Gen Derm Flashcards
What two types of amyloidosis are AL (light chain typically gamma) derived?
Nodular amyloidosis
Primary systemic amyloidosis
What protein derivation is secondary systemic amyloidosis?
AA (non-immunoglobulin protein; amyloid associated)
What protein is hemodialysis associated amyloidosis derived?
Beta 2 micro globulin
What two types of systemic amyloidosis are derived from protein TTR (transthyretin)?
Senile systemic amyloidosis
Familial amyloidosis
What 3 periodic fever syndromes contribute or can cause secondary systemic amyloidosis?
Muckle wells
Familial Mediterranean fever
TRAPS (TNF receptor associated periodic syndrome)
What 3 cutaneous amyloidosis are keratinocyte derived?
Macular amyloidosis
Lichen amyloidosis
Secondary cutaneous amyloidosis
Porphyrins light at what wavelength?
400-410nm
Enzyme deficiency in congenital erythropoietic porphyria
UPS : uroporphyrinogen III co synthase
Erythropoietic proto porphyria (EPP) enzyme deficiency?
Ferrochelatase
Porphyria cutanea tarda (PCT) deficiency enzyme?
Uroporphyrinogen decarboxylase (UD)
Enzyme deficiency Acute intermittent porphyria?
Porphobilinogen deaminase
Enzyme deficiency Variegate porphyria?
Protoporphyrinogen oxidase (PPO)
Enzyme deficiency of hereditary coproporphyria?
Coproporphyrinogen oxidase (CPO)
Enzyme deficiency in Hepatoerythropoietic porphyria?
Uroporphyrinogen decarboxylase (UD)
Two names for Type 1 familial hyperlipidemia
Familial LPL deficiency
Familial hyperchylimicronemia
Defect in type 1 hyperlipidemia
Decrease lipoprotein lipase or apoprotein CII defect
What labs are increased in type 1 hyperlipidemia
Increase TG (chylomicrons)