MSK Flashcards
What is ankylosing spondylitis?
a chronic progressive inflammatory arthropathy associated with HLA-B27 gene which ultimately may lead to radiographical changes in the spine and sacroiliac joints.
what percentage of patents with ankylosing spondylitis have HLA-B27 gene? what chromosome is it found on?
90%
autosomal dominant on chromosome 6
what are 3 risk factors for ankylosing spondylitis?
HLA-B27
FHx
male
what are 5 presentations of ankylosing spondylitis?
Severe inflammatory (improved by NSAIDs) back/ butt pain and stiffness
worse in morning (>30 mins) improves with activity
Systemic symptoms
Ethesitis - inflammation of where tendons or ligaments insert into bone
Dactylitis
what are 5 associated conditions with ankylosing spondylitis?
5As
Anterior uveitis
Aortic regurgitation
AV block
Apical lung fibrosis
Anaemia of chronic disease
what age group most commonly presents with ankylosing spondylitis?
late teens to 20s
what test can be done o/e for ankylosing spondylitis?
Schober’s test - assesses spinal mobility
may also have reduced lateral flexion and chest expansion
what are 4 investigations for ankylosing spondylitis?
spine and sacral Xray
HLA-B27 gene testing
Inflammatory markers
MRI spine - bone marrow oedema
what are 7 radiological signs of ankylosing spondylitis?
bamboo spine
squaring of vertebral bodies
subchondral sclerosis
subchondral erosions
Syndesmophtes - areas of bone growth where ligaments insert into bone
Ossifications
Fusions - facet, sacroiliac and costovertebral joints
what is the treatment for ankylosing spondylitis?
1 - NSAIDs
2- anti-TNF - infliximab, etancercept, adalimumab
3 - IL-17 MAB - secukinumab, ixekizumab
OR
JAK inhibitor - Upadacitinib
what are 5 complications of ankylosing spondylitis?
osteoporosis
vertebral fractures
anaemia
cauda equina
apical fibrosis and pulmonary involvement
what are the 5 seronegative spondyloarthropathies?
Psoriatic arthritis
ankylosing spondylitis
reactive arthitis
IBD associated arthritis
juvenile idiopathic arthritis
what are the 8 common symptoms of the seronegative spodyloarthropathies?
SPINE ACHE
sausage digits - dactylitis
Psoriasis
inflammatory back pain
NSAID responsive
Enthesitis - inflammation at point tendon attaches to bone
Arthritis
Crohn’s/Colitis/CRP elevated
HLA-B27
eyes - uveitis
what is fibromyalgia?
a chronic pain syndrome diagnosed by the presence of widespread body pain and tender points at specific anatomical locations
does fibromyalgia affect more men or women?
women
what are the overlapping pain conditions with fibromyalgia?
IBS
TMJD
interstitial cystitis
vulvodynia
tension headaches
what are 3 risk factors for fibromyalgia?
FHx
rheumatic conditions
age 30-60
what are 5 clinical manifestations of fibromyalgia?
chronic pain
diffuse tenderness on examination
fatigue unrelieved by rest/sleep disturbance
morning stiffness
headaches
what are 3 differentials for fibromyalgia?
rheumatoid arthritis
vitamin D deficiency
chronic fatigue syndrome
what is the treatment for fibromyalgia?
Education
exercise
CBT
Pregabalin
Duloxetine
Amitriptyline
what is the criteria for a fibromyalgia diagnosis?
American college of rheumatology 31 point questionnaire including widespread pain score and symptom severity score
Widespread pain index >7 and symptom severity scale score >5
OR
WPI 3-6 and SS scale score >9
Symptoms present for at least 3 months
No other explanation
where are the 9 tender sites in fibromyalgia?
Occiput
Lower cervical region
Trapezius
Supraspinatus
Second rib
Lateral epicondyle
Gluteal region
Greater trochanter
Knees
What is giant cell arteritis?
a granulomatous vasculitis of large and medium-sized arteries. It primarily affects branches of the external carotid artery, and it is the most common form of systemic vasculitis in adults
What is gout?
an inflammatory arthritis caused by deposition of monosodium urate crystals within joints
what are grout crystals like?
monosodium urate - negatively bifringent
needle shaped
what joints is most commonly associated with gout?
big toe - MTP (metatarsophalangeal)
what is gout most commonly caused by?
renal under excretion of urate - 90%
what are 3 risk factors for gout?
