Musculoskeletal Pathology - but no skin, vasculitides or tumors
Terms
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- Achondroplasia does not affect which type of bone formation?
- Membranous ossification is not affected (skull, facial bones, and axial skeleton are normal). Head and trunk are normal in size, but limbs are much shorter than normal.
- What's the classic presentation of osteoarthritis?
- Pain in weight bearing joints after use (eg. at the end of the day), improving with rest. No systemic symptomes. Common in older patients.
- name 7 mechanical features of osteoarthritis:
-
-wear and tear of joins leads to destruction of articular cartilage
-subchondral bone formation
-sclerosis
-ostephytes
-eburnation - bone looks shiny because it's lost cartilage
-Heberden's nodes (DIP)
-Bouchard's nodes (PIP) - What's the classic presentation of Rheumatoid Arthritis?
-
-morning stiffness improving with use
-symmetric joint involvement
-systemic symptomes (fever, fatigue, pleuritis, pericarditis) - Lab test for Rheumatoid Arthritis:
- 80% of RA patients have positive Rheumatoid Factor (anti-IgG antibody)
- Etiology and Pathologies of Rheumatoid Arthritis
-
-Autoimmune-inflammatory disorder affecting synovial joints with pannus formation in joints (MCP, PIP)
-subcutaneous rheumatoid nodules
-ulnar deviation
-subluxation. - Which arthritis is worse in the morning? which at night?
- Rheumatoid arthritis is worse in the morning, osteoarthritis is worse after a long days use.
- Which arthritis gets better with use?
- Rheumatoid arthritis- morning stiffness improves with use.
- what are the 4 systemic symptoms of rheumatoid arthritis?
-
fever
fatigue
pleuritis
pericarditis - what are the systemic symptoms of osteoarthritis?
- there are no systemic symptomes of osteoarthritis
- Definition of osteoporosis
- reduction of bone mass in spite of normal bone mineralization
- Type 1 vs Type 2 osteoporosis
-
Type 1:
-Postmenopausal
-increased bone resorption due to decreased estrogen levels
-estrogen replacement is controversial as prophylaxis due to side-effects
Type 2: (Senile Osteoperosis)
-affects men and women older than 70 - What racial groups does osteoperosis affect?
- whites > blacks > asians
- 3 Common fractures in osteoporosis
-
-Vertebral crush fractures--acute back pain, loss of height, kyphosis
-Distal radius (Colles') factures
-vertebral wedge fractures - Treatement for osteoperosis
- Bisphosphonates or pulsatile PTH for severe cases
- Osteopetrosis is also known as
-
marble bone disease
(is also known as) - Osteopetrosis is caused by
- Abnormal function of osteoclasts → Failure of normal bone resorption → thickened, dense bones
- blood values in osteopetrosis
- Serum Calcium, Phosphate and Alkaline Phosphatase are ALL NORMAL.
- In osteomalacia/rickets, vitamin D deficiency leads to...
-
Vitamin D deficiency → ↓Calcium → ↑PTH secretion, ?serum phosphate
Defective mineralization of osteoid → soft bones - Osteitis Fibrosa Cystica is caused by
- Hyperparathyroidism
- Osteitis Fibrosa Cystica is characterized by
- "brown tumors" (cystic spaces lined by osteoclasts, filled with fibrous stroma and sometimes blood)
- what are brown tumors?
- cystic spaces lined by osteoclasts, filled with fibrous stroma and sometimes blood - found in Osteitis Fibrosa Cystica
- blood values in Osteitis Fibrosa Cystica
-
High serum calcium
Low serum phosphorus
High alkaline phosphatase - Paget's disease is also known as
- osteitis deformans
- Paget's disease (osteitis deformans) is caused by
- abnormal bone architecture caused by an ↑ in both osteoblastic and osteoclastic activity
- blood values in paget's disease (osteitis deformans)
-
serum calcium, phosphorus and PTH levels are normal
Serum Alkaline Phosphatase is Elevated! - what is Polyostotic Fibrous Dysplasia?
- Bone is replaced by fibroblasts, collagen, and irregular bony trabeculae. Affects many bones.
- What is Albright's Syndrome?
- a form of polyostotic fibrous dyplasia in which there are multiple unilateral bone lesions associated with endocrine abnormalities (precocious puberty) and unilateral pigmented skin lesions
- How does Polymyalgia Rheumatic present?
