Complex Vascular Malformations Research Articles

Emergency Care for Pediatric and Adult Patients Affected by Complex Vascular Malformations

Objectives: To characterize the experiences of patients with vascular malformations (VMs) when seeking care for acute or emergent health needs. Methods: Semistructured qualitative interviews and survey study. Setting: National recruitment through patient advocacy groups and multidisciplinary vascular anomaly clinics. Patients/Participants: Adult patients and parents of children with self-reported VM. Results: We interviewed 25 young adult patients and 34 parents. We received survey responses from 138 adult patients and 73 parents who answered all items of interest (analytic cohort = 211). Interview participants described negative experiences with emergency care related to 4 themes: (1) delayed or inadequate care, (2) lack of competent, knowledgeable clinicians, (3) lack of collegial collaboration, and (4) insufficient trust of clinicians in parent’s or patient’s knowledge. Patients and parents reported an average of 1.7 and 2.6 VM-related health problems requiring emergent management in the prior year, respectively. In multivariable logistic regression, having at least one acute or emergent problem in the prior year was associated with household income ≥$100 000 (odds ratio = 0.34, 95% confidence interval, 0.17–0.70), but not gender, race, and ethnicity, age, having a VM specialist, or primary care doctor’s knowledge of VMs. Conclusions: Many patients with VMs require emergent or acute care for complications of their VM. Patients with lower household incomes are more likely to experience these emergent events. Negative experiences often focused on nonsupportive clinician behaviors. Future studies should develop tools to empower patient self-advocacy and provide high-yield information to nonspecialist clinicians.

Real-World Data on the Use of Sirolimus in Asian Children with Vascular Malformations.

The management of vascular malformations is complex and challenging. This study aimed to explore efficacy, plasma trough concentrations of sirolimus, post-withdrawal conditions, and adverse reactions of sirolimus in treating complex vascular malformations. In our center, we analyzed vascular malformations treated with sirolimus (and corticosteroid) from August 2017 to June 2021. Meanwhile, we reviewed the medical records, the efficacy, side effects, and laboratory tests. Patients who had stopped taking sirolimus were followed up by telephone. A total of 25 patients with complicated vascular malformations in our center, including 7 females and 18 males aged 4 months to 15 years, were enrolled. In all, 19 patients (76.0%) responded to sirolimus, and the plasma concentration of sirolimus fluctuated between 0.97 and 27.15ng/ml. In all, 24 patients (96.0%) were in follow-up. A total of 15 patients (62.5%) stopped taking sirolimus during follow-up, and 2 patients (13.3%) discontinued the sirolimus due to side effects. A total of 3 patients (20.0%) restarted sirolimus treatment. Starting dose of 1.5-2 mg/m2 sirolimus is effective and safe in vascular malformation treatment. The best treatment regimen and discontinuation indications needed more investigation. Most should be done about targeted therapy to improve effectiveness and reduce side effects.

Starting a robotic thoracic surgery program: From wedge resection to sleeve lobectomy in six months. Initial conclusions

IntroductionRobot-assisted thoracic surgery (RATS) is a rapidly expanding technique. In our study, we aimed to analyze the results of the process to adopt robotic surgery in our Department of Thoracic Surgery. MethodsThis is an intention-to-treat analysis of a series of consecutive patients operated on using the RATS approach in our hospital from January 2021 to March 2022. Data were registered for patient characteristics, type of surgery, operative times, conversion rate, chest tube duration, length of hospital stay and complications.The IBM SPSS® statistical software was used for the statistical analysis. A cumulative sum analysis of the operating time was performed to define the learning curve. ResultsDuring the study period, 51 patients underwent robotic surgery, including pulmonary and non-pulmonary interventions. In addition, 15 patients (29.4%) underwent non-pulmonary interventions: one pleural (2%), 2 diaphragmatic (3.9%), and 12 mediastinal (23.5%). Among the mediastinal surgeries, one conversion was necessary (8.3%) for a complex vascular malformation, and 11 were completed by RATS, including 7 (58.3%) thymomas, 3 (25%) pleuro-pericardial cysts, and one (8.3%) neurogenic tumor. Mean operative time was 141 min (104–178), mean chest tube duration was 0.9 days (0–2), and mean length of stay was 1.45 days (1–2).Thirty-six patients underwent lung surgery (70.6%). The complete RATS resections (34; 94.4%) included: 3 wedge resections (11.1%), 2 segmentectomies (3.7%), 28 lobectomies (81.5%), and one sleeve lobectomy (3.7%). Mean surgery time was 194.56 min (141–247), chest tube duration was 3.92 days (1–8), and length of stay was 4.6 days (1–8). Complications occurred in 4 patients (11.1%). No 90-day mortalities were registered. ConclusionsThe implementation of RATS was achieved with good clinical results and operative times for all indications. A rapid learning curve was accomplished in short time. Previous VATS experience, patient selection, team training and program continuity are fundamental to successfully develop a RATS program.

