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Familial Hypercholesterolemia, also called Type 2 Dyslipidemia, is a lipid disorder caused by an autosomal dominant defect in the LDL receptor or Apolipoprotein B-100 (Apo B-100).
These defects prevent the binding and removal of low-density lipoprotein cholesterol (LDL) from the bloodstream.
LDL cholesterol (colloquially, "bad cholesterol") is elevated on labs and may deposit in various tissues. Cutaneous deposition is seen as Achilles tendon xanthomas. Other relevant findings include corneal arcus (white ring in cornea). Vessel deposition can lead to accelerated atherosclerosis, and patients may experience myocardial infarction ("heart attacks") as early as the second decade of life.
Find Familial Hypercholesterolemia and more Dyslipidemias among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.