The Surprising Ways Americans Die in all 50 States

Who should be screened for PAD?

• Symptoms of claudication
• Non-healing wounds in lower extremities
• Age >/= 65
• Age >/= 50 with history of smoking or diabetes
• Abnormal lower extremity pulses on exam
• Known atherosclerotic coronary, carotid or renal artery disease

ACC/AHA PAD Guidelines 2011

Special thanks to Dr. Ariel Vinas for the information!

Wilson’s Disease

General Information:

• Typically, we ingest more copper in the diet than necessary – most is excreted through the biliary system (some through the urine)
• Normally, ingested copper is stored in plasma as ceruloplasmin.
• Patients with Wilson’s disease, have a decreased rate of copper incorporation into ceruloplasmin and a decreased rate of biliary excretion

Clinical Manifestations:

• Typically considered a disease that presents in young people, but can present at any age
• The most common presentations are with liver disease or neuropsychiatric disturbances
• Wilson’s disease can manifest with an impressive spectrum of neurological, behavioral or psychiatric disorders, which may be its first clinical manifestation, appearing simultaneously with hepatic signs, or some years later.
• System-specific
  • Liver: cirrhosis; increased bilirubin out of proportion to alkaline phosphatase, which may be abnormally low; AST>>ALT
  • Heme: hemolytic anemia, caused by release of copper into the circulation
  • Neurologic: movement disorder (tremor, poor coordination) or rigid dystonia, including bulbar sx
  • Psych: highly variable—from OCD to psychosis to depression
  • Ocular: Kayser-Fleischer rings caused by copper deposition (not required for dx, nor are they specific for Wilson’s—may be found in other types of chronic liver disease)
  • Renal: Fanconi’s syndrome (proximal tubular dysfunction resulting in Type 2 RTA, glucosuria with normal serum glucose, hypouricemia and hypophosphatemia)
  • Also: arthritis, cardiomyopathy, rhabdo, pancreatitis

Diagnostic Tests: 

• Serum ceruloplasmin: classically, this is low. May be normal in up to 5% of patients; can also be low in other forms of chronic liver disease
• 24 hour urinary copper: elevated; good confirmatory test
• Slit-lamp exam for Kayser-Fleischer ring
• Liver biopsy

Management:

• Copper chelation: penicillamine, trientene, or zinc
• Fulminant hepatic failure generally requires transplant
• Family screening is key for siblings of those affected, as early treatment can greatly improve prognosis