Amyloidosis

Etiology

  • Systemic illness caused by mis-folded proteins depositing in any organ--> disrupting function
  • > 28 variants identified to date
  • AL most common, then AA

Risk Factors

  • Age > 50
  • M>f
  • Fam hx

Symptoms

  • Highly variable, dependent on organ affected; kidney most common (AA, AL), then heart
  • Often painful, symmetric neuropathy affecting distal upper or lower extremities
  • Neuropathy is motor and sensory and can progress rapidly
  • Neuropathy can also present w/bilateral carpal tunnel; autonomic dysfxn
  • Other target organ damage: Renal→ edema, frothy urine, fatigue; Cardiac→ syncope/presyncope from malignant dysrhythmias, refractory chf; Liver, GI tract→ fatigue, malabsorption, constipation
  • Soft tissues, tongue
  • Often delays in dx

Physical Exam Findings

  • Hepatomegaly
  • Carpal tunnel
  • Enlarged tongue
  • Findings vary widely, based on organ system affected
  • Abnormal VS w/autonomic dysfunction
  • Elevated JVP, rales, edema if CHF
  • Nephropathy w/peripheral edema
  • Symmetric peripheral neuropathy

Tests