MSK + Rheum Flashcards
(265 cards)
1
Q
What is the functional unit of bone?
A
Osteon
2
Q
What bone is found on the inside and which on the outside?
A
- Outside = hard cortical bone
- Inside = soft spongy trabecular/cancellous bone
3
Q
What is found within trabecular bone?
A
Bone marrow
4
Q
What canals travel vertically within bone?
A
Haversion canal
5
Q
What canals travel horizontally within bone and connect osteons?
A
Volkmann canal
6
Q
What is the main inorganic component of bone?
A
Hydroxyapetite
7
Q
What is the main organic component within bone?
A
Type 1 collagen
8
Q
What are the three types of joint?
A
- Fibrous - skull sutures
- Cartilaginous - IV discs
- Synovial
9
Q
What are the 3 components of synovial joint?
A
- Articular cartilage
- Joint capsule
- Synovial cavity (filled with fluid)
10
Q
What is the most common type of arthritis?
A
Osteoarthritis
11
Q
What causes joints to become osteoarthritic?
A
Mechanical shearing forces
12
Q
What are some risk factors for osteoarthritis (5)?
A
- Age (50+)
- Female
- Obesity
- Occupation/ lifestyle
- Genetics
13
Q
What gene has been linked to osteoarthritis?
A
COL2A1
14
Q
How do arthritic joints form in osteoarthritis?
A
Chondrocyte metalloproteinase production (degrades T2 collagen) –> imbalanced cartilage breakdown > repair
15
Q
Where is T2 collagen found?
A
Cartilage
16
Q
How does bone try and compensate for its degradation in OA?
A
T1 collagen grows to replace T2 breakdown; abnormal bony growths form
17
Q
What are the abnormal bony lumps seen in osteoarthritis called?
A
Osteophytes
18
Q
When is joint pain worse in osteoarthritis?
A
Worse with movement, as day goes on
19
Q
Which joints are affected the most by osteoarthritis (5)?
A
- Hips
- Knees
- DIP
- Base of thumb (1st CMC)
- Wrist
Mostly weight bearing joints
20
Q
What are bony growths/ nodes called on the DIP and PIP?
A
- DIP = Hebdern nodes
- PIP = Bouchard nodes
H after B, therefore further away (DIP)
21
Q
How is OA investigated?
A
- X-ray of affected joints
Not essential if patient over 45
22
Q
What signs are seen in an OA X-ray (4)?
A
- Loss of joint space
- Osteophytes
- Subchondral sclerosis (increased density along joint line)
- Subchondral cysts
23
Q
How is OA managed (3)?
A
- Lifestyle changed (reduce weight, physio)
- NSAIDs (pain relief, inflammation)
- Surgical joint replacement
24
Q
What is the restoration of a joint called?
A
Arthroplasty
25
What is rheumatoid arthritis?
Inflammatory, autoimmune polyarthritis
26
What pattern does RA affect the joins?
Symmetrically
27
What are some risk factors for RA?
* Female
* 30-50 years
* Smoking
* Genetics
28
What genes are associated with RA (2)?
* HLA-DR4
* HLA-DRB1
29
What protein mutation is seen in RA?
Arginine --> citruline; mutation in T2 collagen
30
What antibodies form as a result of this mutation in T2 collagen in RA?
* RF antibody (against IgG)
* Anti-CCP (against citruline)
31
What is released in RA joints that causes the synovial lining to proliferate?
Cytokines (e.g. interferons, TNF)
32
What is the growth + expansion of the synovial lining called?
Pannus
33
What effects does the growth of the pannus have within the joint?
Damages bone + cartilage --> more inflammation
34
When is joint pain worse with RA?
Worst in the morning, improves with movement
35
What signs are seen in the hands of people with rheumatoid arthritis (4)?
* Boutonnières deformity (hyperextended DIP, flexed PIP)
* Swan neck deformity (flexed DIP, hyperextended PIP)
* Z thumb shape
* Ulna deviation of fingers
36
Which joints are commonly affected in RA (4)?
* PIP
* MCP
* Wrist + ankle
* Cervical spine
37
What temperatures are RA joints?
Often hot
38
What are some extra-articular manifestations of RA (4)?
