Daily Archives: May 18, 2015
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