MSK Disorders/Syndromes Flashcards
Marfan inheritance and gene
AD
Fibrilin 1 gene - chromosome 15
3 non-ortho presentations of Marfans
- Cardiac - aortic root dilation, dissection, mitral valve prolapse (beta blockers). ECHO and cards consult
- Scoliosis, dural ectasia (widening of dural sac around cord) - MRI pre op
- Pectus - spontaneous PTX
- Superior lens dislocation (vs inf = homocystinuria)
Ortho treatments for Marfans
Brace -> long fusion scoliosis
- MRI pre op: dural ectasia (widening of dural sac around cord)
Close triradiate cartilage for progressive protrusio acetabuli
Brace vs surg for flat feet
OA vs RA - which joints in the hands are affected
OA: IP
RA: MCP, ulnar dev, extensor nodules
Classic XR findings RA
Symmetric jt space narrowing
Periarticular erosions
Pathophys OA
Chondrocytes release MMPs - breakdown ECM
Cytokines in joint fluid
Prostaglandin causes pain
Pathophys RA
T and B cells attack synovium -> macrophage and cytokine response breaks down cartilage
Only 50% ish have +RF
3 types of juvenile rheumatoid/idiopathic arthritis
RF+
- Systemic = Stills disease
- Fever, acute presentation w/ high WBC
- Worst long term prognosis - Oligoarticular
- <4 jts (“limp that improves during the day”)
- Check for uveitis and LLD - Polyarticular
- >5jts, often small
- Check uveitis
Name the 4 seroneg spondyloarthropathies
Ank spond Psoriatic arthritis Reactive arthritis / Reiter's Enteropathic - Crohn's, IBD Auto immune, ALL RF negative
Spine presentation of ank spond
Sacroiliitis - +FABER, bilateral ST joint erosions on XR
- “Morning stiffness and low back pain”
Marginal syndesmophytes - inflam annulus -> bridging osteophytes (bamboo spine) and squaring of vertebrae
Progressive kyphosis
**always get a CT in trauma setting - easy to miss frx, often unstable
What lab marker (besides RF) is often positive in ank spond
HLA B27
Non-ortho presentations ank spond
Uveitis
Cards: conduction, ascending aorta issues
Pulm: fibrosis (less chest wall expansion), Kleb pna
Aphthous mouth ulcers
Treat ank spon
PT and NSAIDs
By system PRN
Classic XR and presentation of psoriatic arthritis
Pencil in cup phalanx XR
Nail pitting, sausage digits
Bugs and pathophys of reactive arthritis
Chlamydia, Yersinia, Salmonella, Campy, Shigella
Immune complexes deposit into joints
Pathophys of Rickets
Defective osteoid mineralization
Clinical presentation of Rickets
Genu varum (bow legs)
Most common type of rickets - inheritance, labs, treat
HypoPO4
X-dom, PHEX gene
Low PO4, high alk phos
Trt: PO4 + vid D
Pathophys, labs and treat nutritional rickets
Vit D deficiency
Low vit D -> low GI Ca2+ -> high PTH -> high alk phos
+vit D
What is the diff between type 1 and 2 vit D dep rickets
Type 1 - low vit D
Type 2 - high vit D, also alopecia
Treat both with vit D supplement
What is a maternal RF for Down syndrome
Advanced maternal age
Spine concern and trt Downs
AA instability
- ADI > 5 + sx = fuse
- ADI > 10 + asx = fuse
Scoli more common - likely long fusion bc soft tissue laxity
LE sx for Downs
Hip instability 2/2 lig laxity and hypotonia
Knee pain/patellar instability from alignment issues
Describe the makeup of type 1 collage
2 alpha 1 chains
1 alpha 2 chains
Form triple helix b/c glycine at every 3rd amino acid
