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SIDEROBLASTIC ANEMIA
-pathophysiology
-types
-clinical findings
- PATHOPHYSIOLOGY:
- -defect in heme synthesis (protoporphyrin: precusor to heme)
- -SCoA → ALA (via ALAS: B6 dependent)
- -Iron able to enter mitochondria but not able to make protoporphyrin (ringed sideroblasts)
- TYPES:
- 1. Acquired: alcoholism, lead poisoning, B6 deficiency (INH tx)
- 2. Congenital: X-linked ALAS defect
- CLINICAL FINDINGS:
- -dimorphic RBC population (one group of normochromic, one group of hypochromic)
- - serum iron ↑
- - ferritin ↑
- - TIBC ↓ (vs. Iron deficiency)
- - % Sat ↑
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WHIPPLE DISEASE
-Pathophysiology
-Clinical Presentation
-Diagnosis
- PATHOPHYSIOLOGY:
- -infection with GP bacillus Tropheryma Whippelii
- -unknown mechanism of transfer
- CLINICAL PRESENTATION:
- -chronic malabsorptive diarrhea
- -steatorhea, flatulance, abdominal distention
- -weight loss
- -migratory arthritis
- -LAD
- -low grade fever
- -cardiac sx
- -CNS sx
- DIAGNOSIS:
- -small intestinal biopsy with PAS+ foamy macrophages in lamina propria
- -(bacilli are NOT acid fast+ vs MAC in HIV+ patients)
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CHRONIC VENOUS INSUFFICIENCY
-pathophysiology
-clinical presentation
-treatment
- PATHOPHYSIOLOGY:
- -three venous systems of lower extremities: deep, superficial and perforating
- -perforating veins (connect superficial to deep with valves to prevent flow from deep to superficial)
- -main risk factor = h/o DVTs (destroys valves in deep and perforating systems)
- -ambulatory venous HTN: edema, extravasation of RBCs/prots (dark pigment)
- CLINICAL PRESENTATION:
- -edema
- -leg elevation relieves sxs
- -thin/atrophic/shiny skin
- -brawny induration (hemosiderin deposit from extravasated RBCs/prots)
- -venous ulcers (medial malleolus)
- TREATMENT:
- -leg elevation
- -avoid long periods of sitting or standing
- -compression stockings
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WALDENSTROM'S MACROGLOBULINEMIA
-Pathophysiology
-Clinical Presentation
-Diagnosis
-Treatment
- PATHOPHYSIOLOGY:
- -malignant proliferation of plasma cells with excessive IgM production
- -hyperviscosity
- CLINICAL PRESENTATION:
- -HSM, LAD
- -Fatigue (2/2 anemia)
- -easy bleeding/bruising (viscosity)
- -night sweats
- -HA/dizziness
- -visual problems
- -demyelinating sensorimotor neuropathy (pain/numbness)
- -NO lytic lesions
- DIAGNOSIS:
- -M spike (IgM vs MM → IgG)
- -BJ proteinuria in 10%
- -hyperviscosity
- TREATMENT:
- -no definitive cure
- -chemo
- -plasmapheresis for hyperviscosity
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SMALL BOWEL OBSTRUCTION
-Pathophysiology
-Clinical Presentation
-Treatment
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