natural history of uncommon dyslipidemias, rare lipid disorders and unusual atherosclerotic conditions

Conditions: Dyslipidemia; Atherosclerosis

Summary: 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 will 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. stickers attached to wires will be placed on participants legs, arms, and chest. they will lie still for about 5 minutes. in some cases, participants may remain in the study for up to 20 years.

study description: this clinical research project is designed as a rare primary lipid disorder patient observational study that will utilize conventional and virtual (telehealth) medicine. this study will accept patients from the u.s. and abroad, will utilize current approved regulatory approaches to receive patient data, specimens, and share information with patients or their healthcare providers. objectives: -primary objective: to improve understanding of rare or uncommon or acquired primary lipid disorders, evolution of such conditions, and response to therapies among the participants enrolled onto this study based upon ldl-c and other lipids or lipoproteins over time. -secondary objective: to improve understanding of how hdl-c, triglycerides, other lipid markers of dyslipidemia, and cardiovascular (cv) risk impact rare or uncommon or acquired primary lipid disorders, and response to therapies over time. -tertiary/exploratory objectives: changes in nuclear magnetic resonance spectroscopy lipoprotein fractioning parameters, genetic markers, efflux rate, and other parameters related with cv risk. * to study lipid and cardiovascular risk markers throughout pregnancy * to develop new assays and screening tools for these rare, unusual and uncommon conditions. endpoints: * primary endpoints: observe the changes in ldl-c overtime * secondary endpoints: observe the changes in hdl-c, triglycerides, and other lipid markers of dyslipidemia and cv risk. * tertiary/exploratory endpoints: observe changes in ldl-p, ldl-z, hdl-p, hdl-z, apoa-i levels, apob levels, efflux rate. observe known genetic markers associated with rare lipid disorders. develop new assays or screening tools. observe changes in ldl-p, ldl-z, hdl-p, hdl-z, apoa-i levels, apob levels, efflux rate, hs-crp during pregnancy

Eligibility criteria:
* inclusion criteria: 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. exclusion criteria: * patients with disorders that cause common secondary/lipoprotein alterations. * patients with any other findings that, in the opinion of the principal investigator, would preclude them from participating in the study.

Keywords: uncommon dyslipidemias rare lipid disorders unusual atherosclerotic conditions lipoproteins atherosclerosis triglycerides