Natural History of Uncommon Dyslipidemias, Rare Lipid Disorders and Unusual Atherosclerotic Conditions
Background: The right amount of fats in the blood (cholesterol and triglycerides) are a key part of a healthy organism. Too much or too little of these fats may manifest as diseases (dyslipidemia). There are many causes for these abnormalities, but some are genetically determined and we would like to better understand the progression of these conditions over time.
Objective: This natural history study aims to learn more about dyslipidemias; how they change over time; and how they respond to therapy. We also want to develop new diagnosis methods for these conditions. With the knowledge we will acquire we hope to provide new insights, new approaches and improve the overall health of these patients.
Eligibility: Individuals aged 10 years and older, residing both within and outside the United States, who have or are suspected of having a disorder that causes changes in the levels of fats in their blood (genetic dyslipidemias).
Design: Participants residing within and outside the United States will be screened. Their medical records may be reviewed. They may talk to researchers about their medical history by phone, telehealth, or in person. All study visits are optional. Participants may visit the NIH up to 15 times per year, if needed. Each visit may include a physical exam and blood tests. Participants may also have an electrocardiogram (EKG). The EKG measures the electrical activity when the heart beats. In some cases, participants may remain in the study for up to 20 years.
‣ Affected Participants
⁃ Male and female participants age \>= 10 years.
⁃ Subjects with confirmed or suspected rare disorder that causes lipid/lipoprotein abnormalities (dyslipidemia) or abnormal documented or referred atherosclerosis patterns.
⁃ Only affected individuals (not healthy volunteers and for self-referred subjects independent of lipid and lipoprotein marker values.); subjects with laboratory or clinical presentation that in the opinion of the Principal Investigator, would alter the determination of normal
‣ parameters for assays and screening tools development.
• Ability of the subject or Legally Authorized Representative (LAR) to understand and willingness to sign a written informed consent document.
‣ Healthy Volunteers
⁃ Participants must be healthy, with no known history of lipid disorders or related medical conditions.
⁃ Participants must not be pregnant.