-
Pain and siffness in shoulders and hips, often with fever, malaise, and weight loss.
Does not cause muscle weakness
Occurs in patients >50 y.o.
*Associated with temporal (giant cell) arteritis - what blood values would you see in Polymyalgia Rheumatica?
- ↑ ESR
- How do you treat Polymyalgia Rheumatica?
- prednisone
- Polymyositis - what is it and what's it caused by?
- Progressive proximal muscle weakness caused by CD8+ T-cell-induced injury to myofibers.
- How do you diagnose Polymyositis?
-
muscle biopsy with evidence of inflammation is diagnostic
Labs show:
↑CK
↑aldolase
positive ANA
anti-Jo-1 - what is dermatomyositis?
- similar to polymyositis but also involves skin rash and ↑ risk for malignancy
- How do you diagnose dermatomyositis?
-
Labs show:
↑CK
↑aldolase
positive ANA
anti-Jo-1 - 6 characteristics of Mixed Connective Tissue Disease
-
Raynaud's phenomenon
Arthralgias
Myalgias
Fatigue
Esophageal Hypomotility
Antibodies to U1RNP - Classic triad of Sjogren's syndrome
-
Xerophthalmia - dry eyes, conjunctivitis
Xerostomia - dry mouth, dysphagia
Arthritis
(also see parotid enlargment) - Autoantibody production in Sjogren's syndrome
-
Autoantibodies to:
ribonucleoprotein antigens
SS-A (Ro)
SS-B (La) - Associated diseases with Sjogren's syndrome
-
Sjogrens patients have ↑ risk of B-cell lymphoma.
Sjogren's is also associated with rheumatoid arthritis
and Sicca syndrome (a type of sjogren's?) - what is Sicca syndrome? (5 symptomes)
-
another name for Sjogren's syndrome?
-Dry eyes,
-dry mouth
-nasal and vaginal dryness
-chronic bronchitis
-reflux esophagitis - Sjogren's affects which demographic predominantly?
- Females, 40-60 y.o.
- Systemic Lupus Erythematosus affects which demographic predominantly?
- 90% are female between 14 - 45 y.o. Mostly black females.
- Mnemonic for Lupus and associated symptoms
-
I'M DAMN SHARP
Immunoglobulins (anti-dsDNA, anti-Sm, antiphospholipid)
Malar rash
Discoid rash
Antinuclear antibody
Mucositis (oropharyngeal ulcers)
Neurologic disorders
Serositis (pleuritis, pericarditis)
Hematologic disorders
Arthritis
Renal disorders
Photosensativity - 7 symptoms for Lupus (not found in IM DAMN SHARP)
-
fever
fatigue
weight loss
nobacterial verrucous endocarditis
hilar adenopathy
Raynaud's phenomenon - Renal characteristics of Lupus
-
WIRE LOOP lesions in kidney with immune complex deposition (with nephrotic syndrome)
Death from renal failure and infections - _______ are found in drug-induced lupus
- Antihistone antibodies
- Lupus can cause false positives on which test? why?
- syphilis tests (RPR/VDRL) due to antiphospholipid antibodies
- Lab tests for lupus detect which antibodies?
-
Antinuclear antibodies (ANA) - sensitive, but not specific for SLE
Antbodies to double-stranded DNA (anti-dsDNA) - very specifice, poor prognosis
Anti-Smith antibodies (anti-Sm) - very specific, but not prognostic
Antihistone antibodies - drug-induced lupus - Which antibodies indicate a poor prognosis in lupus?
- Anti-dsDNA
- what is Celiac sprue caused by?
- Autoimmune-mediated intolerance of gliadin (wheat) leading to steatorrhea
- what type of diarrhea is found in Celiac sprue
- steatorrhea
- Celia sprue is associated with which race?
- people of northern european descent
- 3 Findings in Celia sprue
-
blunting of villi
lymphocytes in the lamina propria
abnormal D-xylose test - what part of the GI tract does celia sprue affect?
- tends to affect the Jejunum
- what other 2 diseases is celiac sprue associated with?
-
dermatitis herpetiformis
and 10-15% lead to malignancy (most often T-cell lymphoma) - what crystals precipitate in the joints in gout?
