Selected Issues in Nonneoplastic. Orthopaedic Pathology. Diseases of Diarthrodial Joints and their Complications
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4 Selected Issues in Nonneoplastic Orthopaedic Pathology Diseases of Diarthrodial Joints and their Complications Biology of articular hyaline cartilage Arthritis Osteonecrosis Prosthetic Joints Metabolic disorder 4
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6 Arthritis in the United States JRA 71,000 SLE 131,000 Psoriatic 160,00 Ankylosing Spondylitis 318,00 Gout 1,000,000 Rheumatoid Arthritis 2,100,000 Osteoarthritis 17,000,000 6
7 Processing Bone Specimens Frozen sections Tissue processing Artifacts Orthopaedic Specimens Orthopaedic Specimens Sampling a Large Joint Sample are of most severe articular change Sample synovial attachment site Sample normal trabecular bone Sampling an Arthroscopy Specimen Sample all representative tissues in 1 or 2 casettes 7
8 Case History A sixty year old male presented complaining of 5 years of progressively worsening knee pain. Laboratory studies were unremarkable. Diagnosis Osteoarthritis 8
9 Osteoartritis Biochemical Biomechanical Breakdown of Matrix Destruction of Articular Surface 9
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12 History A 70 year old woman has a history of severe joint pain involving her knees, elbows, and fingers. Firm tender nodular masses cm. have been present over her elbows for several years. 12
13 Diagnosis Rheumatoid Arthritis Rheumatoid Arthritis Chronic multisystem disease Genetic predisposition 1% of population affected (M:F 1:3) Onset 4 th -5 th decade (80% develop systems between ages of years) 13
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15 History A 35 year old woman with a history of Crohn s disease who had received steroids as a part of therapy developed bilateral worsening hip pain of 1 year duration. 15
16 Diagnosis Osteonecrosis Osteonecrosis Idiopathic Trauma Infection Dysbarism Gaucher s disease Radiation Corticosteroids Alcoholism Pregnancy Hemoglobinopathy Vasculitis 16
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18 History A sixty-five year old man who had a hip replacement 3years previously now has developed progressively worsening hip pain. 18
19 Diagnosis Prosthetic Wear Debris Reaction Orthopaedic Prosthetic Implants ,000 total hip arthroplasties 110,000 revisions 30,000 partial hip replacements fracture fixation etc. Implant Related Complications Prosthetic Wear Debris Reaction Detritic Synovitis 19
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21 METALLOSIS Tumoral Detritic Synovitis Complications of Orthopaedic Prostheses Implant Loosening Associated With Wear Debris Reaction and Infection Loosening - wear debris reaction Infection incidence 1%-2%, 60-70% caused by staph epi and aureus, 10% strep/ enterococci, gram negatives Instability dislocation, malalignment Thromboembolism Heterotopic ossification 21
22 Loosening of Prosthesis Aseptic vs. Septic How many? Loosening of Prosthesis Active infection > five neutrophils per high-power field in at least five distinct microscopic fields sensitivity 100%, specificity 96% (Neutrophils in fibrin and necrotic tissue) 22
23 Antibiotic Spacers Silicon (Silastin) Prosthesis Silicon (Silastin) Prosthesis 1974 Osteonecrosis Silicone Prosthesis 23
24 Implant Related Sarcoma Implant Related Sarcoma 9 males - 3 females Age (mean 55) 5 hip arthroplasty 4 intramedullary nail for fracture 2 staples placed for fixation of osteotomy 1 fracture fixation and arthroplasty Keel et al. Mod Pathol 2001;14: History A 22 year old man with ankle pain for 3 months. Mild swelling is present. 24
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32 History A 22 year old man with knee pain for 3 months. Mild swelling is present. A bloody effusion was seen at arthroscopy. 32
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40 History A 68 year old man with exquisite toe pain. The toe is swollen and red. 40
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45 History A 55 year old woman with knee pain over several months. The patient also has type II diabetes. 45
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48 History A 45 year old woman has worsening hip pain and on physical exam has hepatosplenomegaly. 48
49 Diagnosis Gaucher Disease Gaucher Disease Definition: Sphingolipid lysosomal storage disease that is inherited in an autosomal recessive fashion or as a spontaneous mutation. Glucosylceramide Gaucher Disease Phillipe C. E. Gaucher History Phillipe Gaucher described 1st case Brady discovers pts glucocerebrosidase deficient gene for enzyme localized to chromosome Barranger treats pts with macrophage targeted enzyme Gaucher Disease Clinical Type1 Type 2 Type 3 Features Non-np acute np subacute np Onset child/adult infancy child Hep/splen Blood Dis Bone Dis + +/- ++ CNS Degen Death variable by 2yrs 2-4th decade Ethnic Distr Askanazi panethnic Norrbottnian Jews Swedish Gaucher Disease Signs and Symptoms: splenomegaly, hepatomegaly, hematological abnormalities (anemia, leuckocytopenia, thrombocytopenia), pulmonary changes, osseous complications 49
50 Gaucher Disease Gaucher Disease Skeletal Complications Failure to remodel Osteopenia Lytic lesions and fractures Osteonecrosis medullary cortico-cancellous Gaucher crisis Osteomyelitis Gaucher Disease Gaucher Disease Gaucher Disease 50
51 Gaucher Disease Gaucher Disese RBC Gaucher Disease Gaucher Disease Breakdown of red or white cell wall sphingosine-fatty acid-glu-gal-gal- Ceramide -Glucose-Galactose Ceramide -Glucose glycosylceramide hydrolase Ceramide RBC RBC Chromosome 1 Mutations in the gene for Glycosylceramide hydrolase Point mutations,crossovers, recombinations Gaucher Disease Gaucher Disease Treatment Enzyme replacement Cell/organ transplantation Substrate deprivation Gene replacement therapy 51
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