Amyloidosis Flashcards
Amyloid
A misfolded protein that deposits in the extracellular space, thereby damaging tissues
Characteristics of an Amyloid
Beta pleated sheet configuration
Congo red staining and apple green birefringence when viewed under polarized light
Primary Amyloidosis
Systemic deposition of AL amyloid which is dervied from immunoglobulin light chain (kappa and lambda chains). Associated with Plasma cell dyscrasias (overproduction of light chain ex. multiple myeloma)
Plasma Cell Dyscresias
Overproduction of immunoglobulin light chain that can lead to primary systemic amyloidosis (AL amyloid)
AL Amyloid
derived from immunoglobulin light chain
Apo Serum Amyloid A (SAA)
An acute phase reactant that is increased in chronic inflmmatory states (lupus, rheum arthritis, chrons disease, ulcerative colitis), malignancy and Familial Mediteranean Fever. It deposits as AA Amyloid in tissues
AA Amyloid
Derived from SAA which is an acute phase reactant that is increased in chronic inflammatory states, malignancy, and Familial Mediteranean Fever. Systemic amyloidosis 2nd.
Deposits most commonly in kidney.
Dignose via tissue biopsy (ab fat or rectum)
Treat only via transplant
Clinical Findings of Systemic Amyloidosis
Nephrotic syndrome, restrictive cardiomyopathy, tongue enlargmenet, malabsorption, hepatospleenomegally.
FMF
Familail Mediteranean Fever = autosomal recessive dysfunction of neutrophils and occurs in Mediteranean origins. Episodes of fever and acute serosal inflmation (mimics appendicities, arthritis, MI). High SAA during attacks leads to AA amyloid in tissues
Localized Amyloid
Amyloid deposition in single organ. Increase in size of organ due to dpeosition of protein can be coutneracted by the fact that amyloid blocks blood vessels and causes atrophy of organ cells.
Senile Cardiac Amyloidosis
Non mutated serum transthyretin deposits in the heart. Usually asymptomatic and found in 25% of those odler than 80
Familial Amyloid Cardiomyopathy
Mutated Serum transthyretin deposits in heart leading to restrictive cardiomyopathy.
5% of African Americans carry the mutated gene
Non mutated Serum Transthyretin vs Mutated
Non mutated = senile cardiac amyloidosis = asymptomatic = old
Mutated = Familial Amyloid Cardiomyopathy = restrictive heart walls= african americans
Non Insulin-dependent Diabetes Mellitus (Type II)
Amylin derived from insulin deposits in the islets of the pancreas
Alzheimer Disease
A”beta” amyloid depositis in the brain forming amyloid plaques. Gene for Beta-APP is present on chromosome 21 so see early alzheimers in most down syndrome/trisomy 21
