Learn / FMK
Every FMK condition
299 diseases, deficiencies, toxicities and drug mechanisms harvested from every FMK deck — the ones sprinkled through a single bullet as much as the ones with their own slide. Pick what you're given and what you have to name, or let it cycle; distractors come from the same category so you have to discriminate (hypoketotic vs. ketotic hypoglycemia, which GSD, which urea-cycle enzyme…). Every answer shows the whole card with the lecture and slide.
Lipid · FMK 01.2
Familial hypercholesterolemia (FH) Autosomal dominant
Defect / target: LDL receptor (LDLR gene, 19p13.2), >2,000 mutations; Class I null, II transport defect (most common), III binding defect (ApoB cannot bind), IV internalization defect, V recycling defect
Mechanism: Defective LDL receptors cannot clear LDL from plasma, so LDL-C rises markedly and cholesterol deposits in vessel walls (foam cells -> fatty streaks -> fibrous plaques) and tendons.
↑ Accumulates: Plasma LDL cholesterol; cholesterol in vessel walls, tendons, periorbital skin· ↓ Deficient: Functional LDL receptors
Presentation: Premature atherosclerosis and coronary disease, tendon xanthomas, xanthelasma; 1:250 heterozygous (most common single-gene disorder)
Labs: Markedly elevated LDL-C
Treatment: Statins (block HMG-CoA reductase), PCSK9 inhibitors
Five LDLR mutation classes: null, transport, binding, internalization, recycling
Learn the mechanism: Cholesterol synthesis →
FMK 01.2 Proteins, Carbohydrates, Lipids; FMK 05.1 Cholesterol & Steroid Synthesis · slide 01.2: 12, 14; 05.1: 12, 23; FMK 04.4 slide 29