وهذه الاجابه النموذجية والتفسيرات Case study : A 18-year-old | Biochemistry

وهذه الاجابه النموذجية والتفسيرات
Case study :
A 18-year-old man presented to the surgical unit with acute pancreatitis On examination, he had eruptive xanthomata on arms and thighs . .

Plasma fasting lipids as the follows:

Sample grossly lipaemic.

Cholesterol 35 mmol/L (3.5–5.0)
Triglyceride 71 mmol/L (0.3–1.5)
HDL cholesterol 0.8 mmol/L (1.0–1.8)
Amylase 18 U/L (<200) .

1. Given the symptoms and the family history, What is the diagnosis?

●The sever fasting hypertriglyceridaemia ( 71 mmol/L) with gross lipaemia suggests a genetic hyperlipidaemia.

●The presence of eruptive xanthoma supports the
diagnosis of chylomicron syndrome.

2. What is the cause of her lipaemic?

A genetic disorder( chylomicron syndrome) usually a defect of the lipoprotein lipase deficiency or apolipoprotein C2 leading to very high chylomicron production → grossly lipaemic.

3. Assuming this patient has chylomicron syndrome,which type lipoproteins would be increased ?.

Chylomicron and VLDL.

4. What are the risks of high TG at this level?
Acute pancreatitis.
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