Robbins Chapter 12: Blood Vessels

Robbins Chapter 12: Blood Vessels

FAMILIAL HYPERCHOLESTEROLEMIA    
Type/FreqNameDefectIncreasedClinical Features
I
(<1%)
Lipoprotein Lipase Deficiencylipoprotein lipase gene
failure to delipidate cholymicrons
Triglycerides
Chylomicrons
Plasma - thick creamy layer
Child w/recurrent abdominal pain, pancreatitis, eruptive xanthomas, lipemia retinalis, HSM, develop DM
IIa
-0.1
Familial HypercholesterolemiaAD
LDL receptor deficiency or apolipoprotein B gene
Cholesterol
LDL
Ischemic heart disease before 5th decade, tendon xanthomas , xanthelasma, arcus cornea
IIb
-0.4
Familial Combined Hypercholesterolemiapolygenic
LDL receptor deficiency or apolipoprotein B gene
Cholesterol
LDL
Triglycerides
VLDL
Coronary disease
III
(<1%)
Dysbetalipoproteinemiaapolipoprotein E geneTriglycerides
Cholesterol
VLDL remnants
VLDL:TG<0.3
Coronary disease, peripheral vascular disease, palmar fatty streaks, obesity, tuboeruptive xanthomas (elbows), hypothyroidism
IV
-0.45
Familial HepertriglyceridemiaAD
mutation in lipoprotein lipase gene
Triglycerides
VLDL
Decreased HDL
Eruptive xanthomas, pancreatitis, lipemia retinalis, diabetes, +/- CAD, +/- HSM, gallstones
V
-0.05
apolipoprotien CII gene or lipoprotein lipase gene Triglycerides
VLDL
Chylomicrons
Eruptive xanthomas, pancreatitis, diabetes, +/- CAD

VLDL – triglyceride carrier
LDL – cholesterol carrier

CLASSIFICATION AND CHARACTERISTICS OF VASCULITIS 
Large Vessel Vasculitis (Aorta and its largest branches to the head and neck)
Giant Cell (Temporal) ArteritisGranulomatous arteritis of aorta and its major branches, carotid and temporal artery.
Patients over age 50.
Fever, fatigue, weight loss, ocular symptoms (diplopia, vision loss).
Association with polymyalgia rheumatica.
Takayasu ArteritisGranulomatous arteritis of aorta and its major branches.
Females under age 50.
Upper extremity pulses weakened, ocular disturbances.
Medium Vessel Vasculitis (Main visceral arteries and their branches)
Polyarteritis Nodosa (PAN)Remitting course in young adults .
Necrotizing inflammation of medium-sized or small arteries without glomerulonephritis or vasculitis in arterioles, capillaries and venules. (segmental lesions)
Renal and visceral vessels. Spares lung.
Often produces irregular aneurysmal dilation, vascular obstruction, infarctions.
All stages of activity present in different vessels or even within same vessel.
30% associated with Hepatitis B (Ag +)
Kawasaki DiseaseArteritis involving large, medium-sized and small arteries and associated with mucocutaneous lymph node syndrome. (erythema of oropharynx, palms and soles, skin rash with desquamation)
Usually occurs in children .
Coronaries often involved (thrombosis and aneurysms)
Aorta and veins may be involved.
Fibrinoid necrosis less prominent.
Small Vessel Vasculitis (arterioles, venules, small capillaries)
Wegener GranulomatosisGranulomatous inflammation involving respiratory tract .
Necrotizing vasculitis affecting small to medium - sized vessels .
Necrotizing (often crescentic) glomerulonephritis common.
c ytoplasmic ANCA positive (antiproteinase 3) - 90%
Churg-Strauss syndrome (allergic granulomatosis and angiitis)Eosinophil-rich and granulomatous inflammation involving the respiratory tract
Necrotizing vasculitis affecting small to medium - sized vessels
Asthma , Allergic rhinitis
Peripheral eosinophilia
p erinuclear ANCA positive (antimyeloperoxidase) - 70%
Microscopic Polyangiitis (microscopic polyarteritis, hypersensitivity or leukocytoclastic vasculitis)Necrotizing vasculitis with few or no immune deposits affecting small vessels (i.e. capillaries, venules, or arterioles)Necrotizing arteritis involving small and medium-sized arteries may be present.
Necrotizing glomerulonephritis is common. (90%)
Pulmonary capillaritis also occurs (hemoptysis)
p erinuclear ANCA positive (antimyeloperoxidase) - 80%
Lesions seem to be of same age (in contrast to PAN) and are pauci-immune.
Henoch-Schonlein Purpura (HSP)Vasculitis with IgA -dominant immune deposits affecting small vessels (i.e. capillaries, venules or arterioles).
Typicaly involves skin, gut, glomeruli.
Associated with arthralgias or arthritis .
Essential CryoglobulinemiaVasculitis with cryoglobulin immune deposits affecting small vessels (i.e. capillaries, venules or arterioles).
Cryoglobulins in serum.
Typicaly involves skin, glomeruli.
Cutaneous Leukocytoclastic AngiitisIsolated cutaneous leukocytoclastic angiitis without systemic vasculitis or glomerulonephritis.