* Pulmonary fibrosis
* Atherosclerosis
* Skin nodules (often on elbows)
* Spinal cord compression
39
How is RA investigated (3)?
* ESR/CRP high
* RF +ve, anti-CCP (more specific 80%)
* X-ray
40
What is seen in an X-ray of those with RA (4)?
* Loss of joint space
* Boney erosions
* Soft tissue swelling
* Periarticular osteopenia
41
How is RA managed order medications are used?
* NSAIDs/ steroids for flares
* DMARD
* 2 DMARDs
* DMARD + biologic
* DMARD + rituximab
42
What is the first line DMARD for RA?
Methotrexate
43
What DMARDs can be used in combination?
* Sulfasalazine
* Hydroxychloroquine (more mild, anti-malarial)
44
How does methotrexate work?
Interferes with folate metabolism
45
What is sometimes taken with methotrexate?
Folic acid
46
What is the first line biologic class for RA?
TNF inhibitor
47
Give an example of a TNF inhibitor?
Infliximab
48
What is infliximab?
Monoclonal antibody against TNF
49
What is a second line biologic drug?
Rituximab
50
How does rituximab work?
Monoclonal antibody, targets CD20 on B-cells
51
What is gout?
Deposition of uric acid crystals along a joint
52
Is gout inflammatory or non inflammatory?
Inflammatory (most common inflammatory arthritis in uk)
53
What are some risk factors for gout (5)?
* Male
* Obesity
* High purine diet
* Kidney disease
* Middle aged (50-70)
54
Give some examples of purine rich foods (3)?
* Red meat
* Seafood
* Alcohol (especially beer)
55
What food type is protective against gout?
Dairy
56
What is the most common type of uric acid crystal?
Monosodium urate crystals
57
Explain how monosodium urate crystals form?
Purine --> uric acid --> monosodium urate
58
What is the pattern of joints affected by gout?
Often only 1 joint is affected
59
Which joints are commonly affected by gout (3)?
* Big toe (MTP)
* Wrist
* Base of thumb (CMC)
60
What are the sign/ symptoms of gout at the joint?
Sudden onset (pain, red, swollen, hot, can't put weight on it)
61
How is gout diagnosed?
Joint needle aspiration
62
What features are present in fluid aspirated by a needle of those with gout (3)?
* Needle shaped crystals, yellow
* No bacterial growth
*Known as -ve birefringent*
63
How is gout treated (3)?
* NSAIDs
* Colchicine
* Steroid injection
64
What medication can be given as a gout prophylaxis?
Allopurinol
65
How does allopurinol work?
Xanthine oxidase inhibitor
66
What does xanthine oxidase do?
Converts purines to uric acid
67
What is pseudogout?
Calcium pyrophosphate crystal deposition along joints
68
What are some risk factors for pseudo gout (5)?
* Female
* Old (70+)
* Diabetes
* Metabolic diseases
* OA
69
What is the pattern of joint involvement in pseudogout?
Often polyarticular with knee involvement
70
What features are present in pseudo gout joint aspiration (3)?
* Rhomboid shaped crystals
* No bacterial growth
*+ve birefringent*
71
How is gout managed (3)?
* NSAIDs
* Colchicine
* Steroid injection
72
What is osteoporosis?
Low bone density
73
What is osteomalacia?
Low mineralisation of bone
74
What are some risk factors for osteoporosis (9)?
* **S**teroids
* **H**yper(para)thyroidism
* **A**lcohol + smoking
* **T**hin (low BMI)
* **T**estosterone low
* **E**arly menopause (low oestrogen)
* **R**enal/ liver failure
* **E**rosive + inflammatory disease
* **D**MT1 (malabsorption)
75
What score measures the extent of osteoporosis?
T score
76
What is the T score?
Number of standard deviations below a healthy adults bone density
77
What are the ranges of normal/ abnormal T scores (3)?
* 0 to -1 = normal
* -1 to -2.5 = osteopenia
* <-2.5 = osteoporosis
*Fracture = severe osteoporosis*
78
What is the main symptom of osteoporosis?
f R a C T Ur E s
79
How is osteoporosis investigated?
DEXA scan
80
How does a DEXA scan work?
Two X ray beams, absorption by bone measured, compared to reference value
81
What is the first line drug for osteoporosis prevention?
Bisphosphinates
82
Give an example of a bisphosphinate?
