Mendelian Reverse Cholesterol Transport Study

Inclusion Criteria:

1. Men and women between the ages of 18 and 75

2. Subjects must be:

   1. Carriers of functional mutations of genes encoding proteins affecting HDL metabolism ;
   2. Healthy control subjects with HDL cholesterol levels ≥ 50th percentile for age, gender and race matched for gender, race, age (± 5 years) to the patients.
3. Negative screening pregnancy test if female of child bearing potential (females of child-bearing potential must be following a medically accepted form of contraception)
4. Subjects must be able to comprehend and willing to provide a signed IRB approved Informed Consent Form.
5. Subjects must be willing and able to comply with all study-related procedures.

Exclusion Criteria:

1. Known cardiovascular disease, including coronary disease, cerebrovascular disease, or peripheral vascular disease (control subjects only)
2. History of diabetes mellitus or fasting glucose > 126 mg/dL at the screening visit (control subjects only).
3. History of any other endocrine disease
4. History of a non-skin malignancy within the previous 5 years
5. Anemia; Hemoglobin less than 10 g/dL
6. History of kidney disease or chronic renal insufficiency, as defined as eGFR < 60 ml/min/1.73m2 in control subjects and patients with other disorders of HDL metabolism and eGFR < 30 ml/min/1.73m2 in subjects with LCAT deficiency.
7. Any major active rheumatologic, pulmonary, or dermatologic disease or inflammatory condition
8. Uncontrolled hypertension (Systolic >160 mm Hg and/or Diastolic BP >100 mmHg on two consecutive measurements
9. Use of warfarin, or any known coagulopathy and /or elevated PT/PTT >1.5 x ULN
10. Self-reported history of HIV positive
11. Previous organ transplantation
12. Clinical evidence of liver disease or liver injury as indicated by abnormal liver function tests such as ALT or AST > 1.5x ULN, or self-reported history of positive Hepatitis B or Hepatitis C test result
13. Any major surgical procedure that occurred within the previous 3 months of the screening visit
14. History of drug abuse (< 1 year)
15. Regular abuse of alcoholic beverages (> 2 drinks/day)
16. Body mass index (BMI) > 35 kg/m2 or < 18.5 kg/m2
17. Participation in an investigational drug study within 6 weeks prior to the screening visit
18. Serious or unstable medical or psychological conditions that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study will be excluded.
19. Use of lipid lowering drugs expected to affect RCT (e.g. fibrates) within the 6 weeks prior to dosing or during the study. Use of statins (stable dose for at least 30 days) is permitted.
20. Male subjects who plan to conceive a child within 3 months of the conclusion of the study.
21. Women who are pregnant or lactating or who are planning to become pregnant