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Test 1 of 0

Rare Lipid disorder Course Lisbon Pre-test

Peter Sjöö November 3, 2021

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Question 1 of 7
1. Question
Diagnostic tools for rare diseases in lipoprotein metabolism #1
Rare lipid disorders are:
- All autosomal recessive
- All autosomal dominant
- Some are dominant but the majority are autosomal recessive
- Some are recessive but the majority are autosomal dominant
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Question 2 of 7
2. Question
Diagnostic tools for rare diseases in lipoprotein metabolism #2
Next Generation Sequencing (NGS) has improved the diagnosis of rare lipid disorders
- True
- False
- Not for all cases
- Just for the recessive cases
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Question 3 of 7
3. Question
What can we learn from rare diseases? Clinic and Lab crosstalks in lipidology #1
Abetalipoproteinemia is usually related to low LDL levels and…
- myalgia
- diabetes
- anemia
- pancreatitis
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Question 4 of 7
4. Question
What can we learn from rare diseases? Clinic and Lab crosstalks in lipidology #1
Heterozygous Familial hypobetalipoproteinemia is characterized by low levels of LDL and…
- fatty liver
- lower risk of cardiovascular disease
- low level of triglycerides
- all the above
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Question 5 of 7
5. Question
Lipodistrophies with dyslipidemia #1
Tick the true answer concerning lipodystrophies
- Serum complement levels and autoantibodies may support diagnosis of acquired lipodystrophy syndromes.
- Firm diagnostic criteria for lipodystrophies is very well established
- Patients with genetic generalized lipodystrophy have generalized loss of subcutaneous fat and often have associated autoimmune diseases.
- Patients with genetic partial lipodystrophy (APL) have cranio-caudal fat loss affecting the face, neck, shoulders, arms, and upper trunk and most patients have low serum complement 3 levels
- In more than 90% of lipodystrophies the causative gene is known
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Question 6 of 7
6. Question
Lipodistrophies with dyslipidemia #2
Tick the true answer concerning lipodystrophies
- Metabolic work up for insulin resistance, diabetes, dyslipidemia and fatty liver disease is rarely needed
- There are defined serum Leptin levels that establish or rule out the diagnosis of lipodystrophy.
- A negative genetic test rule out a genetic condition
- In generalized lipodystrophy, metreleptin (recombinant human methionyl leptin) with diet is a first-line treatment for metabolic and endocrine abnormalities but it is not approved in prevention of these comorbidities in children.
- Recombinant human methionyl leptin may be considered for hypoleptinaemic (leptin <4 ng/mL) patients with partial lipodystrophy and severe metabolic derangements (HbA1c >8% and/or triglycerides >500 mg/dL)
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Question 7 of 7
7. Question
Extremely high triglycerides #1
Which of the following sentences are correct?
- A Severe hypertriglyceridaemia (HTG) is a condition where TG are usually over >5 mmol/L 442mg/dL
- Monogenic chylomicronaemia is due to Lipoprotein lipase deficiency (Bi-allelic LPL gene mutations) in 10% of cases
- Apo C-II deficiency , Apo A-V deficiency, Lipase maturation factor 1 deficiency and GPIHBP1 deficiency are extremely rare causes of hypertriglyceridaemias
- Multifactorial or polygenic chylomicronaemia is a condition cause by complex genetic susceptibility and TG levels are more stable than in Lipoprotein lipase deficiency
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