- monosodium urate crystals
- what is gout?
- precipitation of monosodium urate crystals into the joints due to hyperuricemia
- 5 etiologies of gout
-
Lesch-Nyhan syndrome
PRPP excess
Decreased excretion of uric acid
glucose-6-phosphatase deficiency
Thiazide Diuretics - What class of drugs can lead to gout? why?
- Thiazide diuretics, which competitively inhibit the secretion of uric acid
- is the joint distribution in gout symmetric or asymmetric?
- asymmetric
- 2 classic manifestations of gout
-
Painful MTP joint in the big toe (Podagra)
Tophus formation (often on external ear or Achilles tendon) - Describe gout crystals
- needle shaped and negatively birefringent
- demographic of gout
- more common in men
- when do acute attacks of gout usually occur?
- after alcohol consumption or a large meal
- 4 treatments of gout
-
Allopurinol
Probenecid
colchicine
NSAIDs - describe the crystals found in pseudogout
-
calcium pyrophosphate crystals found in pseudogout are:
basophilic
rhomboid
weakly positively birefringent - what crystals are found in pseudogout
- calcium pyrophosphate crystals
- what joints are affected in pseudogout
- large joints (especially the knee)
- demographics of pseudogout
-
>50 y.o.
both sexes affected equally - treatment for pseudogout
- no treatment
- 2 major Findings in Goodpasture's Syndrome
-
pulmonary hemorrhages -> hemoptysis
renal lesions -> hematuria, anemia, crescentic glomerulonephritis - demographics of Goodpasture's syndrome
- most common in men 20-40
- immonofluorescence pattern seen in Goodpasture's
- anti-glomerular basement membrane antibodies produce linear staining on immunofluorescence
- Goodpastures is a Type # hypersensitivity?
- Type 2
- Sarcoidosis is characterized by
- immune mediated, widespread noncaseating granulomas and elevated serum ACE levels.
- Mnemonic for Sarcoidosis
-
GRAIN
Gammaglobulinemia
Rheumatoid arthritis
ACE increase
Interstitial fibrosis
Noncaseating granulomas -
Associated with:
restrictive lung disease
bilateral hilar lymphadenopathy
erythema nodosum
Bell's palsy
Epithelial granulomas containing microscopic Schaumann and asteroid bodies
uveoparotitis
hypercalcemia (due t - Sarcoidosis
- why do you see hypercalcemia in Sarcoidosis
- b/c of elevated conversion of vitamin D to its active form in epitheliod macrophages
- Epithelial granulomas containing ____________ are found in Sarcoidosis
- epithelial granulomas containing microscopic Schaumann and asteroid bodies
- name 2 seronegative spondyloarthopathies
-
Ankylosing spondylitis
Reiter's syndrome -
Arthritis without rheumatoid factor (no anti-IgG antobody)
Strong association with HLA-B27 (gene that codes for HLA MHC I)
-describes what group of diseases - seronegative spondyloarthopathies
- what does HLA-B27 code for?
- gene that codes for HLA MHC I
- HLA-B27 is associated with which 4 diseases?
-
Psoriasis
Ankylosing Sponylitis
Inflammatory bowel disease
Reiter's syndrome
mnemonic: PAIR - demographics of seronegative spondyloarthopathies
- most often in males
- Describe Ankylosing spondylitis
- Chronic inflammatory disease of spine and sacroiliac joints → ankylosis (stiff spine), uveitis, and aoritic regurgitation
- Classic triad of Reiter's syndrome
-
Urethritis
Conjunctivitis and anterior uveitis
Arthritis
Can't see, can't pee, can't climb a tree - Reiter's syndrome often occurs post-____ infections?
- post-GI or chlamydia infections
- another name for Scleroderma?
- Progressive systemic sclerosis - PSS
- 2 major categories of Scleroderma
-
Diffuse scleroderma
CREST syndrome -
Scleroderma is characterized by?
which organs are affected? -
Excessive fibrosis and collagen deposition throughout the body.
Commonly sclerosis of skin but also of cardiovascular and GI systems and kidney - demographics of scleroderma
- 75% female
- which antibodies are Diffuse scleroderma and CREST syndrome associated with?
-
Diffuse scleroderma - anti-Scl-70 antibody
CREST syndrome - anticentromere antibody - describe Diffuse scleroderma
-
widespread skin involvement,
rapid progression,
early visceral involvement.
