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What is Hyperlipoproteinemia?

Hyperlipoproteinemia is the raised presence lipids in the blood.


Hyperlipoproteinemia is the raised presence lipids in the blood.
Acknowledgement of Hyperlipoproteinemia has not been added yet.
Synonyms for Hyperlipoproteinemia has not been added yet.
Homozygous Familial Hypercholesterolemia typically results from a combination of genetic and environmental risk factors. In this disease, the LDLR gene, provides instructions for making a protein called a low-density lipoprotein receptor, undergoes a mutation ( This receptor plays a critical role in regulating cholesterol levels by binding to lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood ( Some mutations of the LDLR gene will decrease the number of essential proteins in the blood, while others simply hinder their ability to bind to lipoproteins ( In the more common case of Heterozygous Familial Hypercholesterolemia, the disease is usually inherited in an autosomal dominant manner Individuals inherit two copies of each gene (one from each parent). With Homozygous Familial Hypercholesterolemia, the disease can be inherited in an autosomal recessive manner. This occurs when an individual inherits a mutated copy of the gene from both parents. As a result, this is a much more severe form of FH (
Patients suffering from Homozygous Familial Hypercholesterolemia typically have very high blood cholesterol levels (usually above 400 mg/dL) ( One characteristic symptom of the disease is the appearance of xanthomas beneath the skin, which is the build up of fats under the surface of the skin ( Especially among children, this skin condition can occur on the hands, elbows, buttocks and knees. Many young HoFH patients will experience severe coronary heart disease before their 20’s, so aggressive treatment is required to reduce the risk of these life-threatening symptoms. Cases of death have been recorded among children who suffer from the disease, due to a narrowing of the body’s main artery (
The diagnosis of Homozygous Familial Hypercholesterolemia is mainly conducted by finding severe low-density lipoprotein cholesterol elevations ( For people suffering from this disease, cholesterol levels may exceed 600 mg/dL ( The disease can also be diagnosed through the presence of xanthomas (fat build-up) beneath the skin in areas such as tendons and fingers. However, a gene or receptor analysis is required to confirm the presence of HoFH ( Once a patient has been diagnosed with the disease, a method of “cascade screening” is recommended to identify any affected family members as well even before symptoms occur. In this process, the patient’s first relatives (parents, siblings, children) are scanned for the mutated gene, followed by more distant relatives as well. This “cascade screening” can be done with the help of a genetic counselor (
Diagnostic tests of Hyperlipoproteinemia has not been added yet
The treatment of Homozygous Familial Hypercholesterolemia is a combination of lifestyle changes, drug treatments and periodic medical attention. First of all, all diagnosed patients should make dietary changes to restrict saturated fat and trans-fats intake, which will have a significant cholesterol-lowering impact ( Drug treatment in the form of cholesterol-lowering drugs is required for most patients immediately following diagnosis. Drugs should be statin based in initial stages, but more powerful drugs should be used if the target low-density lipoprotein cholesterol levels cannot be attained (usually reduce LDL-C by at least 50%) ( Individuals with the more severe, homozygous form of FH may need more aggressive therapies to treat their significantly elevated levels of cholesterol, as drug therapy simply is not effective enough. A procedure called LDL apheresis can be performed periodically for HoFH patients, which will remove LDL cholesterol from the blood artificially ( Although extremely rare, some patients may need to undergo a liver transplant. Since the donor liver will have normal LDL receptors, the blood cholesterol level should be reduced drastically after the procedure (
Since Homozygous Familial Hypercholesterolemia is the more severe form of the disease, the prognosis for patients will not be as good compared to people suffering from other forms familial hypercholesterolemia ( However, the outlook of each patient depends on how well he/she can follow through with treatment advice and lifestyle changes.
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

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