Year: 2024
Type: conference-paper
Study design: Case Report
Abstract: We present the case of a 71-year-old female with acquired erythropoietic protoporphyria (EPP) associated with myelodysplastic syndrome (MDS). She had been diagnosed 3 years prior to initial presentation with myelodysplastic syndrome and was receiving cycles of venetoclax and azacytidine. She presented with a one-year history of severe pain and swelling in her face and hands on exposure to sunlight. Within 10 minutes of sun exposure tingling and pruritus would develop. This would then progress to pain that could last up to 3 days. Minor relief was provided by immersing hands in cold water and pregabalin 150mg BD. Symptoms reportedly improved over winter and with chemotherapy cycles. She had previously seen an immunologist who diagnosed angioedema and commenced her on regular antihistamines and weaning courses of oral prednisolone 25mg for flares. When she did not respond to this treatment she was referred to dermatology. There was no family history of similar issues.Examination of the skin was unremarkable, with no erythema, purpura, oedema, thickening or scarring. Based on her classic symptoms, a porphyrin screen was sent, which demonstrated elevated total red blood cell porphyrin of 36.1 umol/L RBC (reference range <1.8) with normal levels of zinc protoporphyrin 1.3 umol/L RBC (reference range <1.6). Liver function tests were unremarkable. She was mildly anaemic, in keeping with MDS. A diagnosis of erythropoietic protoporphyria was made. She was able to cease prednisolone and antihistamines. We counselled her on the need to avoid sun exposure and implement strict sun protection strategies. Presently, she continues venetoclax monotherapy. A bone marrow transplant would potentially be curative for both MDS and EPP however, she has previously been deemed inappropriate due to her age.While acquired EPP is a rare entity, our case exemplifies the need to screen for EPP in patients of any age where there is clinical suspicion, especially in patients with an underlying haematological disorder. Treatment of the abnormal bone marrow clone with chemotherapy temporarily reduces EPP symptoms.
Author: Gayle Ross
Institutions: The Royal Melbourne Hospital, The University of Melbourne
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4402696329