Haem- other Flashcards
what is pancytopenia
a deficiency of blood cells of all lineages (generally excludes lymphocytes)
is pancytopenia a diagnosis?
NO- reflects a diagnosis
causes of pancytopenia
reduced production
OR
increase destruction
causes of reduced production of blood cells
bone marrow failure- acquired/inherited/secondary
Inherited marrow failure syndrome- Fanconi’s anaemia CF
short stature
skin pigment abnormalities
hypogenitillia
endocrinopathies
GI
CVS
renal
haematological
skin change in Fanconi’s anaemia
cafe au lait spots- flat, light to dark brown patches on the skin
what is idiopathic aplastic anaemia
autoimmune attack against haemopoioetic stem cells
what are myelodysplastic syndromes
increased apoptosis of progenitor and mature cells, propensity for evolution into AML
secondary bone marrow failure- drug induced examples
chemotherapy
alcohol
azathioprine
methotrexate
causes of increased destruction of blood cells
hypersplenism
causes of hypersplenism
splenic congestion- portal hypertension
systemic diseases- RA
haematological diseases- splenic lymphoma
what is amyloidosis
disorder characterised by extracellular deposits of misfolded proteins
what is the average age of diagnosed patients with amyloidosis
65 years
fewer than 10% of patients are under 50
most common type of systemic amyloidosis in developed countries
AL amyloidosis (light chain)
what causes AL amyloidosis
production of abnormal immunoglobulin light chains from plasma cells- light cells enter bloodstream and cause amyloid deposits
what organs are commonly affected in AL amyloidosis
heart
bowel
skin
nerves
kidneys
what is AA amyloidosis associated with
systemic inflammation
what protein is overproduced in AA amyloidosis
serum amyloid A protein, an acute phase protein
What percentage of patients with chronic inflammatory or infectious conditions develop AA amyloidosis?
5%
what are some inflammatory diseases associated with AA amyloidosis
RA
IBD
psoriasis
what are some chronic infections associated with AA amyloidosis
TB
osteomyelitis
bronchiectasis
what organs are most commonly affected in AA amyloidosis
liver
spleen
kidneys
adrenals
most common presenting symptoms of amyloidosis
weakness
dyspnoea
what is the most frequently affected organ system in amyloidosis
renal system (kidneys)
how often is the heart involved in amyloidosis at diagnosis
more than 50% of patients
what heart condition does amyloidosis commonly cause
restrictive cardiomyopathy
what nervous system issues may be seen in amyloidosis
peripheral neuropathy
autonomic neuropathy
what are some hepatosplenic manifestations of amyloidosis
hepatomegaly
splenomegaly
deranged liver function tests
what GI symptom is associated with amyloidosis
malabsorption
what is the gold standard test for confirming amyloidosis
organ biopsy (commonly renal)
what special stain is used in biopsy to detect amyloid deposits
congo red stain
what is the characterised appearance of amyloid under polarised light
green apple befringence
what biopsy sites can be used if renal biopsy is not possible/inconclusive
abdominal fat pad
rectal biopsy
management of AL amyloidosis
immunosuppression- steroids, chemo, stem cell transplant
main adverse prognostic factor of amyloidosis
presence and severity of amyloid heart disease