Alendronate
83
How do bisphosphinates work?
Inhibit RANK-L singling (inhibit osteoclasts)
84
What other medications can be used to treat osteoporosis?
* Denosomab (monoclonal antibody)
* HRT (oestrogen)
* Raloxifene (stimulates oestrogen receptors on bone)
85
What supplement can be given to people with osteoporosis?
Calcium + vitamin D3 (e.g. adcal-D3)
86
What is systemic lupus erythematosis?
Type 3 hypersensitivity reaction involving anti-nuclear antibodies
87
How does SLE cause inflammation?
Apoptosis occurs --> inside debris exposed to immune cells (particularly nuclear antigens) --> anti-nuclear antibodies form --> immune complex deposition = inflammation
88
What are some risk factors/ causes of SLE (5)?
* Female
* Afro-carribean
* Genetics
* Younger adult (20-40)
* Sunlight exposure (more apoptosis)
89
What genes are associated with SLE (3)?
* HLA B8
* HLA DR2 or 3
90
What are the signs/ symptoms of SLE (6)?
* Butterfly rash (**malar** rash - photosensitive)
* Glomerulonephritis
* Joint pain
* Raynauds
* Vasculitis
* Serositis (mesothelium inflammation - e.g. pleurisy)
91
How is SLE diagnosed (3)?
* Bloods = high ESR (CRP often normal, anaemia
* Urine = haematuria, proteinurea (nephritic)
* Serology = ANA Abs, anti ds DNA Abs
92
How is SLE treated (3)?
* Lifestyle - avoid sun
* NSAIDs/ steroids
* DMARDs - hydroxychloroquine
93
What is anti-phospholipid syndrome?
Antiphospholipid antibodies are present in the blood leading to a hyper coagulable state
94
What are the two types of antiphospholipid syndrome?
* Primary - idiopathic
* Secondary - to another disease e.g. SLE
95
What are the symptoms/ signs of antiphospholipid syndrome (4)?
* Arterial/ venous clots
* Recurrent miscarriages
* Thrombocytopenia
* Livedo reticularis
96
What is livedo reticularis?
Purple lace like rash on skin
97
What 3 antibodies would suggest a diagnosis of aPL syndrome?
* Lupus anticoagulant
* Anticardiolipin antibodies
* Anti-beta-2 glycoprotein 1 antibodies
98
How is aPL syndrome treated?
Warfarin (INR=2-3)
99
How is aPL syndrome treated in a pregnant woman?
Aspirin + heparin
100
What is scleroderma?
Autoimmune condition characterised by excessive production of collagen (fibrosis)
101
What is systemic scleroderma?
Scleroderma that affects the whole body not just localised to the skin
102
What is the most common type of systemic scleroderma?
Limited cutaneous systemic scleroderma (CREST syndrome)
103
What are the symptoms of scleroderma (5)?
* **C**alcinosis
* **R**aynauds - digit ischemia due to vasospasm, (often brought on by cold)
* O**E**sophageal dysmotility
* **S**clerodactyly
* **T**elangiectasia
104
What is calcinosis in scleroderma?
Calcium deposits under skin (subcutaneous tissue)
105
What is sclerodactyly?
Thickening and hardening of the skin on the hands
106
What is telangiectasia?
Dilated small BVs in skin
107
What are some other signs/ symptoms of scleroderma ((other than CREST), (2)?
* Pulmonary fibrosis
* Hypertension
108
How is scleroderma diagnosed (2)?
* ANA antibodies
* Anti-centromere antibodies
These suggest scleroderma along with symptoms
109
How is scleroderma treated?
No proper treatment - steroids help along with supportive treatment
110
What is Sjogren's syndrome?
Autoimmune condition affecting exocrine glands --> dry eyes + mouth
111
What are some causes/ risk factors of Sjogren's (3)?
* Secondary Sjogren's (e.g. SLE)
* Female
* Family history/ genetics
112
Which genes have been linked to Sjogren's (2)?
* HLA-B8
* HLA-DR3
113
What are the symptoms of Sjogren's (3)?
* Dry eyes, mouth, vagina
* Conjunctivitis
* Dental cavities
114
How is **S**jogren's syndrome diagnosed?
