Clinical Characteristics and Management of Vascular Anomalies: Findings of a Multidisciplinary Vascular Anomalies Clinic

Objective  To describe the scope of the University of California, San Francisco (UCSF), Vascular Anomalies Clinic (VAC), including the types of diagnoses, characteristics, and management of patients seen in the clinic.

Design  Case series.

Setting  Referral, outpatient, multidisciplinary clinic in a university system.

Patients  Consecutive sample of 175 patients seen in the VAC at UCSF from January 2001 to July 2003.

Main Outcome Measures  Diagnosis before and after clinic visit, symptoms, treatment recommendations, age of onset, age at clinic visit, location of lesion, sex, and type of referring physician.

Results  A total of 96% of patients had cutaneous involvement, 71% of patients had vascular malformations, and 14% had infantile hemangiomas. Fifty-eight percent of patients were referred from outside the UCSF system.Of the patients who had not been previously seen by members of the VAC team or UCSF dermatologists, only 22% had been assigned correct specific diagnoses before coming to the VAC, and 13% had incorrect specific diagnoses before coming to the VAC. Fifty-six percent of vascular malformations were first noted at birth and 17% were noted at later than 10 years of age. Eighty-seven percent of patients were symptomatic from their vascular lesion. Sixty-six percent of patients underwent prior magnetic resonance imaging of their lesion. Further diagnostic workup was recommended in 43% of cases, and treatment recommendations were made in 83% of cases.

Conclusions  Significant confusion still exists regarding the appropriate terminology, diagnosis, and management of vascular anomalies. Multidisciplinary clinics effectively address these complicated and troubling disorders by providing accurate diagnoses, clear treatment recommendations, and counseling from a team of specialists.

Vascular anomalies encompass a wide spectrum of lesions with varying degrees of severity, ranging from isolated and innocuous lesions, to those that are disfiguring and disabling, to those that signal the presence of a more complex syndrome. The classification system, originally proposed by Mulliken and Glowacki,¹ and later updated by the International Society for the Study of Vascular Anomalies,² divides vascular anomalies into malformations and vascular tumors, based on their endothelial cell characteristics, clinical presentation, natural history, and histopathologic characteristics. Vascular malformations are congenital structural lesions composed of anomalous blood vessels and/or lymphatics lined with endothelium without cellular hyperplasia. In contrast, vascular tumors demonstrate endothelial cell hyperplasia and behave like neoplasms.

While most physicians are comfortable caring for patients with uncomplicated hemangiomas and port-wine stains, they are less comfortable in evaluating and treating patients with less frequently encountered vascular anomalies. Complicated cases often require the services of a wide range of specialists including dermatologists, vascular and plastic surgeons, radiologists, and otolaryngologists. Because vascular anomalies do not fit neatly into traditional medical and surgical specialties, and owing to the relative rarity of many types of vascular anomalies, patients can easily be misdiagnosed or mismanaged.

In the past, many patients with extensive vascular malformations have been discouraged by the lack of expertise and treatment options available to them. Recently, a number of multidisciplinary vascular anomalies clinics have been created across the United States and elsewhere, in order to meet the needs of this small but significantly underserved population of patients.^3-6 Several authors have reported on specific aspects of their management, or on subsets of patients, yet no one has described the entire scope of one clinic. Multidisciplinary clinics in other fields have been used for some time as an effective, efficient means of patient care.^7,8

The Vascular Anomalies Clinic (VAC) at the University of California, San Francisco (UCSF), is a multidisciplinary referral clinic of experts in the fields of dermatology, plastic surgery, interventional radiology, and otolaryngology established in 1991 to address the complex issues associated with the diagnosis and treatment of children and adults with vascular anomalies. The VAC evaluates between 8 and 12 patients one morning a month. In the first part of the morning each patient is interviewed and examined by each specialist. The group of specialists then convenes to review the clinical findings, pathology reports, imaging studies, and other records and to discuss diagnosis and make recommendations regarding the management of each patient. The patient then discusses the VAC team's suggestions with one of the specialists (usually the one who will be providing treatment). At each VAC meeting, there is also discussion of several patients who have been seen before or are scheduled to be seen in the future, in absentia, which often includes updated clinical information (such as new imaging studies). A nurse coordinator schedules all patient visits and obtains necessary information and imaging studies to be reviewed before the actual visit.