Starting a robotic thoracic surgery program: From wedge resection to sleeve lobectomy in six months. Initial conclusions

IntroductionRobot-assisted thoracic surgery (RATS) is a rapidly expanding technique. In our study, we aimed to analyze the results of the process to adopt robotic surgery in our Department of Thoracic Surgery. MethodsThis is an intention-to-treat analysis of a series of consecutive patients operated on using the RATS approach in our hospital from January 2021 to March 2022. Data were registered for patient characteristics, type of surgery, operative times, conversion rate, chest tube duration, length of hospital stay and complications.The IBM SPSS® statistical software was used for the statistical analysis. A cumulative sum analysis of the operating time was performed to define the learning curve. ResultsDuring the study period, 51 patients underwent robotic surgery, including pulmonary and non-pulmonary interventions. In addition, 15 patients (29.4%) underwent non-pulmonary interventions: one pleural (2%), 2 diaphragmatic (3.9%), and 12 mediastinal (23.5%). Among the mediastinal surgeries, one conversion was necessary (8.3%) for a complex vascular malformation, and 11 were completed by RATS, including 7 (58.3%) thymomas, 3 (25%) pleuro-pericardial cysts, and one (8.3%) neurogenic tumor. Mean operative time was 141 min (104–178), mean chest tube duration was 0.9 days (0–2), and mean length of stay was 1.45 days (1–2).Thirty-six patients underwent lung surgery (70.6%). The complete RATS resections (34; 94.4%) included: 3 wedge resections (11.1%), 2 segmentectomies (3.7%), 28 lobectomies (81.5%), and one sleeve lobectomy (3.7%). Mean surgery time was 194.56 min (141–247), chest tube duration was 3.92 days (1–8), and length of stay was 4.6 days (1–8). Complications occurred in 4 patients (11.1%). No 90-day mortalities were registered. ConclusionsThe implementation of RATS was achieved with good clinical results and operative times for all indications. A rapid learning curve was accomplished in short time. Previous VATS experience, patient selection, team training and program continuity are fundamental to successfully develop a RATS program.

Clinical and auxological characteristics and quality of life of 50 children and adolescents with segmental overgrowth syndromes at a single center.

Introduction. Segmental overgrowth syndromes are a group of rare diseases characterized by overgrowth in one or more parts of the body, mostly related to mosaic mutations in the AKT/PI3K/mTOR and RAS- MAPK signaling pathway. Our objective was to analyze the clinical and auxological characteristics and health-related quality of life (HRQoL) in this group of patients at a tertiary care hospital. Population and methods. Cross-sectional study of a follow-up cohort. Age, sex, sociodemographic data, anthropometric measurements of the affected and contralateral segments, complications, treatment, quality of life (PedsQL 4.0), and pain were analyzed. Central and dispersion measures were estimated. A univariate analysis between the quality of life and study variables was done. Results. A total of 50 patients were included; 29 were males. Median age: 9.95 (r: 1.44-17.81) years. The most common diagnosis was PIK3CA-related overgrowth spectrum (PROS) (37/50). The median number of affected segments was 2 (r: 1-7) per patient. Vascular malformations were observed in 40, and capillary malformations, in 20 patients. Pain was the most common complication (24/50). An asymmetry of the lower extremities of < 5 cm was observed in 31 patients. In most children, height was between the 50th and 97th percentiles. A lower HRQoL was observed among girls, patients with complex vascular malformations, and those with unmet basic needs (UBNs). Conclusions. PROS was the most common diagnosis. Pain was the most common complication. HRQoL was lower among girls, patients with combined vascular malformations, and those with UBNs.

