Pathology Flashcards
What surrounds the entire skeletal muscle?
epimysium
What surrounds the bundles of skeletal muscle fibres?
perimysium
What surrounds the individual muscle fibres?
endomysium
What are the 3 main indications for muscle biopsy?
- evidence of muscle disease (eg weakness, muscle symptoms, elevated CK)
- presence of neuropathy
- presence of vascular disorder (vasculitis)
what is fasciculation?
uncontrolled twitching of muscle
When CK level is higher than normal, in the ‘low’ classification, what type of disorder does this indicate?
neurogenic disorder
when CK level is higher than normal, in the ‘intermediate’ classification, what type of disorder does this indicate?
inflammatory myopathy
when CK level is higher than normal, in the ‘high’ classification, what type of disorder does this mean?
muscular dystrophy
what are the 5 main groups of myopathies?
- muscular dystrophies
- inflammatory myopathies
- congenital myopathies
- secondary myopathies
- metabolic myopathies
Why are ring fibres sometimes formed during muscle dystrophy?
condensation of the cytoplasm
Why can there be enlarged nuclei and increased number of nuclei during muscle dystrophy?
due to attempted regeneration co-existing with the atrophy
What type of inheritance is Duchenne’s Muscular Dystrophy (DMD)?
x-linked
What muscles does Duchenne’s Muscular Dystrophy (DMD) mainly affect?
muscles of the pelvic girdle
What type of inheritance is Becker’s Muscular Dystrophy (BMD)?
x-linked
What muscles does Becker’s Muscular Dystrophy (BMD) mainly affect?
muscles of the pelvic girdle
When is the onset of Duchenne’s Muscular Dystrophy (DMD)?
2 - 4 years old
What is the life expectancy of someone with Duchenne’s Muscular Dystrophy (DMD)?
20
What happens to the calves of patients with Duchenne’s Muscular Dystrophy (DMD)?
pseudohypertrophy
What mutation causes Duchenne’s Muscular Dystrophy (DMD)?
Mutations in dystrophin gene on long arm of chromosome X
What causes the different severities of Duchenne’s Muscular Dystrophy (DMD)?
mutations resulting in frame shift- severe
mutations resulting in altered binding- moderate to severe
mutations in middle rod- mild (Beckers)
What does the mutation in the dystrophin gene in Duchenne’s Muscular Dystrophy cause? (in terms of basement membrane and actin and Ca++ entry)
changes anchorage of actin cytoskeleton to basement membrane
uncontrolled Ca++ entry into cells
What does the change in anchorage of actin cytoskeleton to basement membrane in Duchenne’s Muscular Dystrophy do to the muscle fibres?
makes them more liable to tear
What gene is mutated in Becker’s Muscular Dystrophy (BMD)?
dystrophin
variant of DMD
compare disease progress of Beckers to Duchennes?
Beckers progression is much slower
What is myotonia?
inability to relax voluntary muscles after vigorous effort
What are inflammatory myopathies?
primary inflammation of muscle
What is polymyositis?
a chronic inflammatory myopathy
autoimmune
compare inflammatory myopathies to muscular dystrophies in terms of pain?
no pain in dystrophies, pain is present in inflammatory myopahties
What autoimmune proteins are found in polymyositis?
antibodies to muscle antigens
what type of lymphocytes are mainly involved in polymyositis?
cytotoxic lympocytes
what is dermatomyositis?
polymyositis with skin changes
a chronic inflammatory myopathy
autoimmune
What type of skin changes are present in dermatomyositis?
upper body erythema
swelling of eyelids with purple discolouration
what is the aetiology of polymyositis?
unknown
what is the aetiology of dermatomyositis?
unknown
but 10% associated with underlying malignancy
what type of lymphocytes are mainly involved in dermatomyositis?
helper T cells
compare the histology of polymyositis and dermatomyositis?
no histological differences, need to use other tests eg fluorescent staining
What are neurogenic disorders of muscle?
stereotyped changes after nerve damage with subsequent re-innervation
(pathology in motor neuron not muscle)
What is motor neurone disease?
progressive degeneration of anterior horn cells causing denervation atrophy, fasciculation and weakness
What type of inheritance is spinal muscular atrophy?
autosomal recessive
compare motor neurone disease to spinal muscular atrophy?
same pathology but different aetiology
MND is sporadic
spinal muscular atrophy is inherited
What is myasthenia gravis?
an autoimmune disease causing weakness, proptosis, fatigue and dysphagia
What is proptosis?
bulging of the eye
who commonly gets myasthenia gravis?
women between 20 and 40
what are the main causes of myasthenia gravis?
thymoma or thymic hyperplasia
What antibodies are produces in myasthenia gravis?
antibodies to ACh recepto in post-synaptic cleft
What is rhabdomyolysis?
breakdown of skeletal muscle
what are the 4 major side effects of rhabdomyolysis?