In this study we aimed to describe the scope of the VAC, including the types of diagnoses of patients seen in the clinic, the age range and demographics of patients in the clinic, and their preclinic and postclinic diagnoses. Our hypothesis was that a significant proportion of the patients seen in the VAC had been previously misdiagnosed and/or suboptimally managed. Understanding the diagnosis and treatment of vascular anomalies will enable clinicians to improve the care provided to this group of patients.

A retrospective review of all patients seen in the VAC at UCSF from January 2001 to July 2003 was performed. After discussion and review of each patient case, a letter summarizing the patient's medical history, physical findings, disease course, and VAC recommendations is generated and reviewed in detail and revised by the head of the VAC. This letter serves both to communicate with referring physicians and to provide a reference document for the patient's personal records, so that in addition to all relevant physicians, all patients receive a copy of their VAC summary letter. This letter and the computerized list of patient visits to UCSF Medical Center were reviewed for each patient. For 3 patients who had no dictated summary letter, information was extracted from the chart notes recorded near the time of the patients' VAC visit. The second visit was excluded for patients who were seen twice during the study period. Data of patients who were discussed in absentia were also excluded.

The specific information extracted from each patient's dictated summary letter included sex, age at presentation, age of onset, diagnosis before coming to the VAC, diagnosis of the VAC team, symptoms (pain, swelling, bleeding, functional compromise, disfigurement, infection, other), location of the lesion, treatment recommendations, number of physicians seen before coming to the clinic, and type of referring physician. Some letters did not include all of the above information. No further chart review was performed to find missing data as long as there was a summary letter available. The computerized list of patient visits to UCSF Medical Center was used to determine if patients had been seen at UCSF Medical Center before evaluation at the VAC, and to determine if patients had been evaluated by members of the VAC or other UCSF physicians before coming to the VAC. Data were recorded and analyzed using Excel software (Microsoft, Redmond, Wash).

During the 2½-year study period there were 181 patient visits to the UCSF VAC. Six patients were seen twice in that period and their second visit was excluded, leaving 175 patient visits for review. Sixty-one percent of patients were female and 61% were children (≤18 years old). The mean (median) age at the clinic visit was 17.9 (12) years.

Table 1 lists the diagnoses for the 175 patients. Venous malformation was the most common diagnosis, followed by infantile hemagiomas, mixed vascular malformations, lymphatic malformations, arteriovenous malformations, Klippel-Trenaunay syndrome, Proteus syndrome, and capillary malformations. Patients with other less frequent diagnoses and uncertain diagnoses comprised 18% of the patients. A diagnosis was categorized as uncertain if the VAC team could not decide on a specific diagnosis and instead listed a differential diagnosis in the letter. Examples of these include venous malformation vs glomangioma; infantile hemangioma vs noninvoluting congenital hemangioma; reticulated port-wine stain vs cutis marmorata telangiectatica congenita; and hereditary hemorrhagic telangiectasias vs Fabry disease. For most of the patients with uncertain diagnoses, the VAC recommended further diagnostic workup.

Of the patients who had not been previously seen by members of the VAC team or UCSF dermatologists, only 22% had been assigned correct specific diagnoses before coming to the VAC, and 13% had incorrect specific diagnoses before coming to the VAC (Table 2). Most patients either had no prior diagnosis specified or had a general diagnosis such as "vascular lesion" or "vascular anomaly." Five of the 62 venous malformations had been previously diagnosed as hemangiomas, and 3 had been termed "cavernous hemangiomas." Four of the 6 patients with Proteus or Proteuslike syndrome had been misdiagnosed before coming to the VAC.