Diet of red meat, seafood and alcohol
Diuretics + low dose aspirin
Metabolic syndrome
impaired renal function
what is the pathophysiology of gout?
High urate levels result in super saturation and crystal formation => monosodium urate crystals in joint interact with undifferentiated phagocytes and trigger acute inflammation by inducing TNF-alpha and activating signalling pathways
what are 4 clinical manifestations of gout?
rapid onset of severe joint pain in few joints
joint stiff, red, hot
tophi
what renal disease can gout lead to?
Interstitial nephritis and eventually CKD due to urate crystal deposit
what are 3 investigations for gout?
joint aspiration - gold
serum uric acid levels - 4-6 weeks after attack
joint X-ray
what may be seen on x-ray in gout?
Usually normal
chronic -
Joint effusion but space maintained
Punched out erosions
Lytic lesions
Sclerotic margins
Outlines of tophi
what are 3 bloods needed in a gout work up?
U+E - assess renal function for appropriate dose orf allopurinol
FBC - WCC may be raised Fasting glucose and lipid profile
what are 3 differentials for gout?
pseudo gout
septic arthritis
rheumatoid arthritis
what is the management of an acute gout attack?
1 - NSAID - Naproxen 750mg one off then 250mg every 8 hours
OR
1 - Colchicine - 500 micrograms 2-4x a day - 3-6 days
2 - corticosteroids - 15mg Pred OD PO
continue allopurinol if already on it
what is an adverse effect of colchicine?
diarrhoea
who should colchicine be used with caution in?
renal impairment
dose reduction if eGFR 10-50
Avoid if eGFR <10
what is the management of gout chronically?
lifestyle advise
Uric acid lowering therapy - 1 - allopurinol - 100mg OD PO
2 - Febuxostat
Uricosuric agent - sulfinpyrazone
what is the serum urate target in gout?
<360 micromol/L
<300 micromol/L with tophi, arthritis or ongoing flares
what class of medication is allopurinol?
xanthine oxidase inhibitor
How long should you wait to start urate lowering therapy after an acute attack?
2 weeks - not lots of evidence but may precipitate further attack
what is the criteria for starting urate lowering therapy?
Can start after 1st attack
Definitely if:
2+ attacks
Tophi
Renal disease
uric acid renal stones
prophylaxis if on cytotoxics or diuretics
what are 3 complications of gout?
joint destruction + tophi
kidney disease - acute uric acid nephropathy
urate nephrolithiasis + CKD
what is osteoarthritis?
a non-inflammatory degenerative arthritis characterised by progressive synovial joint damage
what are 7 risk factors for osteoarthritis?
Older age - 50+
Obesity
Occupation
Physically demanding job/sport
Trauma
Family history
Female
what are the 5 X-ray manifestations of osteoarthritis?
JOSSA
joint space narrowing
osteophyte formation
subchondral sclerosis
subchondral cysts
abnormalities of bone contour
what is the pathophysiology of osteoarthritis?
there is a failure in maintaining the homeostatic balance of the cartilage matrix synthesis and degradation, resulting from reduced formation or increased catabolism
what are 5 presentations of osteoarthritis?
Pain
Functional difficulty and reduced ROM
Crepitus
Bony deformaities and joint enlargement
Effusions
what joints does osteoarthritis usually affect?
weight bearing joints asymmetrically
Hips, knees, DIPJ, CMC joint at base of thumb, Lumbar spine, cervical spine
What are 5 hand signs of OA?
Heberdens nodes - DIP joints
Bouchards nodes - PIP joints
Squaring of base of thumb - CMC joint
Weak grip
Reduced ROM
What is the criteria for OA diagnosis?
> 45 years old, typical pain, no /<30 mins of morning stiffness
what is the management for osteoarthritis?
Non pharma - therapeutic exercise, weight loss, occupational therapy
Pharma -
1 - Topical NSAIDs
2 - oral NSAIDs + PPI
3 - intra-articular steroid injections - 2-10 weeks relief
Surgical
- joint replacement
Weak opiates and paracetamol for short infrequent use
what are 5 side effects of NSAIDs?