* Serology
* **S**chirmer test
115
What antibodies are present in Sjogren's syndrome (2)?
* Anti-RO
* Anti-LA (more specific to SLE)
116
What is schirmer test?
Filter paper inserted into eye, length tears travel along paper determines "wetness" of eye
117
How is Sjogren's syndrome treated?
* Artificial tears/ saliva
* Hydroxychloroquine (may be given)
118
What does Sjogren's syndrome increase the risk of?
Lymphoma
119
What is polymyositis?
Autoimmune inflammation + necrosis of the muscle
120
What is polymyositis called when there is skin/ connective tissue involvement?
Dermatomyositis
121
What are some risk factors/ causes of polymyositis?
* Female
* Genetics
122
Which genes have been linked to polymyositis?
* HLA-B8
* HLA-DR3
123
What is the presentation of polymyositis?
Symmetrical muscle waisting around shoulders and pelvic girdle (hard to stand up + put hands on head)
124
What dermatological changes are seen in those with dermatomyositis (3)?
* Grotten lesions
* Photosensitive erythematous rash on back + shoulders
* Heliotrope
125
What are Grotten lesions seen in dermatomyositis?
Scales on knuckles, elbows and knees
126
What is a heliotrope seen in dermatomyositis?
Purple eyelids
127
What Abs are present in poly/dermatomyositis (2)?
* Anti-Jo-1
* Anti-Mi-2 (dermatomyositis only)
128
How can polymyositis be diagnosed?
Muscle biopsy = necrosis
129
What may be elevated in the blood in those with polymyositis?
Creatine kinase - enzyme found in muscle, released when inflamed
130
How is polymyositis treated?
Corticosteroid (prednisolone)
131
What is fibromyalgia?
Functional pain disorder, chronic + widespread pain in muscles and skin
132
What are some risk factors/ causes of fibromyalgia (2)?
* Female
* Depression/ stress/ trauma
133
What chemical is the main modulator/ neurotransmitter of pain?
Substance P
134
What chemicals dampen pain reception (2)?
* Serotonin
* Noradrenaline
135
What is thought may cause fibromyalgia?
Imbalances between substance P and serotonin/ NAd
136
What are the signs/ symptoms of fibromyalgia (3)?
* Stressed/ depressed
* Pain + stiffness over all body
* Sleep disturbances
137
How is fibromyalgia diagnosed?
* Exclusion of other conditions (no ANA, high ESR/ CRP)
* Pain in multiple places/ when palpated
138
How is fibromyalgia treated?
* Antidepressants (TCAs e.g. amitriptyline)
* CBT
139
What is a differential diagnosis for fibromyalgia?
Polymyalgia rheumatica
140
What is polymyalgia rheumatica?
Unknown cause inflammatory disorder related to vasculitis
141
What are the symptoms of polymyalgia rheumatica?
Muscle/ joint pain in shoulder and hip - worse with movement
142
How is polymyalgia rheumatica diagnosed (2)?
* High ESR/CRP
* Exclusion of other conditions
143
How is polymyalgia rheumatica treated?
Steroids (prednisolone)
144
What is vasculitis?
Inflammation of blood vessels
145
What can cause vasculitis/ how can it occur (2)?
* Direct attack on BV wall by immune cells (due to molecular mimicry)
* Indirect damage to endothelium/ BV wall due to nearby cells being attacked
146
What are the three types of vasculitis?
* Large vessel
* Medium vessel
* Small vessel
147
What are 3 general symptoms of vasculitis due to the inflammatory response?
* Fever
* Weight loss
* Fatigue
148
What are two types of large vessel vasculitis?
* Giant cell arteritis
* Takayatsu arteritis
149
What is giant cell arteritis?
Inflammation of large arteries (thought to be autoimmune)
150
Which arteries are commonly affected by GCA (3)?
Branches of external carotid:
* Temporal artery
* Ophthalmic artery
* Facial artery (supplies jaw)
151
What are the symptoms of GCA (3)?
* Unilateral temporal headache/ scalp tenderness
* Jaw pain while chewing (claudication)
* Change in vision
152
What is a complication of GCA?
Blidness
153
How is GCA investigated (2)?
* High ESR/ CRP
* Temporal artery biopsy
154
What would be present in temporal artery biopsy?
Granulomatous inflammation of intima + media (skip lesions - therefore take long biopsy)
155
How is GCA treated?
Steroids - Prednisolone
156
What is GCA strongly associated with?
Polymyalgia rheumatica
157
What are three types of medium vessel vasculitis?
* Polyarteritis nodosa
* Buergers disease
* Kawasaki disease
158
What is polyarteritis nodosa associated with?
**Hep B**/ HIV infection
159
What are some symptoms/ signs of polyarteritis nodosa (4)?
* Mononeuritis multiplex (type of peripheral neuropathy that affects 2+ nerves)
* CKD/AKI (pre renal) due to narrowing of arteries
* GI bleeds
* Skin nodules/ haemorrhages
160
How is polyarteritis nodosa diagnosed?
* CT angiogram = beads on string (micro aneurisms)
161
How is polyarteritis nodosa treated (2)?
* Steroids
* Treat htn
162
What does Buerger's disease commonly cause/ affect?
Peripheral skin necrosis
163
Who is typically affected by Buerger's disease?
Male smoker 20-40
164
Who is typically affected by Kawasaki disease?
Young children <5
165
What does Kawasaki disease cause?
Coronary artery aneurism
166
What are 3 small vessel vasculitis?
* Granulomatosis with polyangitis
* Eosinophilic granulomatosis with polyangitis
* Henoch Schonlein purpura
167
What is Henoch Schonlein purpura?
An IgA vasculitis (basically systemic IgA nephropathy)
168
Where does granulomatosis with polyangitis commonly affect (2)?
* Repiratory tract
* Kidneys
169
What are 4 seronegative spondyloarthropathies?
* Ankylosing spondylitis
* Psoriatic arthritis
* Reactive arthritis
* Enteric arthritis
170
What do seronegative arthropathies have in common (2)?
* Affect the axial skeleton
* Seronegative for RF and ANA
171
What are the general features of spondyloarthropathies (9)?
* **S**ausage digit (dactylics)
* **P**soriasis
* **I**nflammatory back pain
* **N**SAIDs good reponse
* **E**nthesitis
* **A**rthritis
* **C**rohns/UC
* **H**LA-B27
* **E**ye (uveitis)
172
What is enthesitis?
Inflammation of entheses (sites where tendons/ ligaments insert onto bone)
173
What happens in ankylosing spondylitis?
New bone growth between vertebrae stiffens the spine
174
What is the name of the vertical new abnormal bony growth?
Syndesmophytes
175
What are the signs/ symptoms of ankylosing spondylitis (5)?
* Anterior uveitis
* Enthesitis (plantar fasciitis/ achilles tendonitis)
* Dactylitis
* Kyphosis + decreased lordosis (inward curving above bum)
* Progressive back stiffness, worse in morning
176
What is Schober test?
Measures amount of spine flexion; two points on back marked, then measured when spine flexed
177
How is ankylosing spondylitis investigated (3)?
* Xray/ MRI
* ESR/CRP high
* HLA-B27 +ve
178
What changes are seen in xray of those with ankylosing spondylitis (3)?
"Bamboo spine":
* Squared vertebral bodies
* Syndesmophytes
* Sacroilitis (inflammation of sacroiliac joint)
179
How is ankylosing spondylitis treated?
* NSAIDs (+ steroid injections)
* TNF alpha blockers
180
Give 2 examples of TNF alpha blockers?
* Infliximab
* Etanercept
181
How does etanercept work?
Soluble TNF alpha receptor --> binds TNF alpha preventing it having effects
182
Which joints does psoriatic arthritis usually affect?
Hands wrists and feet
183
Which joints does psoriatic spondylitis (specific type / pattern of psoriatic arthritis) affect?
Lumbar spine region
184
What are some symptoms/ signs of psoriatic arthritis (5)?
* Dactylitis
* Enthesitis
* Onycholysis (separation of nail from bed)
* Psoriatic rash (often under nails)
* Joint pain
185
What is a severe form of psoriatic arthritis known as?
Arthritis mutilans
186
What percentage of psoriatic arthritis is mutilans?
5 %
187
What happens in arthritis mutilans?
Osteolysis of phalanxes --> telescoping of digits
188
What features are seen on an x-ray of psoriatic arthritis (5)?
