|
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
(10%) |
Familial Hypercholesterolemia |
AD
LDL receptor deficiency or apolipoprotein B gene |
Cholesterol
LDL |
Ischemic heart disease before 5th decade, tendon
xanthomas, xanthelasma, arcus cornea |
IIb
(40%) |
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
(45%) |
Familial Hepertriglyceridemia |
AD
mutation in lipoprotein lipase gene |
Triglycerides
VLDL
Decreased HDL |
Eruptive xanthomas, pancreatitis, lipemia retinalis,
diabetes,
+/- CAD, +/- HSM, gallstones |
V
(5%) |
|
apolipoprotien CII gene or lipoprotein lipase
gene |
Triglycerides
VLDL
Chylomicrons |
Eruptive xanthomas, pancreatitis, diabetes,
+/- CAD |
|
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.
cytoplasmic 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
perinuclear 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)
perinuclear 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. |