Early Versus Later Presentations of Venous Malformations: Where and Why?

Abstract

Venous malformations (VMs) are congenital anomalies of the venous vasculature, but not all are evident at birth. The factors that lead to presentation later in life are not well understood. The objective of this retrospective cohort study of patients with VMs evaluated at the University of California at San Francisco Birthmarks and Vascular Anomalies Center from 2005 to 2009 was to investigate the clinical presentation of VMs and correlate these features with different types of tissues (e.g., skin, subcutis, intramuscular). Main outcomes included the age at which lesions were first noticed, tissue type involved, presenting signs and symptoms, aggravating factors, and morbidities. A total of 115 subjects was included. The mean age when VM was first noted was 6.7 ± 0.9 years. Tissue types involved included skin/subcutaneous (46%); intramuscular (40%); and bone, tendon, or joint (14%). Presenting signs/symptoms included soft tissue swelling (44%), discrete mass (34%), pain (33%), and skin discoloration (26%). When compared with VMs limited to the skin or subcutis, those restricted to the intramuscular compartment were less likely to present at birth (27% vs 53%, p < 0.05) but were more frequently painful (79% vs 60%, p < 0.05) and contained more phleboliths (28% vs 11%, p < 0.05), and were associated with more exercise limitation (35% vs 16%, p < 0.05). VMs differ in age of onset, clinical features, and complications based on differing tissues and sites of involvement, with isolated intramuscular involvement associated with later presentation and greater morbidity.

MRI phenotypes of localized intravascular coagulopathy in venous malformations

“…This exercise-limiting pain essentially nullifies the normal compressibility one would expect of intramuscular lesions. In fact, Vogel et al [15] demonstrated that intramuscular venous malformations contained more phleboliths than lesions involving other tissue types further supporting this low flow hypothesis.…”

“…On first glance, intramuscular venous malformation association with LIC would appear to contradict the theory that lack of compression leads to an abnormality in the coagulation cascade. Intramuscular venous malformations, however, tend to be more painful than lesions involving other tissue types and this pain is severe enough to limit exercise and otherwise normal activity [15,16]. This exercise-limiting pain essentially nullifies the normal compressibility one would expect of intramuscular lesions.…”

Internal venous anomalies in patients with a genital venous malformation

“…Our patients developed symptoms from infancy to adolescence, similar to other VM cohorts . VMs worsen over time, particularly around puberty .…”

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies

“…They may be evident at birth, but many cases, particularly those with predominantly intramuscular disease, often present later in life with pain provoked by vigorous physical activity. 45 Familial VMs present generally as small…”