* Periostitis
* Ankylosis (joining of bones)
* Dactylitis
* Osteolysis
* Pencil in a cup appearance
189
How is psoriatic arthritis treated?
* NSAIDs (+ steroid injections)
* 1st = methotrixate
* Anti TNF
* IL 12/ 23 inhibitor
190
Give an example of an IL12/23 inhibitor?
Ustekinumab
191
What is reactive arthritis?
Sterile inflammation of joints + tendons reacting to distant infection
192
What infections commonly cause reactive arthritis (2)?
* Gastroenteritis
* STIs (e.g. chlamydia, gonorrhoea)
193
What are the main 3 symptoms of reactive arthritis?
* Cant See (anterior uveitis = iritis)
* Cant Pee (urethritis)
* Cant climb a tree (arthritis of knee joint - commonly)
194
How is reactive arthritis investigated (2)?
* Joint aspirate
* identification of infection (sexual health review, stool culture)
195
What would a joint aspirate show in reactive arthritis (2)?
* Sterile
* -ve for crystal arthropathy
196
How is reactive arthritis treated?
* NSAIDs + steroids
* If chronic = DMARD/ anti-TNF
197
What is enteric arthritis?
Arthritis that occurs with IBD
198
Which joints are commonly affected in enteric arthritis?
Asymetric lower limb arthritis
199
How many people with IBD get enteric arthritis?
1 in 5
200
What is septic arthritis?
Direct infection of a joint
201
Is a septic joint serious?
Yes its a medical emergency
202
What are the signs/ symptoms of septic arthritis (3)?
* Red, hot swollen joint
* Extremely painful
* Pyrexia
203
Which organism most commonly causes a septic joint?
Staph aureus
204
Which other bacteria commonly infect joints (4)?
* Strep A (strep pyogenes)
* H. influenzae
* E. coli
* N. gonorrhoea
205
What are some risk factors for septic arthritis (4)?
* IVDU
* Prosthetic joint
* Inflammatory joint disease (e.g. RA)
* Immunosuppression
206
How is septic arthritis investigated?
Joint aspirate (microscopy and sensitivity)
207
Which antibiotics are commonly used for septic joints (2)?
* Flucloxocillin/ vancomycin
plus ...
* Rifampicin
208
What adjustments to medication should be done if someone is found to have a septic joint (2)?
* Double steroid dose (sick day rules)
* Stop DMARDs
209
What is osteomyelitis?
Inflammation of bone/ bone marrow
210
What are the three ways an infection can spread to bone?
* Haematogenous (through blood, most common in children)
* Local spread (most common in adults)
* Direct inoculation
211
What is the most common organism to cause osteomyelitis?
Staph aureus (90%)
212
Which organism are **s**ickle cell diseased patients most at risk of infecting their bone?
**S**almonella
213
What are some risk factors for developing osteomyelitis (5)?
* IVDU
* Immunosuppression
* Inflammatory arthritis
* PVD/ diabetes
* Trauma/ surgery
214
What is a bone change seen acutely with osteomyelitis?
Inflammation + oedema
215
What are 2 chronic bone changes seen in chronic osteomyelitis?
* Sequestra
* Involucrum
216
What is sequestra?
A piece of bone separated from healthy bone
217
What is involucrum?
Bone growth around sequestra for support
218
What are the signs/ symptoms of osteomyelitis (3)?
* Red, hot, swollen bone
* Dull pain in bone
* Fever
219
What is a differential diagnosis for osteomyelitis?
Charcot joint = neuropathy (damage to sensory nerves) --> lack of sensation in foot --> fractures + damage goes unnoticed
220
How is osteomyelitis investigated?
* X-ray
* MRI
* Bone marrow biopsy
221
What change may be seen on x-ray?
Localised osteopenia (thinning of bone)
222
How is osteomyelitis treated?
* Surgical debridement
* Antibiotics
223
Which antibiotics are commonly used for osteomyelitis (2)?
Flucloxacillin + rifampicin
224
What are 5 tumours that can spread to bone?
* **B**reast
* **L**ung
* **T**hyroid
* **K**idney
* **P**rostate
**BLT KP**
225
What sort of bone lesions do breast and lung cancer cause?
Osteolytic (bone breakdown)
226
What sort of bone lesions does prostate cancer cause?
