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Description

Autosomal dominant hypercholesterolemia (ADH) is an inherited disorder that causes high levels of cholesterol in the blood. It is caused by a mutation in the gene that codes for the LDL receptor, which is responsible for removing cholesterol from the blood. People with ADH have a defective LDL receptor, which means that cholesterol is not removed from the blood as efficiently as it should be. This leads to high levels of cholesterol in the blood, which can increase the risk of heart disease and stroke. Treatment for ADH typically involves lifestyle changes, such as eating a healthy diet and exercising regularly, as well as medications to lower cholesterol levels.

Synonyms

• familial hypercholesterolemia
• FH
• FHC
• Group A hyperlipidemia
• hyperbetalipoproteinemia
• LDL hyperlipoproteinemia
• LDL receptor disorder
• low-density-lipoid-type hyperlipoproteinemia
• Type IIa hyperlipoproteinemia

Basic Lab Tests (measurements)

• serum
  •      low-density lipoprotein
  •      HDL-cholesterol
  •      apolipoprotein B-100
  •      LDL-cholesterol
  •      cholesterol
• whole blood
  •      echinocytes
  •      acanthocytes

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: