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Journal article
EGLN1-positive familial erythrocytosis: a rare variant with an unusually aggressive clinical course
Journal of hematopathology, v 18(1), 30
08 Jul 2025
PMID: 40627222
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Abstract
Familial erythrocytosis type 3 (ECYT3) is a rare condition caused by loss of function germline mutations in the prolyl hydroxylase domain-2 (PHD2), a regulator in the hypoxia-sensing pathway. Although mutations in PHD2 have been previously described, this particular variant lacks clinical characterization and presents with an aggressive course. We report the case of a patient with vasomotor symptoms and elevations in hematocrit (HCT) and hemoglobin (Hgb) despite frequent therapeutic phlebotomy. He had a family history of erythrocytosis spanning four generations. Germline genetic testing revealed a rare pathogenic variant of PHD2, confirming a diagnosis of ECYT3. Therapeutic phlebotomy yielded only transient Hgb and HCT reductions and only partial symptomatic control. This case highlights the diagnostic challenges and limitations of current treatments for hereditary erythrocytosis and underscores the need for symptom-centered management strategies. Furthermore, we highlight a gap in the literature around the pathophysiology and management of ECYT3.
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Details
- Title
- EGLN1-positive familial erythrocytosis: a rare variant with an unusually aggressive clinical course
- Creators
- Laura Maule (Corresponding Author) - Drexel University, SurgeryBrielle Coe - Drexel UniversityRishi Sawhney - Bayhealth Foundation
- Publication Details
- Journal of hematopathology, v 18(1), 30
- Publisher
- Springer Nature
- Number of pages
- 4
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- College of Medicine; Surgery; General Internal Medicine
- Web of Science ID
- WOS:001525164100001
- Scopus ID
- 2-s2.0-105010200867
- Other Identifier
- 991022062817804721
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InCites Highlights
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- Web of Science research areas
- Hematology
- Pathology