Associated with anti-Scl-70 antibody - describe CREST syndrome
-
Calcinosis
Raynaud's phenomenon
Esophageal dysmotility
Sclerodactyly
Telangiectasia
Limited skin involvement, often confined to fingers and face
More benign clinical course
associated with anti-centromere antibody - mutation in Achondroplasia
- FGF receptor 3
- pannus formation
- Rheumatoid Arthritis
- ulnar deviation,
- Rheumatoid Arthritis
- fever, fatigue, pleuritis, pericarditis
- systemic symptomes of Rheumatoid Arthritis
- Boutonnière deformity, Swan-neck deformity, Z-thumb deformity
- Rheumatoid Arthritis
- ↑ bone resorption due to ↓estrogen levels.
- Type 1 (postmenopausal) osteoporosis
- Senile osteoporosis––
- Type 2 osteoporosis. >70 y.o.
- tx for osteoporosis
- Bisphosphonates or pulsatile PTH for severe cases.
- Failure of normal bone resorption → thickened, dense bones.
- Osteopetrosis (marble bone disease)
- Bone defect is due to abnormal function of osteoclasts.
- Osteopetrosis (marble bone disease)
- Serum calcium, phosphate, and alkaline phosphatase are normal.
- Osteopetrosis (marble bone disease)
- Defective mineralization of osteoid → soft bones.
- Osteomalacia/rickets
- Vitamin D deficiency in adults →
-
↓ calcium levels →↑ secretion of PTH
Osteomalacia/rickets - Caused by hyperparathyroidism.
- Osteitis Fibrosa Cystica
- Characterized by “brown tumors†(cystic spaces lined by osteoclasts, filled with fibrous stroma and sometimes blood).
- Osteitis Fibrosa Cystica
- High serum calcium, low serum phosphorus, and high alkaline phosphatase
- Osteitis Fibrosa Cystica
- Abnormal bone architecture caused by ↑ in both osteoblastic and osteoclastic activity.
- Paget’s disease (osteitis deformans)
- osteitis deformans -- aka?
- Paget’s disease
- Serum alkaline phosphatase is elevated.
-
Paget’s disease (osteitis deformans)
Osteitis Fibrosa Cystica - Bone is replaced by fibroblasts, collagen, and irregular bony trabeculae.
- Polyostotic fibrous Dysplasia
- unilateral pigmented skin lesions.
-
Albright’s syndrome
Albright’s syndrome is a form of polyostotic fibrous dysplasia in which there
are multiple unilateral bone lesions associated with endocrine abnormalities
(precocious puberty) and unilateral pigmented skin lesions. - Pain and stiffness in shoulders and hips, often with fever, malaise, and weight loss.
- Polymyalgia Rheumatica
- Does Polymyalgia Rheumatica cause muscle weakness?
- NO
- ↑ ESR. Occurs in patients > 50 years of age
- Polymyalgia Rheumatica
- associated with temporal (giant cell) arteritis
- Polymyalgia Rheumatica
- Does Polymyositis cause muscle weakness?
- Yes - progressive proximal muscle weakness caused by CD8+ T-cell-induced injury to myofibers. Muscle biopsy with evidence of inflammation is diagnostic.
- Muscle biopsy with evidence of inflammation is diagnostic.
- Polymyositis/dermatomyositis
- involves skin rash and ↑ risk of malignancy.
- dermatomyositis
- ↑ CK, ↑ aldolase, and positive ANA, anti-Jo-1.
- Labs for polymyositis/dermatomyositis
- Raynaud’s phenomenon, arthralgias, myalgias, fatigue, and esophageal hypomotility.
- Mixed connective Tissue Disease
- Antibodies to U1RNP.
- Mixed connective Tissue Disease
- Raynaud's phenomenon AND Esophageal dysmotility/hypomotility are seen in which 2 diseases?
-
Mixed connective Tissue Disease
CREST Scleroderma - Raynaud's phenomenon is seen in whic 4 diseases?
