia?
LDL
Cholesterol
What are the increased blood levels in IV-hypertriglyceridemia?
VLDL
Triglycerides
What is the pathophysiology of IV-hypertriglyceridemia?
Hepatic overproduction of VLDL
PANCREATITIS
What is the pathophysiology of IIa-familial hypercholesterolemia?
Abesent of DEcreased LDL receptors
What is the pathophysiology of I-hyper-chylomicronemia?
Lipoprotein lipase deficiency or
altered Apolipoprotein C-II
What are the clinical findings for I-hyper-chylomicronemia?
Pancreatitis
Hepatosplenomegaly
Eruptive/pruritic xanthomas
*NO INcreased risk of atherosclerosis
What are the clinical findings for IIa-familial hypercholesterolemia?
Accelerated atherosclerosis
Tendon (Achilles) Xanthomas
Corneal Arcus
What are the clinical findings for IV-hypertriglyceridemia?
causes Pancreatitis
What is the mutation in Abetalipoproteinemia?
Microsomal Triglyceride Transfer Protein (MTP) gene
*Autosomal Recessive
What is the result of Abetalipoproteinemia?
Decreased B-48 & B-100
Decreased chylomicron & VLDL synthesis
What does an intestinal biopsy show in a patient with Abetalipoproteinemia?
Lipid accumulation within enterocytes d/t inability to export absorbed lipid as chylomicrons
What are the clinical findings of Abetalipoproteinemia? (5)
Failure to thrive Steatorrhea Acanthocytosis Ataxia Night blindness
