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Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children
Joanna H Tu1, Sarah L Sheu2, Joyce M Teng2
1Department of Dermatology, Stanford University, Stanford, California2Columbia University College of Physicians and Surgeons, New York, New York.
Insights
Cimetidine offers a promising new treatment for children with erythropoietic protoporphyria (EPP), significantly reducing photosensitivity and improving quality of life. This study shows rapid symptom relief and improved lab values with no adverse effects observed.
Area of Science:
- Dermatology
- Genetics
- Biochemistry
Background:
- Erythropoietic protoporphyria (EPP) is a rare genetic disorder causing severe photosensitivity and potential liver damage.
- Current treatment options for pediatric EPP are limited, significantly impacting children's quality of life.
- Cimetidine, known to inhibit heme biosynthesis, has shown promise in other porphyria types.
Purpose of the Study:
- To evaluate the efficacy and safety of systemic cimetidine in treating pediatric patients with EPP.
- To document the impact of cimetidine on photosensitivity, skin condition, and laboratory markers in children with EPP.
Main Methods:
- Retrospective review of medical records for pediatric EPP patients (<18 years) treated with oral cimetidine over three years.
- Assessment of clinical photodamage, sun exposure tolerance, participation in outdoor activities, serum erythrocyte protoporphyrin levels, and liver function tests.
Main Results:
- All three pediatric patients experienced rapid reduction in photosensitivity within weeks of starting cimetidine.
- Significant improvement or complete resolution of skin photodamage was observed.
- Laboratory results showed decreased serum erythrocyte protoporphyrin levels and improved liver function.
- No adverse effects were reported after over two years of continuous treatment.
Conclusions:
- Cimetidine is a safe and effective oral treatment option for children diagnosed with erythropoietic protoporphyria (EPP).
- This case series highlights cimetidine's potential to improve the quality of life for pediatric EPP patients by alleviating key symptoms.
- Further research is warranted to confirm these findings in larger pediatric cohorts.
Importance:
Erythropoietic protoporphyria (EPP) is a rare hereditary disease of heme biosynthesis that manifests as severe photosensitivity and hepatotoxicity. There have been no effective treatments to date. Cimetidine has been shown to inhibit heme biosynthesis and results in symptomatic improvement in patients with acute intermittent porphyria (AIP) and porphyria cutanea tarda (PCT). There is only 1 report in the literature describing the use of cimetidine in the effective treatment of an adult patient with EPP.
Objective:
To describe the successful use of cimetidine in pediatric patients with EPP.
Design, Setting, And Participants:
Retrospective medical record review carried out in a pediatric dermatology practice at an academic institution of patients diagnosed with EPP who were younger than 18 years and treated with systemic cimetidine in the past 3 years.
Interventions:
Systemic cimetidine.
Main Outcomes And Measures:
Resolution of skin photodamage was evaluated on clinical examination. Subjective measures including tolerability to sun exposure, ability to participate in outdoor activities, and objective evaluation including serum erythrocyte protoporphyrin levels and liver function tests following treatment were assessed.
Results:
All 3 cases reported a rapid reduction in photosensitivity within weeks following initiation of systemic therapy. Their skin photodamage were also improved or resolved completely on subsequent examination. Laboratory study results also revealed reduction in serum erythrocyte protoporphyrin levels and improved liver function. None of the patients have reported any adverse effects of the systemic treatment after more than 2 years of treatment.
Conclusions And Relevance:
Children with EPP currently have limited therapeutic options and experience substantial disease impact on their quality of life. This is the first case series demonstrating that cimetidine, a readily available oral medication, can be a promising treatment for children with EPP.
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