-
Mixed connective Tissue Disease
CREST Scleroderma
Systemic Lupus Erythematosus
Buerger's disease (vasculitis) - Parotid enlargement,
- Sjögren’s syndrome
- ↑ risk of B-cell lymphoma
- Sjögren’s syndrome
- 2 diseases associated with rheumatoid arthritis
-
Sjögren’s syndrome,
Sarcoidosis -
-xerophthalmia (dry eyes, conjunctivitis)
-xerostomia (dry mouth, dysphagia)
-arthritis
Parotid enlargement, - Sjögren’s syndrome
- dry eyes, dry mouth, nasal and vaginal dryness, chronic bronchitis, reflux esophagitis.
- Sicca syndrome
- Symptoms include fever, fatigue, weight loss, nonbacterial verrucous endocarditis, hilar adenopathy, and Raynaud’s phenomenon.
- Lupus
- 90% are female and between ages 14 and 45. (Especially black females)
- Lupus
- lymphocytes in the lamina propria, abnormal D-xylose test, blunting of villi,
- Celiac sprue
- 10–15% lead to malignancy (most often T-cell lymphoma)
- Celiac sprue
- Associated with dermatitis herpetiformis
- Celiac sprue
- Autoimmune-mediated intolerance of gliadin (wheat) leading to steatorrhea.
- Celiac sprue
- monosodium urate crystals
- Gout
- Gout can be caused by
-
hyperuricemia <-- Lesch-Nyhan syndrome, PRPP excess, ↓ excretion of uric acid, or glucose-6-phosphatase deficiency.
Also associated with the use of thiazide diuretics, which
competitively inhibit the secretion of uric acid. -
Crystals are needle shaped and negatively
birefringent. - Gout
- Tophus formation often occurs in
- external ear or achillis tendon
- Acute Gout attack tends to occur after
- alcohol or large meal
- calcium pyrophosphate crystals
- Pseudogout
- basophilic, rhomboid crystals that are weakly positively birefringent
-
Pseudogout
calcium pyrophosphate crystals - Usually affects large joints (classically the knee)
- Pseudogout
-
pulmonary hemorrhages → hemoptysis;
renal lesions → hematuria, anemia, crescentic glomerularnephritis - Goodpasture’s
- Goodpasture’s is most common in
- men 20-40 y.o.
- Anti–glomerular basement membrane antibodies produce linear staining on immunofluorescence.
- Goodpasture’s
- Characterized by immune-mediated, widespread noncaseating granulomas and elevated serum ACE levels. Common in black females.
- Sarcoidosis
-
GRAIN in Sarcoidosis stands for?
BHUSHAN & LE is on hint -
Gammaglobulinemia
Rheumatoid arthritis
ACE increase
Interstitial fibrosis
Noncaseating granulomas -
BHUSHAN & LE in Sarcoidosis stand for?
GRAIN is on hint -
-Bell’s palsy
-hilar lymphadenopathy
-uveoparotitis,
-Schaumann bodies (in epithelial granulomas)
-hypercalcemia (due to
elevated conversion of vitamin D to its active
form in epithelioid macrophages)
-asteroid bodies (in epithelial granulomas)
-noncaseating granulomas
-restrictive Lung disease,
-erythema nodosum (inflammation of fat under skin. Tender, red nodules usually on shins) - Arthritis without rheumatoid factor (no anti-IgG antibody).
-
Seronegative Spondyloarthropathies
-Ankylosing Spondylitis
-Reiters -
ankylosis (stiff spine) uveitis
aortic regurgitation -
Ankylosing spondylitis
Chronic inflammatory disease of spine and sacroiliac joints → ankylosis (stiff spine), uveitis, and aortic
regurgitation. -
Urethritis
Conjunctivitis and anterior uveitis
Arthritis -
Reiter’s syndrome
Post-GI or chlamydia
infections. - Excessive fibrosis and collagen deposition throughout the body. 75% female.
- Scleroderma (Progressive Systemic Sclerosis - PSS)
- CREST syndrome
- Calcinosis, Raynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasia. Limited skin involvement, often confined to fingers and face. More benign clinical course. Associated with anticentromere antibody
- Limited skin involvement, often confined to fingers and face
- CREST syndrome
- anticentromere antibody
- CREST syndrome
- anti-Scl-70 antibody
- Diffuse scleroderma
- widespread skin involvement, rapid progression, early visceral involvement.
- Diffuse scleroderma
- Scleroderma is commonly sclerosis of the skin but also of the
- cardiovascular and GI systems and kidney.