Familial hypercholesterolemia

Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH.
LDLR pathway
Schematic representation of the LDL receptor protein.
Cholesterol is synthesized in the HMG-CoA reductase pathway.

Genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease.

- Familial hypercholesterolemia
Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH.

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An example of dyslipidemia in the form of a 4-ml sample of hyperlipidemic blood in a vacutainer with EDTA. Left to settle for four hours without centrifugation, the lipids separated into the top fraction.

Dyslipidemia

Abnormal amount of lipids in the blood.

Abnormal amount of lipids in the blood.

An example of dyslipidemia in the form of a 4-ml sample of hyperlipidemic blood in a vacutainer with EDTA. Left to settle for four hours without centrifugation, the lipids separated into the top fraction.

Some common genetic disorders associated with primary dyslipidemias are homozygous or heterozygous hypercholesterolemia, familial hypertriglyceridemia, combined hyperlipidemia, and HDL-C metabolism disorders.

Lovastatin, a compound isolated from Aspergillus terreus, was the first statin to be marketed.

Statin

Statins, also known as HMG-CoA reductase inhibitors, are a class of lipid-lowering medications that reduce illness and mortality in those who are at high risk of cardiovascular disease.

Statins, also known as HMG-CoA reductase inhibitors, are a class of lipid-lowering medications that reduce illness and mortality in those who are at high risk of cardiovascular disease.

Lovastatin, a compound isolated from Aspergillus terreus, was the first statin to be marketed.
Atorvastatin bound to HMG-CoA reductase: PDB entry
The HMG-CoA reductase pathway, which is blocked by statins via inhibiting the rate limiting enzyme HMG-CoA reductase.
The oyster mushroom, a culinary mushroom, naturally contains lovastatin.

In children statins are effective at reducing cholesterol levels in those with familial hypercholesterolemia.

A color photograph of two bags of thawed fresh frozen plasma: The bag on the left was obtained from a donor with hypercholesterolemia, and contains altered serum lipid levels, while the bag obtained from a normal donor contains regular serum lipid levels.

Hypercholesterolemia

Presence of high levels of cholesterol in the blood.

Presence of high levels of cholesterol in the blood.

A color photograph of two bags of thawed fresh frozen plasma: The bag on the left was obtained from a donor with hypercholesterolemia, and contains altered serum lipid levels, while the bag obtained from a normal donor contains regular serum lipid levels.
Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with familial hypercholesterolemia.
Formula structure of cholesterol

Elevated levels of non-HDL cholesterol and LDL in the blood may be a consequence of diet, obesity, inherited (genetic) diseases (such as LDL receptor mutations in familial hypercholesterolemia), or the presence of other diseases such as type 2 diabetes and an underactive thyroid.

A protein with 3 functional domains

LDL receptor

Mosaic protein of 839 amino acids (after removal of 21-amino acid signal peptide) that mediates the endocytosis of cholesterol-rich LDL.

Mosaic protein of 839 amino acids (after removal of 21-amino acid signal peptide) that mediates the endocytosis of cholesterol-rich LDL.

A protein with 3 functional domains

Michael S. Brown and Joseph L. Goldstein were awarded the 1985 Nobel Prize in Physiology or Medicine for their identification of LDL-R and its relation to cholesterol metabolism and familial hypercholesterolemia.

William Bateson

Genetic counseling

Process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease; this field is considered necessary for the implementation of genomic medicine.

Process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease; this field is considered necessary for the implementation of genomic medicine.

William Bateson

Familial hypercholesterolemia

The Achilles tendon or calcaneal tendon is attached to the gastrocnemius and soleus muscles.

Achilles tendon

Tendon at the back of the lower leg, and is the thickest in the human body.

Tendon at the back of the lower leg, and is the thickest in the human body.

The Achilles tendon or calcaneal tendon is attached to the gastrocnemius and soleus muscles.
The achilles tendon, tendo calcaneus attaches distally to the calcaneual tuberosity, and arises superiorly from the triceps surae complex of the gastrocnemius and soleus muscles.
Achilles tendon at foetus

Tendon xanthomas are cholesterol deposits that commonly develop in the Achilles tendon of people with lipid metabolism disorders such as familial hypercholesterolemia.

A variety of topics involved with pharmacology, including neuropharmacology, renal pharmacology, human metabolism, intracellular metabolism, and intracellular regulation.

Lipid-lowering agent

Lipid-lowering agents, also sometimes referred to as hypolipidemic agents, cholesterol-lowering drugs, or antihyperlipidemic agents are a diverse group of pharmaceuticals that are used to lower the level of lipids and lipoproteins such as cholesterol, in the blood (hyperlipidemia).

Lipid-lowering agents, also sometimes referred to as hypolipidemic agents, cholesterol-lowering drugs, or antihyperlipidemic agents are a diverse group of pharmaceuticals that are used to lower the level of lipids and lipoproteins such as cholesterol, in the blood (hyperlipidemia).

A variety of topics involved with pharmacology, including neuropharmacology, renal pharmacology, human metabolism, intracellular metabolism, and intracellular regulation.

Apoprotein-B inhibitor mipomersen (approved by the FDA in 2013 homozygous familial hypercholesterolemia. ).

A representation of the 3D structure of the protein myoglobin showing turquoise α-helices. This protein was the first to have its structure solved by X-ray crystallography. Toward the right-center among the coils, a prosthetic group called a heme group (shown in gray) with a bound oxygen molecule (red).

Apolipoprotein B

Protein that in humans is encoded by the gene.

Protein that in humans is encoded by the gene.

A representation of the 3D structure of the protein myoglobin showing turquoise α-helices. This protein was the first to have its structure solved by X-ray crystallography. Toward the right-center among the coils, a prosthetic group called a heme group (shown in gray) with a bound oxygen molecule (red).

Mutations in gene APOB100 can also cause familial hypercholesterolemia, a hereditary (autosomal dominant) form of metabolic disorder Hypercholesterolemia.

A patient's knee showing multiple xanthoma tuberosum

Xanthoma

A xanthoma (pl.

A xanthoma (pl.

A patient's knee showing multiple xanthoma tuberosum
Histology picture of xanthoma showing lipid-laden foam cells with large areas of cholesterol clefts, 10 × magnification, eosin and hematoxylin stain

Also associated with familial hypercholesterolemia (FH).

Afrikaner children in Namibia playing tug of war

Afrikaners

Afrikaners are a South African ethnic group descended from predominantly Dutch settlers first arriving at the Cape of Good Hope in the 17th and 18th centuries.

Afrikaners are a South African ethnic group descended from predominantly Dutch settlers first arriving at the Cape of Good Hope in the 17th and 18th centuries.

Afrikaner children in Namibia playing tug of war
Painting of the arrival of Jan van Riebeeck
Trekboers making camp, an 1804 painting by Samuel Daniell.
Weenen massacre: Zulus killed hundreds of Boer colonists (1838)
Boer guerrillas during the Second Boer War
Lizzie van Zyl, visited by Emily Hobhouse in a British concentration camp
Boer women and children in British concentration camps
Boer children, c. 1901
Admixture analysis of 77 Afrikaners.
de Klerk and Mandela shake hands in January 1992
Afrikaner farmer in Georgia, Caucasus region, 2011

As in other cases where large population groups have been propagated by a relatively small pool of progenitors, Afrikaners have also experienced an increase in the frequency of some otherwise rare deleterious ailments, including variegate porphyria and familial hypercholesterolaemia.