Gastritis and peptic ulcers - GI bleeds
Renal - AKI (acute tubular necrosis), CKD
Cardio - HTN, heart failure, MI, stroke
Exacerbating asthma
what are heberden’s node?
osteoarthritic nodes of the DIP joints
what are Bouchard’s nodes?
osteoarthritic nodes of the PIP joints
what kind of appearance does erosive OA have on Xray?
gulls wing
What is osteomyelitis?
an inflammatory condition of bone caused by an infecting organism
what is the most common cause of osteomyelitis?
S. Aureus
what is the most common bacterial cause of Osteomyelitis in sickle cell?
Salmonella
what are the 3 paths of infection in osteomyelitis?
Direct inoculation
Contiguous spread from adjacent tissues
Haematogenous spread
what are 7 risk factors for Osteomyelitis?
Open fracture
orthopaedic operations - esp prosthetics
diabetes - esp with ulcers
peripheral arterial disease
IVDU
Immunosuppression
Sickle cell disease
what organisms mainly cause osteomyelitis in infants?
S. Aureus
group B strep
aerobic gram -ve bacili
candida albicans
what organisms mainly causes osteomyelitis in children?
1 - S. Aureus
2 - Strep pneumoniae
Haemophilus influenzae in unvaccinated children
what organisms mainly cause osteomyelitis in adults?
1 - S. Aureus
coagulase negative staph
aerobic gram negatives
anaerobic gram +ve peptostreptococci
what organisms mainly cause osteomyelitis in the elderly?
gram negative bacili
what organisms usually cause osteomyelitis in IVDU?
S. Aureus
Can also get pseudomonas in pelvis
what are 3 risk factors for osteomyelitis?
pHx of osteomyelitis
penetrating injury
IVDU
what is the presentation of acute osteomyelitis?
Symptoms over a few days
Pain, erythema, swelling, warmth
Fever
malaise
what are 3 cpresentations of chronic osteomyelitis?
Local symptoms - swelling, erythema, pain - no systemic symptoms
Draining sinus tract
Non-healing fractures
Diabetes ulcers >2cm
what are 3 investigations for osteomyelitis?
Bloods - FBC, CRP, Cultures
X-ray - may be negative for first 2 weeks
MRI/CT
what are 3 signs of osteomyelitis on x-ray?
periosteal reaction - change in surface of bone
Localised osteopenia
Destruction of areas of bone
what is the gold standard for osteomyelitis?
bone biopsy, cultures and histopathology
what is the treatment of osteomyelitis?
6 weeks IV Abx
- IV Flucloxacillin 8g /day
- Pen allergy - Clarithromycin
Debridement - surgery to remove necrotic bone
what is required for management of osteomyelitis with prosthetic joint involvement?
may require complete revision surgery
what are 3 complications of osteomyelitis?
drug reactions
amputation
recurrence
what is osteoporosis?
Systemic skeletal disease characterised by low bone mass and microarchitectural deterioration of bone tissue with consequent increase in bone fracture and fragility
what is the numerical categorisation of osteoporosis?
bone mineral density (BMD) MORE than 2.5 standard deviations BELOW the gender matched young adult mean value (T score < -2.5)
who is osteoporosis most common is?
post menopausal women
especially caucasian and Asian
what is the cause of osteoporosis?
Low bone mass and abnormal bone architecture => size and shape of bone, bone turn over, micro-architecture, bone mineralisation => can be due to low peak bone mass, loss of bone mass with age, poor bone architecture
mismatch between bone resorption and formation
what are 5 risk factors for osteoporosis?
FHx low BMI/weight androgen deprivation (men) and aromatase inhibitors (women) corticosteroid use smoking
what are 5 presentations of osteoporosis?
kyphosis impaired vision impaired gait back pain imbalance and lower extremity weakness
what is the gold standard investigation for osteoporosis?
dual energy X-ray absorpitometry - DXA scan
what are 3 differentials for osteoporosis?
multiple myeloma
osteomalacia
CKD-bone mineral disorder
what is the treatment for osteoporosis?
1 - Calcium and Vitamin D
bisphosphonates - alendronic acid
2 - Denosumab - MAB that blocks activity of osteoclasts
how do bisphosphonates work?
slow down osteoclast activity => reduce bone breakdown
how does Denosumab work?
anti-resorbative - inhibits osteoclast activity
how does teriparatide work?
anabolic - synthetic parathyroid hormone, increases osteoblastic activity
what is a T-score?
standard deviation score using DXA scan
what are the T score ranges?
