Pathology Flashcards
Describe connective tissue diseases
Autoimmune conditions - autoantibodies present
Starts an inflammatory process leading to symptoms
May be associated with hypersensitivity
Affects 1-2% of the population
How do connective tissue diseases present
Often with MSK symptoms
Many also come with systemic symptoms
What is rheumatoid arthritis
Inflammation of the joint caused by rheumatoid factor and an autoantibody against Fc IgG
What happens in the acute phase of RA
Pannus formation - granular tissue forms on articular surfaces
Hyperplastic and reactive synovium
How is cartilage affected by RA
It is destroyed by the inflammatory process
This leads to a loss of joint space
What happens in chronic phase of RA
Fibrosis occurs
This can lead to joint deformity
What is SLE
Systemic Lupus Erythema
A systemic autoimmune condition
What is the cause of SLE
Autoantibodies are formed that attack the structural parts of DNA
Most specific is anti-double stranded DNA but may be other types (anti-RO etc)
What are the acute features of SLE
Oedema
Fibrin
Reactive features in the synovial cells
How is uric acid formed in the body
The end product of purine synthesis
So formed in the production of adenine and guanine - during DNA synthesis
What can lead to increased production of uric acid
Idiopathic - unknown enzyme defect Know defect - LN syndrome Increased cell turnover - e.g. psoriasis or cancer Alcohol High dietary purine - red meat etc
What can cause reduced excretion of uric acid
Drug side effects
Common with thiazide diuretics
Hypothyroidism
Chronic renal impairment
What causes gout
Precipitation of urate crystals, usually in joints
This elicits an acute inflammatory response leading to symptoms
What is gouty tophus
Deposition of urate crystals in the soft tissues
The presentation of gout is dependant on the level of urate in the body - true or false
False
Not necessarily related to level, more dependant on the solubility of the crystals
What are some complications of gout
Can cause secondary degenerative changes in the joint
Deposition in soft tissues (gouty tophus)
Can lead to renal disease
How would you diagnose gout
Take an aspirate of joint fluid and examine under a cross polarized light to look for the negatively bifrigent needle shaped crystals
Can also look for raised inflammatory markers and serum uric acid - not specific enough
Link to renal impairment - kidney tests
What causes pseudogout
Deposition of calcium pyrophosphate crystals in the joint
May be associated with hypercalcemia, haemochromatosis, hyperthyroidism etc
Age also contributes
Where does pseudogout usually affect
older individuals
in the large joints
Affects fibrocartilage
What are the symptoms of pseudogout
May present with joint pain
Usually asymptomatic and is an incidental finding on x-ray
Will have raise in inflammatory markers
what do calcium pyrophosphate crystals look like
Rhomboid shaped
Thicker and bigger than urate
What is Paget’s disease of bone
Caused by abnormality of bone turnover
Increase in osteoclastic activity
Get more bone but not normally structured - often weaker but thicker
Can affect all bones
What can cause Paget’s
Unknown
May have genetic component
Can be caused by viral infection
How does Paget’s present
Pain - due to fracture or nerve compression
Enlargement of bones leading to abnormal shape
Increased metabolism – heat in area
What are some complications of Paget’s
Heart failure - due to high metabolic requirement
Increased risk of malignancy
What is Osteomalacia
Abnormal vitamin D metabolism
Bones become weaker
Causes rickets in children
What LFT results may suggest Paget’s
Raised Alk Phos
Everything else normal
What can a pathological fracture be a sign of
Underlying bone pathology
Osteoporosis is most common cause
Potentially malignancy
What is a pathological fracture
When a fracture occurs with a non-severe trauma
So injury is out of proportion with event
Describe the initial phases of bone repair after a break
Haematoma – fibrin mesh
Influx of inflammatory cells
Cytokine release
After 1 week a callus forms and remodelling begins
How does bone heal after the initial phase
Woven bone starts to be deposited next to the cortical bone
Some cartilage is deposited at the break site which later undergoes ossification
Woven bone is remodelled to return bone to normal
Why might healing of a bone be delayed
Poor blood supply and poor nutrition.
Too much movement, Too great a distance
Which cancers commonly metastasise to bone
Lung
Kidney
Breast
Prostate
What is avascular necrosis
Infarction of bone
Leads to necrosis of tissue
How does avascular necrosis present
Usually asymptomatic
May lead to hip replacement once joint is severely damaged
What can cause avascular necrosis
Trauma Alcohol Steroid injections Sickle cell Infection
What can cause degenerative diseases like osteoarthritis
Mechanical injury
Wear and tear with age
Secondary to previous joint issues
What joint changes occur in degenerative disease
Small cracks in cartilage
Fibrillation
Cartilage is completely worn away and surface of bone becomes polished
Cysts form in the bone due to leaking synovial fluid
Bone remodelling leads to abnormal outgrowths - osteophytes
What genetic investigation can be used to diagnose MSK lesions
Karyotyping - gives overview of chromosome structure
– good for large, more obvious mutations
FISH - detects more subtle, specific mutations
- used for known translocations
How does immunohistochemistry work
You place a pigment or florescent tag onto an antibody for a specific protein
If the protein is present in the cell type it will show up
What are ganglion cysts
Caused by degenerative change within connective tissue
Presents as a lump that does not go away
In peripheral areas, near a joint capsule or tendon sheath
Common on wrist
Ganglion cysts are not true cysts - true or false
True
The do not have an epithelial lining
What are superficial fibromatoses
Due to proliferation of fibroconnective tissue
Common condition
Occurs in the hand, feet and penis (rarely)
What is dupuytren’s contracture associated with
Alcohol
Anticonvulsants
What is Dupuytren’s contracture
Superficial fibromatosis in the hand
Caused one finger to become drawn to palm - excess tissue tightens
Usually idiopathic
What is deep fibromatosis
Deep seated fibromatosis that occurs in more visceral areas
Often in the mesentery or pelvis
Comes with increased risk of colon cancer as associated with FAP