Conditions: Erythropoietic Protoporphyria
Keywords: Sorbent Resin EPP Cutaneous porphyria Adult over age 21 without intercurrent illness not pregnant willing to participate
Allocation: NA | Intervention model: SINGLE_GROUP
Enrollment: 4
Healthy volunteers: yes

Brief summary:
The investigators demonstrated that cholestyramine is an effective binding agent in vitro for porphyrins. A few isolated case reports of treatment of individuals with a cutaneous porphyria suggest that cholestyramine and colestipol effectively remove porphyrins. Hypothesis: orally administered colestipol will effectively reduce sun sensitivity and lower erythrocyte porphyrin concentrations in subjects with erythropoietic protoporphyria (EPP).

Detailed description:
Four adults with proven EPP volunteered as subjects for this study. First period: Subjects received 1 gm colestipol twice daily for \~45 days, then 2 gm twice daily for \~45 days. Labs included CBC; liver chemistries including cholesterol; serum iron, TIBC and ferritin; erythrocyte and plasma protoporphyrin concentrations; and completion of sun exposure questionnaire focused on cutaneous manifestations every 2-4 weeks. Second period: Subjects received colestipol tablets, 2 grams twice daily, completing the sun exposure questionnaire and protoporphyrin determinations \~monthly for 5-6 months.

Arms:
arm 1: 2 grams morning and bedtime for 180 days

Interventions: intervention 1: Colestipol
Intervention descriptions: intervention 1: 2 grams morning and bedtime for 90 days.

Protocol document: