Skip to Main Content

Chapter 121: Porphyria Cutanea Tarda

Eric W. Gou; Karl E. Anderson

PORPHYRIA CUTANEA TARDA

Therapeutic Approach

Porphyria cutanea tarda (PCT) is the most common porphyria and is characterized by the development of skin friability and chronic, blistering lesions on the dorsal aspects of the hands and other sun-exposed areas of skin usually in mid or late life. PCT is an iron-related disease resulting from inhibition of hepatic uroporphyrinogen decarboxylase (UROD, the 5th enzyme in the heme biosynthetic pathway). This develops most commonly in adult males in association with acquired susceptibility factors such as excess alcohol use, smoking, chronic hepatitis C or HIV infection and, particularly in females, with estrogen use. Genetic susceptibility factors may include heterozygous UROD mutations (such patients are said to have familial PCT) and HFE (hemochromatosis gene) mutations. PCT responds readily to repeated phlebotomy, low-dose hydroxychloroquine or treatment of hepatitis C (if present). Before treatment is initiated, the disease must be differentiated from other less common porphyrias that cause identical skin lesions but are unresponsive to these treatments. See Table 121-1.

Table 121-1Porphyria Cutanea Tarda Treatment Table
View Table||Download (.pdf)
Table 121-1 Porphyria Cutanea Tarda Treatment Table
MEDICATION NAME INDICATION MECHANISM OF ACTION DOSING ADVERSE EFFECTS SUGGESTED MONITORING LEVEL OF EVIDENCE (REFERENCE)
Procedural Therapy
Phlebotomy PCTa Depletion of hepatic iron Removal of 450 mL blood q~2wk until serum ferritin reduced to 15-20 ng/mL Anemia

Hemoglobin

Plasma or urine porphyrins

 III1
Systemic Therapy:
Hepatitis C direct-acting antiviral therapy PCTb Treatment of this susceptibility factor Follow standard dosing to achieve undetectable HCV mRNA ≥3 months after end of treatment Related to individual agents Plasma or urine porphyrins III2
Hydroxychloroquine PCTc Mobilizes porphyrins from hepatocytes 100 mg twice weekly until urine or plasma porphyrins are normal for 1-3 mo Transient hepatocellular damage and worsening of photosensitivity, retinopathy, hemolytic anemia Ophthalmology exam before treatment and yearly (if needed) Plasma or urine porphyrins III3
Desferoxamine PCTd Iron chelation 30 mg/kg daily for 1 wk q3mo until serum ferritin reduced to 15-20 ng/mL Injection site and allergic reactions, ocular and auditory disturbances, arthralgia, abdominal pain, rare infections, hypotension, blood dyscrasias, neurological disturbance, respiratory distress, impaired renal function, etc.

Hemoglobin

Plasma or urine porphyrins

 III4
Deferasirox PCTd Iron chelation 250-500 mg daily until serum ferritin reduced to 15-20 ng/mL Renal failure, hepatic abnormalities, GI hemorrhage, cytopenias, abdominal pain, etc. Hemoglobin Plasma or urine porphyrins III5

aFirst-line therapy.

bFirst-line therapy in patients with associated chronic hepatitis C virus (HCV) infection.

cAlternative first-line therapy in the absence of marked iron overload, advanced liver or kidney disease or heavy alcohol intake.

dAlternative therapy when phlebotomy and hydroxychloroquine are contraindicated, eg, anemia or transfusion requirement. Desferoxamine is contraindicated by severe renal failure. Deferasirox is contraindicated by elevated creatinine; high-risk myelodysplastic syndromes or advanced malignancies; thrombocytopenia.

Levels of evidence are based on the Journal of the American Academy of ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.

This site uses cookies to provide, maintain and improve your experience. MH Privacy Center Close