Robbins Chapter 12: Blood Vessels
Robbins Chapter 12: Blood Vessels
| FAMILIAL HYPERCHOLESTEROLEMIA | ||||
|---|---|---|---|---|
| Type/Freq | Name | Defect | Increased | Clinical Features |
| I (<1%) | Lipoprotein Lipase Deficiency | lipoprotein 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 Hypercholesterolemia | AD 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 Hypercholesterolemia | polygenic LDL receptor deficiency or apolipoprotein B gene | Cholesterol LDL Triglycerides VLDL | Coronary disease |
| III (<1%) | Dysbetalipoproteinemia | apolipoprotein E gene | Triglycerides Cholesterol VLDL remnants VLDL:TG<0.3 | Coronary disease, peripheral vascular disease, palmar fatty streaks, obesity, tuboeruptive xanthomas (elbows), hypothyroidism |
| IV -0.45 | Familial Hepertriglyceridemia | AD 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) Arteritis | Granulomatous 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 Arteritis | Granulomatous 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 Disease | Arteritis 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 Granulomatosis | Granulomatous 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 Cryoglobulinemia | Vasculitis with cryoglobulin immune deposits affecting small vessels (i.e. capillaries, venules or arterioles). Cryoglobulins in serum. Typicaly involves skin, glomeruli. |
| Cutaneous Leukocytoclastic Angiitis | Isolated cutaneous leukocytoclastic angiitis without systemic vasculitis or glomerulonephritis. |