Osteosclerotic (bone building)
227
What are 4 types of primary bone cancer?
* Osteosarcoma
* Ewing sarcoma
* Chondrosarcoma
* Fibrosarcoma
228
What is the most common primary bone cancer?
Osteosarcoma
229
What cell do osteosarcoma originate from?
Mesenchymal stem cells or osteoblasts
230
What cell does a Ewing sarcoma originate from?
Mesenchymal stem cell
231
What do chondrosarcoma affect?
Cartilage cancer (chondroblasts)
232
What age do these bone cancers usually affect?
Children (15 years)
233
What are some symptoms/ signs of bone cancer (4)?
* Bone pain worse at night
* Fractures
* Fever
* Weight loss
234
How is bone cancer investigated (3)?
* X-ray/ bone scan
* Bloods = high ALP, hypercalcaemia
* Bone biopsy
235
What does high alkaline phosphatase suggest generally?
Bone or liver disease
236
How is bone cancer treated?
Chemo/radio therapy
237
What drug can be given to protect bone?
Bisphosphanates
238
What is osteomalacia?
Defective bone mineralisation --> soft bones
239
What is osteomalacia in childhood before growth plate (epiphyseal) fusion known as?
Rickets
240
What are the effects of activated vitamin D3 in the body (3)?
* Increase bone resorption
* Increase absorption from intestines
* Increase reabsorption in kidneys (PCT)
241
Describe the pathway of vit D3 activation?
**7-dehydrocholestrol** *+ UV light* --> **Cholecalciferol** (Vit D3) *in liver* --> **25-hydroxy vit D3** *in kidney* --> **1,25-dihydroxy vit D3**
242
What can cause osteomalacia (4)?
* Vit D deficiency
* Renal disease (can't activate D3)
* Liver failure (can't activate vit D)
* Drugs (interfere with CYP450)
243
What type of parathyroidism can vit D deficiency cause?
Secondary hyperparathyroidism
244
What are some symptoms/ signs of osteomalacia (3)?
* Fractures
* Bone pain
* Muscle weakness/aches
245
What is an extra sign/ symptom of rickets?
Skeletal deformities
246
How is osteomalacia investigated?
* Bloods
* X-ray
* BM biopsy (diagnostic)
247
What would bloods show in osteomalacia?
* Hypocalcaemia
* High PTH
* Low 25-hydroxy vitamin D3 (best marker)
248
How is osteomalacia treated?
Calcitriol + increase dietary intake
249
What is Paget's disease?
Disorder of remodelling of bone - imbalanced osteoclasts/ blast activity
250
What are the symptoms/ signs of Paget's disease (3)?
* Bone pain
* Bone changes (skull + bowed tibia)
* Neurological (CN compression by skull)
251
How is Paget's disease diagnosed (2)?
* High ALP
* X-ray changes = cotton wool skull
252
How is Paget's disease treated (2)?
* Bisphosphinates
* NSAIDs
253
How is Marfan's syndrome inherited?
Autosomal dominant
254
What gene mutation is linked to Marfan's syndrome?
FBN-1 mutation
255
What does an FBN-1 mutation in Marfan's disease cause to be produced abnormally?
Decrease in connective tissue (fibrillin) strength
256
What are the symptoms of Marfan's syndrome (3)?
* Tall + thin, long fingers, sternum caved in or out (pectus excavatum/ carinatum)
* Aortic regurgitation, dilated base
* Lense dislocation
257
How is Marfan's syndrome diagnosed (2)?
* Ghent criteria
* FBN-1 mutation
258
How is EDS inherited?
Autosomal dominant
259
What do mutations affect the production of in EDS?
Various types of collagen
260
What are the symptoms of EDS (3)?
*Depends on type*
* Joint hyper mobility
* Vascular involvement (e.g. mitral regurg)
* Stretchy skin
261
How is EDS diagnosed (2)?
* Clinical observations
* Genetic mutations
262
What is lumbar spondylosis?
Age related degeneration - thinning of vertebral discs
263
Where does vertebral disc thinning most commonly occur (2)?
* L4/5
* L5/S1
264
How is lumbar spondylosis investigated?
X-ray/ MRI
265
How is lumbar spondylosis treated (3)?
* Analgesia
* Physiotherapy
* Surgery (if severe or complications)
