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09:43
Measurement of Heme Synthesis Levels in Mammalian Cells
Published on: July 9, 2015
Haem arginate as effective maintenance therapy for hereditary coproporphyria
Ellen Ma1, Victoria Mar, George Varigos
1Departments of Dermatology Gastroenterology, The Royal Melbourne Hospital, Parkville, Victoria, Australia. ellenhma@yahoo.com
The Australasian Journal of Dermatology
|May 25, 2011
Summary
Regular haem arginate infusions effectively managed hereditary coproporphyria (HCP) symptoms in a patient. This approach normalized biochemical markers, suggesting a new maintenance therapy for HCP.
Area of Science:
- Biochemistry
- Dermatology
- Genetics
Background:
- Hereditary coproporphyria (HCP) is a rare genetic disorder.
- Patients often experience debilitating symptoms like skin fragility and photosensitivity.
- Current treatments primarily focus on acute attacks.
Observation:
- A 35-year-old woman with HCP presented with severe skin fragility, photosensitivity, and systemic symptoms.
- Standard precautions were insufficient to control her condition.
- Porphyrin studies confirmed elevated levels consistent with HCP.
Findings:
- Monthly infusions of haem arginate (3 mg/kg/day for 4 days) led to significant symptom improvement.
- Urinary porphobilinogen levels decreased, indicating biochemical normalization.
- This marks the first report of regular haem arginate infusions as effective maintenance therapy for HCP.
Implications:
- Regular haem arginate infusions may offer a novel maintenance treatment strategy for hereditary coproporphyria.
- This approach could improve the quality of life for HCP patients by providing sustained symptom control.
- Further research is warranted to establish the long-term efficacy and safety of this therapeutic regimen.
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