Orphanet J Rare Dis. 2025 Oct 7;20(1):504. doi: 10.1186/s13023-025-03995-8.
ABSTRACT
BACKGROUND: Cutaneous venous malformations (cVMs) are rare vascular anomalies characterized by progressive vessel ectasia, leading to disfigurement, pain, ulceration, and bleeding. These lesions often evade early detection and are notoriously difficult to treat due to the limited dermal bioavailability of systemic therapies. Unlike deep venous malformations, cVMs present unique management challenges and currently lack FDA-approved treatments. To address the paucity of epidemiologic data, we conducted a nationally representative, blinded, real-world observational probability study to estimate the annual treatment prevalence of cVM in the United States. A geographically representative sample of dermatologists, hematologist-oncologists, pediatricians, radiologists, and vascular surgeons was recruited via blinded invitations. Participants self-reported the number of cVM patients treated in the prior 12 months. Estimates were adjusted for comanagement to calculate the national prevalence of unique patients.
RESULTS: Of 691 physicians who accessed the study website, 515 (74.5%) completed the survey; 376 (73.0%) reported managing at least one patient with cutaneous-only or mixed (cutaneous and internal) VMs. The estimated annual prevalence was 194,195 patients (95% CI 188,852-200,228), including 135,687 with cutaneous-only VMs and 58,508 with mixed lesions. This corresponds to a prevalence of 0.06% (US population).
CONCLUSIONS: While cVM is rare, it affects a substantial number of individuals across age groups in the U.S. These findings underscore the need for improved access to care and the development of targeted therapies for this understudied, debilitating condition.
PMID:41057921 | DOI:10.1186/s13023-025-03995-8