- myoglobinuria (which causes acute renal failure)
- hyperkalaemia
- necrosis
- shock
what are the main causes of rhabdomyolysis?
massive trauma
pressure induced
mushroom poisoning
drug side effects
What is the main management of connective tissue disorders?
anti-inflammatory/immunosuppression therapy
what antibodies are produces in SLE?
antinuclear antibodies (ANAs), anti-ds DNA, anti- Ro, anti-RNP
what skin effects of SLE can be seen?
butterly rash
discoid lupus erythematosus
what are the effects of SLE on the joints?
arthralgia
what are the effects of SLE on the kidneys?
glomerulonephritis
what are the effects of SLE on the central nervous system?
psychiatric symptoms
focal neurological symptoms
what are the effects of SLE on the cardiovascular system?
pericarditis
myocarditis
necrotising vasculitis
what are the effects of SLE on the immune system?
lymphadenopathy
splenomegaly
what are the effects of SLE on the lungs?
pleuritis
pleural effusions
what are the effects of SLE on haematological system?
anaemia
leukopenia
thrombophilia
what hypersensitivity reaction is SLE?
type 3 (visceral lesions)- deposition of IgG type 2 (haematological effects)- lysis of RBCs
What is polyarteritis nodosa?
inflammation and fibrinoid necrosis of small/medium arteries
what is the aetiology of polyarteritis nodosa?
unknown
small association with Hep B carriage
where is the pain and stiffness most present in polymyalgia rheumatica?
shoulder and pelvid girdle
no muscle weakness
what is the treatment for polymyalgia rheumatica?
steroids
prednisolone 15mg for 18 months
who are the people most likely to get polymyalgia rheumatica?
elderly women
when is pain and stiffness usually at its worst in polymyalgia rheumatica?
morning
what is termporal arteritis?
giant cell arteritis of the temporal artery (vasculitis)
what is scleroderma?
excessive fibrosis of organs and tissues due to excessive collagen production
scleroderma is associated with CREST syndrome, what is this?
calcinosis raynauds oesophageal dysfunction sclerodactyly telangectasia
what is sclerodactyly?
thickening of skin on fingers and toes
what is telangectasia?
dilation of small capillaries so they appear like red or purple clusters on teh skin
what are the 4 main causes of death for patients with scleroderma?
- renal failure (secondary to malignant hypertension)
- severe respiratory compromise
- cor pulmonale
- cardiac failure/arrhymias (secondary to myocardial fibrosis)
What is the name of a cartilage capped bony projection arising on the external surface of the bone which contains a marrow cavity continuous with that of the underlying bone?
osteochondroma
exostosis
who tends to develop osteochondroma?
males and females under 20
where do osteochondromas tend to develop?
epiphyses of long bones
what is the presumed cell of origin of osteochondromas?
chondrocytes
are osteochondromas benign or malignant?
benign
why can osteochondromas be surgically removed even if they are benign?
can sometimes cause pain or irritation
or if it’s growing in size (may become malignant)
what is a chondroma?
benign hyaline cartilage tumour
where do chondromas arise?
medullary cavity of bones of hands and feet
usually at metaphysis
who tends to get chondromas?
young adults
men > women
What is Mafucci’s syndrome?
multiple enchondromas associated with multiple haemangiomas
premalignant
What is Ollier’s Disease?
a rare developmental disorder involving multiple enchodromas of one extremity (usually unilateral)
(premalignant)
what type of inheritance is Ollier’s disease
not hereditary or familial
compare maffucci’s syndome to ollier’s disease in terms of malignant transformation risk?
Maffucci’s syndrome has a greater malignant transformation risk than Ollier’s disease
What is the name of a benign osteoblastic tumour composed of a central core of vascular osteoid tissue (immature) and peripheral zone of sclerotic bone?
osteoid osteoma
who tends to get osteoid osteomas?
children and young adults
M > F
where are osteoid osteomas found?
poximal femur,
diaphysis of long bones,
vertebrae
what is the distinct clinical picture of a person with an osteoid osteoma?
dull pain which is worse at night
pain relieved by aspirin or NSAIDs
what is the name of a benign cartilage tumour arising in bone?
chondroblastoma
where are chondroblastomas found?
epiphysis of long bones
who tends to get chondroblastomas?
20 -30 year olds
what is the treatment for a chondroblastoma?
biopsy and curettage
plus adjuvant liquid nitrogen
who tends to get giant cell tumours?
25-40 year olds
F > M
where is the site of giant cell tumours?
metaphsis and epiphysis long bones, often around the knee and distal radius
can occur in pelvis and spine
can involve subchondral bone and joint
what is the presumed cell of origin of a giant cell tumour?
osteoclast
is a giant cell tumour benign or malignant?
benign
but locally aggressve
what is the treatment for a giant cell tumour?
intralesional excision
very aggressive lesions may need joint replacement
what happens to giant cell tumours when they are radiated?
undergo malignant transformation
what is the name of a benign, self-limited tumour that produces osteoid and bone?
osteoblastoma
are osteoblastomas benign or malignant?
benign
but locally aggressive