Porphyria Cutanea Tarda

  • General Information
    • Most common type of porphyria; prevalence is 1 in 25,000 in the United States.
    • Due to deficiency in uroporphyrinogen decarboxylase (UROD) which participates in heme synthesis.
    • Deficiency causes buildup of uroporphyriogen in the urine.
  • Clinical Manifestations:
    • Typically presents later in life (age > 30) and characterized by chronic blistering skin in sun-exposed areas.
    • Lesions are thought to be due to buildup of uroporphyrinogen on the surface of skin; exposure to sunlight is thought to produce reactive oxygen species leading to skin changes.
    • Considered a highly heterogeneous disease with multiple factors contributing to disease susceptibility: alcohol, hepatitis C, HIV, hemochromatosis
    • PCT is thought to be an iron-dependent disease
  • Diagnosis
    • Definitive diagnosis by biochemical testing including predominance of uroporphyrin and heptacarboxyl porphyrins in urine and/or plasma.
  • Treatment
    • Repeated phlebotomy
    • Low dose hydroxychloroquine
    • Iron chelation
    • Cessation from alcohol and smoking
    • PCT should not delay treatment of HIV. Typically PCT is treated first and then hepatitis C is treated.

Optimal Management of Rhabdomyolysis

A patient is admitted to the hospital after doing 1000 squats in the middle of a Texas summer. His CK is through the roof, but renal function, for now, is normal. How do you manage this patient? How do you prevent acute kidney injury?! FLUIDS or DIALYSIS, until the CK comes down, right? That’s just the start! Best practices in the management of rhabdomylosis are discussed in the following review article in the New England Journal of Medicine, including guided fluid usage based on urine pH, treatment with sodium bicarbonate, and the use of mannitol! Take a look below:

NEJM RhabdoLink to the original article.