Porphyria
Porphyria is a group of seven rare conditions that are caused by accumulation of substances called porphyrins in the body. Depending on where the porphyrin build up happens, patients can have different symptoms such as pain, neurologic symptoms, or skin problems.
There are seven different types of porphyria, which makes this a very complex group of disorders. The main types are the acute porphyrias and the cutaneous (skin) porphyrias. Affected individuals should be taken care of by a physician with significant expertise in this field.
Dr. Ludtke Erwin is a nationally recognized porphyria specialist who was a trainee in the ‘Protect Our Future’ program at the Porphyria Comprehensive Diagnostic and Treatment Center at Mount Sinai Hospital in NYC (supported by the American Porphyria Foundation). She is an expert in diagnosing, treating, and managing the different types of porphyria and is committed to providing comprehensive care to children and adults affected with these rare conditions.
In addition to co-authoring several scientific publications in peer-reviewed manuscripts, Dr. Ludtke Erwin also participated in educational video recordings about porphyria for other professionals in the medical field through Medscape.
Useful Links
United Porphyrias Association
Educational Material for Clinicians
Medscape CME and Education:
Acute Intermittent Porphyria: How Would You Manage These Patients?
https://www.medscape.org/viewarticle/844978
Clinical Issues in AIP: When to Suspect and How to Proceed
Scientific Publications
Erwin AL, Balwani M. Porphyrias in the Age of Targeted Therapies. Diagnostics. 2021. 11:1795.
Erwin AL, Desnick RJ. Congenital erythropoietic porphyria: Recent advances. Molecular Genetics and Metabolism. 2019. 128:288-297.
Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. Molecular Medicine. 2015. 21:487-95.
Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. Molecular Medicine. 2015. 21:487-95.
Erwin A, Balwani M, Desnick RJ; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Congenital Erythropoietic Porphyria. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™. Seattle (WA): University of Washington, Seattle; 2013.