> -1 = normal
-1 - -2.5 = osteopenia
< -2.5 = osteoporosis
< -2.5 + a fracture = severe osteoporosis
What is pseudogout?
an acute inflammatory arthritis of one or more joints due to calcium pyrophosphate deposition on joint surfaces
what are 7 risk factors for pseudogout?
advanced age >65
injury/trauma
hyperparathyroidism
haemochromatosis
wilsons disese
acromegaly
low magnesium and phosphate
what kind of crystals are deposited in psudogout?
calcium pyrophosphate crystals
positively bifringent rhomboid shaped crystals
what are 3 manifestations of pseudogout?
Most commonly knee, wrist and shoulders
red painful and tender joints
sudden worsening of osteoarthritis
joint effusion
what can be see on xray in pseudogout?
chondrocalcinosis - calcification in the hyaline and/or fibrocartilage - white line in joint space
can also have oesteoarthritis type changes
what are 3 investigations for pseudogout?
synovial fluid aspirate analysis - gold
joint X ray - chondrocalcinosis
serum calcium + PTH
what are 3 differentials for pseudogout?
gout
septic arthritis
osteoarthritis
what is the management for pseudogout?
1 - NSAIDs or Colchicine
corticosteroid intra-articular
Intra-articular steroids
Oral steroids
what is the general order of affected joints in pseudogout?
Knee > wrist > shoulders > ankles >elbows
What is psoriatic arthritis?
a seronegative chronic inflammatory joint disease associated with psoriasis
what are 5 different types of psoriatic arthritis?
Asymmetrical oligoarthritis - affecting 1-4 joints at a time
Symmetrical polyarthritis >4 joints
Distal interphalangeal predominant pattern
Spondylitis
Arthritis mutilans
what is arthritis mutilans?
most severe form form of psoriatic arthritis - causes osteolysis of bones around joints leading to progressive shortening of digits - telescoping digits
what are 3 risk factors for psoriatic arthritis?
psoriasis
FHx
Hx of joint/tendon trauma
what is one features of psoriatic arthritis that distinguishes it from RhA?
DIP joint involvement
what are 5 hand signs of psoriatic arthritis?
Psoriasis plaques
Nail pitting
onycholysis
Dactylitis
Enthesitis
what are 5 manifestations of psoriatic arthritis?
Painful stiff joints - DIP involvement
Symmetrical or asymmetrical
psoriatic skin lesions - though often precedes plaques
Nail changes
what screening tool can be used for psoriatic arthritis?
psoriasis epidemiological screening tool
What are 4 X-ray features of psoriatic arthritis?
Pencil in cup deformity
periostitis - inflammation of periosteum
ankylosis
osteolysis
dactylitis
what is the mangement for psoriatic arthritis?
NSAIDs - mild
DMARDs - methotrexate, sulfasalazine
anti0TNF-alpha inhibitors - infliximab
MAB - Ustekinumab
what are 3 complications of psoriatic arthritis?
Joint deformity
cardiovascular risks
malignancy- skin cancer
What is reactive arthritis?
A sterile inflammatory arthritis that occurs after exposure to certain gastrointestinal and genitourinary infections.
what is the classic triad of reactive arthritis? what is the way to remember it?
Arthritis
Urethritis + balantitis
Conjunctivitis/anterior uveitis
Can’t see, can’t wee, can’t climb a tree
is reactive arthritis usually asymmetrical?
YES - also usually only affects one joint - mono arthritis
who is reactive arthritis most common in?
Men with HLA-B27
what is one condition that is often associated with reactive arthritis?
HIV - should exclude in presenting patients
what are 5 causative organisms for reactive arthritis?
GU - chlamydia trachomatis, gonorrhoea
GI - salmonella, shingella, campylobacter
what are 4 risk factors for reactive arthritis?
HLA-B27
male
chlamydial/GI infection
HIV
what are 3 investigations for reactive arthritis?
ESR/CRP - elevated
joint aspiration
infectious serology/urine/stool
what are 3 differentials for reactive arthritis?
gout
pseudogout
septic arthritis
what is the management of reactive arthritis?
PRESUME SEPTIC UNTIL PROVEN OTHERWISE
NSAIDs - naproxen/ibruprofen
corticosteroids injections
Tx triggering infection
usually gone in 6 months
DMARDs - in recurrent cases
what are 3 complications of reactive arthritis?
circinate balanitis
uveitis
keratoderma blennorhagicum
What is rheumatoid arthritis?