The majority of patients seen in the VAC (58%) had been referred by physicians outside the UCSF medical group, having had no prior visits to UCSF physicians or only 1 visit within 2 months of the VAC visit. In 59 VAC letters (34%), patients reported seeing 1 or more specialists before presenting to the VAC, and many had seen several specialists.

The majority (56%) of vascular malformations were first noted at birth (Table 3). However, 21 vascular malformations (17%) were noted at later than 10 years of age and 1 as late as 74 years of age. Of those vascular malformations diagnosed after 10 years of age, the majority (13, 62%) were venous malformations, followed by arteriovenous malformations (6, 29%), mixed malformation (1, 5%), and Proteus syndrome (1, 5%). Sixteen of the 24 infantile hemangiomas were noted within the first month of life (8 at birth, 8 within the first month). No infantile hemangiomas were first noted after 6 months of life.

The anatomic distribution of lesions in our patient population was fairly evenly divided between the head and neck, and the extremities and trunk (Table 4). A large majority (87%) of patients were symptomatic from their vascular lesion. Pain was the most commonly reported symptom (51%), followed by functional compromise (27%), swelling (24%), and disfigurement (21%). Lesions on the extremities were more likely to cause pain than lesions elsewhere (82% upper extremity, 84% lower extremity), while oral lesions were most likely to be complicated by symptomatic swelling (50%) (Table 5). Ninety-six percent of our patients had cutaneous involvement defined as color, textural change, or the presence of a palpable mass.

Table 6 shows the distribution of various management and treatment recommendations. Sixty-six percent of patients underwent prior magnetic resonance imaging (MRI) of their lesion, a percentage that reflects the utility of magnetic resonance in the evaluation of vascular anomalies. In some cases, MRI was performed at the suggestion of a physician from the VAC after prior discussion with the patient's referring physician. The VAC team made recommendations for further diagnostic evaluations in 43% of cases, and recommendations for specific immediate or deferred treatment in 83% of cases. One patient had no management recommendations recorded. The VAC team recommended surgery in 37% of cases, sclerotherapy or embolization in 29%, laser therapy in 12%, and palliative therapy such as low-dose aspirin or compression garments in 32%. Many patients (27%) received a treatment plan that incorporated multiple modalities.

Although the classification of vascular anomalies has been well established in the literature over the past 2 decades, our study demonstrates that significant confusion still exists regarding the appropriate terminology, diagnosis, and management of vascular anomalies. Only 24 patients (22%) who had not been previously seen by VAC physicians or UCSF dermatologists had a correct specific diagnosis noted in their summary letter before coming to the VAC. There were 13% who had overtly incorrect diagnoses. These numbers could be low estimates as there were many letters in which a prior diagnosis was not recorded. This suggests that there are many patients with vascular anomalies who are unsure of their diagnosis, or who may be receiving suboptimal treatment. It is important to recognize that patients are being referred to the VAC because their conditions are difficult to diagnose or manage. These difficult cases are precisely the cases for which a multidisciplinary clinic is most needed.

In addition to establishing correct diagnoses, the VAC multidisciplinary team provided treatment recommendations in the majority of cases (83%) and recommended further diagnostic workup in 43% of cases. The most common treatment recommendations were interventions such as sclerotherapy for venous and macrocystic lymphatic malformations, surgical excision, and palliative therapies such as low-dose aspirin and compression stockings. Multidisciplinary clinics such as the VAC afford patients the opportunity to simultaneously meet the surgeons, interventional radiologists, dermatologists, and other specialists who will recommend and perform most of the interventional therapies. This lessens the need for multiple visits and helps achieve a consensus view of management. Additionally, patients can have detailed discussions about the risks and benefits of the recommendations at the time of their VAC evaluation. Often, this eliminates the need for preprocedure consultation visits and helps to expedite patient care. For the 17% of patients for whom no treatment recommendation was made, no intervention was believed to be the most appropriate course of action. For example, in patients with uncomplicated infantile hemangiomas it is often appropriate to not intervene. The knowledge transfer and extensive counseling that take place for each patient at the VAC is of equal importance to treatment recommendations for many patients who may have been misdiagnosed, or not well informed about their vascular condition.

