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What is amyloidosis?

group of conditions with extracellular deposition amyloid, can be localised or systemic leading to organ failure and death


How is amyloid formed?

from abnormally folded proteins that collect together and don't break down as easily as normal proteins, causing a build up


How common is amyloidosis?

rare, only 600 cases per year in UK, mainly older people


Symptoms of amyloidosis?

depend on which organs are affected:
kidneys - kidney failure, oedema, tiredness, weakness, loss of appetite
heart - heart failure, sob, oedema
bone marrow - multiple myeloma
foamy urine


Diagnosis of amyloidosis?

Congo red staining on biopsy of affected tissues (rectal biopsy if systemic), light chain assay, amyloid deposits stain red and show green fluorescence in polarized light, scintigraphy with 123I-labelled serum amyloid component, the protein coats amyloid deposits in your body highlighting the areas most affected


What is the most common form of amyloidosis and how does it occur?

AL - from misfolded monoclonal Ig light chains so plasma cells are producing too many defective light chain proteins


Where does AL most commonly affect?

kindeys, heart, liver, Gi tract, nervous system


What causes AA (secondary amyloidosis)?

increased levels of circulating serum amyloid A protein as a response to chronic infection and inflammation


Where does AA usually affect?

kidneys and liver


What causes ATTR?

amyloid originates from abnormal transthyretin protein in the liver (acquired or autosomal dominant)


Where does ATTR most commonly affect?

nervous system, heart and kidneys


Where does senile systemic amyloidosis result from?

TTR amyloid building up in the hearts of the elderly (could be caused by genetic or age)


What is localised amyloidosis made up of?

light chain proteins, but the plasma cell are in the affected tissue not the bone marrow unlike in AL


How does AL present?

cardiac failure, nephrotic syndrome, carpal tunnel syndrome, macroglossia


What disease is AL associated with?

myeloma, Waldernstroms macroglobulinaemia, non Hodgkin's lymphoma


How does ATTR present?

neuropathy and cardiomyopathy


Treatment of AL?

prevent further light chain production, treat organ failure, diuretics, medications, chemo to damage abnormal bone marrow cells, inhibit production of abnormal proteins


Treatment of ATTR?

liver transplant


How does AA present?

proteinuria and hepatosplenomegaly (treat underlying cause)


Prognosis of amyloidosis?

1-2 year survival


What are breast lobules?

milk producing glands


What are breasts made up of?

lobules and ducts, surrounding by glandular, fibrous supporting tissue and fatty tissue


Where do fibro adenomas develop form?

a lobule and then the glandular tissue and ducts grow over the lobule and form a solid lump


How cancerous are fibro adenomas?

They are benign and don't increase the risk of developing breast cancer


How do fibro adenomas feel?

solid, smooth, rubbery lump which moves easily under the skin, usually painless but can be tender, and are normally 1-3cm but can be giant if 5cm, can have more than one (they can change size and disappear or get bigger during pregnancy and in teenage years)


Who is most likely to acquire a fibro adenoma?

most in young women due to increased sensitivity to oestrogen


What is the triple breast examination?

breast examination, mammogram and fine needle aspiration/core biopsy


Who is more likely to have an US than a mammogram?

if you are under 40 as women's breast tissue can be dense making the x ray less clear so harder to see breast conditions


Treatment of fibro adenoma?

vacuum assisted excision biopsy if it becomes bigger or painful, can leave a slight dent in the breast


What is cystic disease?

a benign condition where women have painful breast lumps