An autoimmune chronic inflammatory erosive arthritis primarily affecting the small joints of the hands and feet
what percentage of the population have rheumatoid arthritis and who is it most common in?
1%
most common in women
50-55 years
what are 2 risk factors for RhA?
genetics
smoking
what are 5 manifestations of RhA?
Active symmetrical arthritis > 6 weeks morning stiffness lasting >30 mins rheumatoid nodules rheumatoid deformities pleuritic chest pain
what are the 3 types of RhA deformity?
Swan’s neck
Boutonniere - pip always bent
Ulnar deviation
what are 3 investigations for RhA?
Rheumatoid factor - positive
anti-CCP - positive in 70%
X-ray - erosions
what are 3 differentials for RhA?
psoriatic arthritis
infective arthritis
gout
What is the management of RhA?
DMARDs - methotrexate, sulfasalazine, hydroxychloroquine
corticosteroids
NSAIDs
what are 3 complications of RhA?
work disability
increased coronary artery disease
increased joint replacement surgery
What is septic arthritis?
the acute infection of 1 or more joints caused by pathogenic inoculation of microbes. It occurs either by direct inoculation or via haematogenous spread and can destroy a joint in under 24 hours.
what is the most common joint to be infected with septic arthritis?
knee
what is the most common causative organism for septic arthritis?
S. Aureus
who 2 gram negative bacteria cause septic arthritis? what patients in?
E. COLI and PSEUDOMONAS AERUGINOSA
IVDU
immunosuppressed
neonates
elderly
what are 2 gram positive causative bacteria of septic arthritis? what patients affected?
Strep group A (pyogenes) - <5yrs
Staph epidermis - prosthetic joints
who gets neisseria gonorrhoea septic arthritis?
sexually active people
what are 6 risk factors for septic arthritis?
underlying joint disease/prosthetic joint
IVDU, indwelling catheters
immunosuppression
Skin infections
Extremes of age
what are 5 manifestations of septic arthritis?
hot, swollen, painful, red
restricted ROM
fever
affecting single joint (90%)
what are 3 investigations for septic arthritis?
joint aspiration - gold
FBC - leukocytosis
CRP and ESR - high
blood cultures
what are 3 differentials for septic arthritis?
osteoarthritis
pseudogout
Gout
what is the management of septic arthritis?
IV antibiotics - 4-6 weeks
- Fluclox, Clindamycin, Vancomycin
Surgical drainage either needle aspiration or arthroscopy
STOP methotrexate and anti-TNF alpha
double steroids (if on)
rest and splint
what is the aspirate WCC in septic arthritis usually?
> 50 000
what are 3 complications of septic arthritis?
sepsis
osteomyelitis
joint destruction
What is systemic lupus erythramatosus?
a chronic systemic autoimmune condition caused by a type 3 hypersensitivity reaction
who most commonly presents with SLE?
women in their childbearing years
most commonly of African or asian descent
What are 5 environmental triggers for SLE?
UV light Smoking Medications Sex hormones EBV
What is the pathophysiology of SLE?
Environmental triggers cause cell death creating apoptotic bodies. There is reduced clearance or these apoptotic bodies and cellular and the immune system of these patients doesn’t recognise the cellular debris as self and so attack the cell material, forming nuclear antigen-antibody complexes. These complexes can deposit in different tissues and activate complement causing inflammation and damage - a type III hypersensitivity reaction
what are 10 manifestations of SLE?
malar (butterfly)/ photosensitive /discoid rash lupus nephritis fever and fatigue arthralgia/arthritis Raynaud's disease pericarditis and myocarditis anaemia pleuritis and peritonitis psychosis, seizures, migraine
what are 4 blood tests for SLE?
FBC - may have anaemia, thrombocytopaenia and leukopaenia
U+E - check for lupus nephritis
ESR - raised
CRP - normal
what are 3 antibody tests for SLE?
ANA (anti-nuclear antibodies) - most sensitive
Anti-dsDNA - most specific
Anti-smith antibodies - most specific, not sensitive
Rheumatic factor - 20% positive
what are 3 differentials for SLE?