The UCSF VAC sees patients with a variety of diagnoses including rare syndromes. The most common diagnosis seen at the VAC was venous malformation, followed by infantile hemangioma and mixed vascular malformations. This distribution is similar to what has been reported in other series, yet clearly does not reflect the true incidence of these diagnoses in the population. The vast majority of infantile hemangiomas seen at UCSF were seen in the Pediatric Dermatology Faculty Practice and only 5.5% (24/440) were evaluated at the VAC, usually because of severity or therapeutic dilemmas.

The age of onset of the lesions in our clinic was also somewhat different from what was initially reported by Finn et al.⁹ Interestingly, in our population only 56% of the vascular malformations were apparent at birth, as opposed to 99% in Finn et al's study. Our finding is similar to that of several more recent publications that report that a significant minority of patients with venous and arteriovenous malformations present either in childhood or adulthood.^5,10 The difference in the age of onset reported in more recent studies compared with that of Finn et al could be due to better understanding and classification of vascular lesions that has developed in the last 2 decades. The majority (66%) of our patients had undergone MRI before their visit. This utilization of imaging is consistent with several articles recently published regarding the utility of MRI in clarifying the extent and diagnosis of a vascular lesion.^3,11

The symptoms that our patients report are similar to those reported elsewhere.^4,5,10 A large majority (87%) of our patients are symptomatic from their vascular lesion. A significant majority of lower extremity lesions are complicated by pain, which often leads to decreased functionality. A significant proportion of oral lesions are complicated by swelling and bleeding, sometimes leading to problems with speech, eating, and breathing. The location of the vascular anomaly plays an important role in predicting subsequent complications. Clearly, many vascular anomalies are very troubling to patients and can have a profound impact on their lives.

Our study has several limitations. The retrospective nature of our study depends on data recorded in an unsystematic way. Because of the clarity and ease of reviewing the dictated summary letter, we did not complete a thorough chart review. In most cases the information included in the letter was sufficient, but many letters did not include the patient's prior diagnosis, or how many physicians the patient had seen before coming to the VAC. The percentage of missing data ranges from 0% (symptoms, demographics, location of lesion) to 12.6% (age of onset) to 31% (prior diagnosis) to 65% (number of specialists seen previously).

The UCSF VAC is held at the Dermatology Clinic. This may in part account for the very high percentage (96%) of patients who had cutaneous or soft tissue findings. Even considering this bias, however, cutaneous stigmata are seen in most patients with non–central nervous system vascular anomalies.

This study demonstrates the need for continued education regarding the correct diagnosis, terminology, and treatment of vascular anomalies. It also confirms the important role of multidisciplinary teams in caring for patients with these complicated conditions. Interdisciplinary communication between physicians enhances the knowledge base of the participating physicians and widens their perspective on therapeutic considerations. Pooling the experience of multiple practicing physicians is especially beneficial in rare disorders such as vascular malformations and enables diagnosis and treatment decisions to be founded on more than experience drawn from a handful of patients. Multidisciplinary clinics are efficient and effective from both the patients' and physicians' perspective, eliminating the need for multiple visits to multiple physicians. Clinics such as the VAC have the potential to considerably improve the quality of life for the large proportion of patients who are significantly affected by symptoms such as pain and disfigurement. These clinics also provide the opportunity for further investigation and standardization of treatment of patients with rare and complicated vascular anomalies. Dermatologists should be aware of the clinical manifestations and management of this group of diseases and should play an important role in multidisciplinary vascular anomalies clinics.

Correspondence: Ilona J. Frieden, MD, Departments of Pediatrics and Dermatology, University of California San Francisco, 1701 Divisadero St, Third Floor, San Francisco, CA 94143 (friedeni@derm.ucsf.edu).

Accepted for publication April 7, 2004.