Abstract
BACKGROUND/AIM: Spongiform venous malformations (sVMs) get symptomatic in >90% of cases during a person's lifetime. Misdiagnosis is still common and treatment often incomplete, making this disease a lifelong issue for patients with a relevant impact on their quality of life. PATIENTS AND METHODS: Medical records and imaging studies of patients with VMs from April 2002 to January 2017 were reviewed for confirmation of diagnosis and classification of the VMs. Only sVMs were included. Subjective data were obtained from the survey related to indication, response, and complications. We analyzed the frequency of correct diagnosis and Quality of Life by an SF12-based questionnaire for sVM-related issues in Swiss patients. RESULTS: A total of 80 patients were included in the study. Forty-six (58%) patients were females. Patients were 11.6-77 years old with a median age of 28.1 years. The correct diagnosis according to the ISSVA-classification after having been seen at our Institution was 87%. Thirty-one (39%) patients responded to the survey. Sixteen (51%) were female. Twenty-eight (90%) patients felt that their sVM-related state of health improved within a year. Twelve (39%) patients reported that they could not work as good as normal because of slight to modest impairment by the sVM, while 19 (61%) patients were unimpaired. Mental impairment was found in 8 (26%) patients, while 23 (74%) patients felt no impairment. Eight (26%) patients reported that they were impaired within social contacts due to their sVM. Only 9 (29%) patients reported that venous malformation was diagnosed around birth. Twenty-three (74%) patients received a wrong diagnosis. Patients that were treated, reported close to complete relief of symptoms in 26% (8 patients) while also 26% (8 patients) reported no change of symptoms after therapy. CONCLUSION: Swiss sVM patients also suffer from misdiagnosis and late diagnosis. They are impacted in their daily life by their disease.