Rheumatoid Arthritis- SLE less symmetrical
antiphospholipid syndrome
mixed connective tissue disease
what is the treatment for SLE?
hydroxychloroquine (anti-malarial)
NSAIDs
corticosteroids - prednisolone
immunosuppressants - methotrexate
what are 4 complications of SLE?
anaemia
osteoporosis
kidney failure - lupus nephritis
pericarditis
how long does morning stiffness in OA last?
<30 mins
what is FRAX?
predicts risk of fragility fracture over the next 10 years
age, BMI, smoking, alcohol
what group of people does N. Gonorrhoea cause septic arthritis in?
sexually active young adults
what antibiotics are used in septic arthritis?
IV flucoxacillin - gram pos
(clindamycin in allergy)
IV cefotaxime - gram neg
what are 4 risk factors for SLE?
female
FHx
middle aged
what is mechanical back pain?
the source of the pain is in the spinal joints, discs, vertebrae, or soft tissues.
what are 3 risk factors for mechanical back pain?
female
increasing age
fibromyalgia
what is the imaging of choice for mechanical back pain?
MRI
what is the gold standard investigation of osteomalacia?
iliac bone biopsy with double tetracycline labelling
rare as invasive
what is osteomalacia?
a metabolic bone disease characterised by incomplete mineralisation of the underlying mature organic bone matrix (osteoid) following growth plate closure in adults
caused by vitamin D deficiency
rickets in children
what causes osteomalacia?
vitamin D deficiency
calcium or phosphate deficiency
what is the presentation for osteomalacia and vitamin D deficiency?
Fatigue
Bone pain
Muscle weakness
muscle aches
pathological or abnormal fractures
what are 3 skeletal changes that can be seen in osteomalacia?
Pseudofractures - Looser’s zones - radiolucent bands traversing part way though bones due to demineralisation
Bowing deformities
Vertebral fractures
what are 4 risk factors for osteomalacia?
risks for low vitamin D
Darker skin
low sunlight exposure
living in cold climates
spending most of time indoors
what is normal serum vitamin D?
50-75 nmol/L
what are 5 investigations for osteomalacia?
serum calcium and phosphate
serum 25-hydroxyvitamin D
PTH level - may be high
Alk phos - might be high
what is the treatment of osteomalacia?
Colecalciferol - 50 000 IU weekly for 6 weeks or 4000IU OD for 10 weeks
IM calcitrol - if suspected absorption issue
should check calcium in first month as low vitamin d may mask hypercalcaemia in primary hyperparathyroidism
How much vitamin d should everyone be taking?
400IU (10 micrograms)
which disks are most commonly affected in vertebral disc degeneration?
lower lumbar spine
what age group get disc prolapse?
young people - 20-40 years
what are 4 manifestations of acute vertebral disc disease ?
sudden onset sever back pain with trigger
decreased range of motion
tingling, numbness, paresthesia
muscle weakness and atrophy
what is Paget’s disease of the bone?
A disease of increased uncontrolled bone turnover thought to be due to excessive osteoclastic resorption followed by increased osteoblastic activity
what are 3 risk factors for Paget’s disease?
FHx
50+
infection
what are the 3 stages of Paget’s disease?
lytic phase - excessive osteoclast activity
mixed osteoclastic and osteoblastic phase - excessive resorption and disorganised bone formation
Sclerotic phase – osteoblast lay down excessive disorganised bone with osteoclasts being less active
what are 5 manifestations of Paget’s disease?
bone pain
growth of bones in face - leontiasis, hearing loss, vision loss
kyphosis
pathological fractures
what disease can cause cotton wool appearance of skull on x-ray?
Paget’s disease - due to osteoclastic activity and sclerotic lesions
what are 3 investigations for Paget’s disease of the bone?
X-ray - osteolytic lesions, fractures, slerotic changes, bone enlargement and deformity
Radionucleotide bone scan
LFTs - raised alk phos
what is the management of Paget’s disease of the bone?
1 - Bisphosphonates - alendronic or zolendronic acid
calcitonin
analgesia
calcium + vitamin D
surgery for severe deformity
what are 4 complications of Paget’s disease of the bone?
Hearing loss - if affecting ossicles/vestibulocochlear nerve
Heart failure - high output due to vascular new bone
osteosarcoma
spinal stenosis and cord compression
what chromosome is the mutation that causes Marfan’s on?
chromosome 15
Affects gene responsible for creating fibrillin - protein fibrillin-1
what is the inheritance pattern of marfans?
autosomal dominant