Amyloidosis Flashcards
Define amyloidosis
Disease characterised by extracellular deposition of amyloid (fibrils)
What are amyloid deposits
Specimens that binds the cotton wool dye congo red and demonstrates green birefringerence when viewed under polarised light
What are the 4 types of amyloidosis
Primary (AL) - Ig light chain amyloidosis Non-familial secondary amyloidosis (AA) Secondary amyloidosis (AA) ATTR/familial amyloid polyneuropathy
What causes Primary amyloidosis
Unknown
Associated with multiple myeloma
What causes non-familial secondary amyloidosis
Inflammatory polyarthropathies (RA etc.) chronic infections injection UTI IBD
What causes secondary amyloidosis
Familial Mediterranean fever
Muckle-Wells
What causes familial amyloid polyneuropathy (ATTR)
Autosomal dom disease
Mutaiton in gene for transthyretin (TTR)
Epidemiology of amyloidosis
Prevalence increasing
Prevalence and incidence greater in males
Mean age 63
Symptoms of amyloidosis
Lower limb swelling Periorbital purpura Macroglossia Fatigue, weight loss Dyspnoea Parasthesiae Claudication Nausea, cramps, bowel habit altered
What are the signs of amyloidosis on the skin and joints
Waxy skin
Easy bruising - Bleeding diathesis
Purpura around the eyes
Plaques and nodules
Painful asymmetrical large joints, shoulder pad sign (ant. shoulder enlargement)
What are the GI signs of amyloidosis
Macroglossia (deficiency)
Hepatosplenomegaly
Proteinuria
What are the cardiac signs of amyloidosis
Restrictive cardiomyopathy
HF signs
Arrhythmias
Angina
What are the investgations for amyloidosis
Ig free light chain assay - abnormal kappa to lambda ratio
Tissue biopsy - green birefringerence under polarised light + congo red stain
Urine - Proteinuria, free Ig light chains (AL)
Serum/urine immunofixation - Monoclonal protein present
Bone marrow biopsy - clonal plasma cells seen
What are the neurological signs/manifestations of amyloidosis
Sensory neuropathy (initially pain+temp -> proprioception) Carpal Tunnel - Tinel's and Phalen's sign