Genotype–Phenotype and Genotype–Outcome Analysis of Capillary Malformation–Arteriovenous Malformation

Objective(s): Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare autosomal-dominant complex vascular disorder that can be associated with fast-flow vascular malformations (FFVMs). The purpose of this study is to explore the genotype–phenotype and genotype–outcome associations based on a large parallel sequencing of CM-AVM patients to improve the understanding of the development and risk factors for FFVM. Methods: A total of 117 patients with CM-AVMs were enrolled in this multicenter cohort study. All patients underwent detailed clinical phenotyping, including age, sex, capillary malformation (CM) size, with or without FFVM, and outcome (Schobinger stage). Next-generation sequencing was performed with peripheral blood and tissue samples. Genotype–phenotype, genotype–outcome, and phenotype–outcome analyses were performed. Results: Germline or mosaic RASA1 variants were the most common cause of CM-AVM, found in 61.5%, with EPHB4 variants in 32.5%. A total of 76.9% of patients had a dominant CM lesion larger than 5 cm. No obvious correlations between genotypes and phenotypes, including sex, age, location, and size of CMs, were found in this cohort. Comparing the patients with FFVMs with those without FFVMs, we found significant differences in age and the size of dominant CM lesions but not in genotype, sex, or location. Conclusion: CM-AVMs can be categorized as complex vascular malformations caused by different gene alterations in the RAS/RAF/MEK pathway. No obvious correlations between genotypes and phenotypes were identified. Critically, the occurrence and progression of FFVM is strongly determined by phenotypes, including age and the size of the dominant CM, rather than genotypes.

Burdens of disease and caregiver burden in complex vascular malformations.

Vascular malformations (VMs) are rare diseases that affect a wide age range of patients and require complicated care and management. The strain these conditions put on patients and their caretakers is not well understood. This study aims to characterize those burdens in young adult patients and parents of patients with VMs to improve communication, health-related quality of life, and caregiver burden. We performed semi-structured interviews with patients and parents of patients with VMs. Interviews were conducted via telephone or video-call software, recorded, and transcribed. The transcriptions were analyzed to identify burden themes through multiple rounds of codebook development and refinement. The final codebook was applied to all interviews. Twenty-five young adult patients and 34 parent interviews were performed and led to the identification of four primary themes of disease burden that showed up in almost every interview: burdens of the disease process, logistical and financial burdens, psychological and emotional burdens, and social burdens. Persistent uncertainty was prominent and exacerbated all other burdens as well. We found that patients and parents struggle with burdens in a wider breadth of life experiences than have been previously characterized in the literature. They feel stressors of isolation, struggles with their identity, and even traumatic experiences from prior medical encounters. It is critical for providers of these patients and families to be aware of the burdens that they face outside of the immediate medical context. Acknowledging and providing space to address these burdens has the potential to greatly improve therapeutic relationships.

Fibroadipose vascular anomaly: a clinicopathological study of 75 cases.

Fibroadipose vascular anomaly (FAVA) is a complex vascular malformation that is likely to be under-recognised. In this study we aimed to report the pathological features and somatic PIK3CA mutations associated with the most common clinicopathological features. Cases were identified by reviewing the lesions resected from patients with FAVA registered at our Haemangioma Surgery Centre and unusual intramuscular vascular anomalies in our pathology database. There were 23 males and 52 females, who ranged in age from 1 to 51 years. Most cases occurred in the lower extremities (n = 62). The majority of the lesions were intramuscular, with a few disrupting the overlying fascia and involving subcutaneous fat (19 of 75), and a minority of the cases had cutaneous vascular stains (13 of 75). Histopathologically, the lesion was composed of anomalous vascular components that were intertwined with mature adipocytic and dense fibrous tissues and vascular components with: (a) clusters of thin-walled channels, some with blood-filled nodules and others with thin walls resembling pulmonary alveoli; (b) numerous small vessels (arteries, veins and indeterminate channels) - proliferative small blood vessels were often mixed with adipose tissue; (c) larger abnormal venous channels usually irregularly and sometimes excessively muscularised; (d) lymphoid aggregates or lymphoplasmacytic aggregates were usually observed; and (e) lymphatic malformations were sometimes seen as minor elements. All patients had their lessons subjected to PCR, and 53 patients had somatic PIK3CA mutations (53 of 75). FAVA is a slow-flow vascular malformation with specific clinicopathological and molecular characteristics. Its recognition is fundamental for its clinical/prognostic implications and for targeted therapy.

Successful Treatment of Fibro-Adipose Vascular Anomaly with Sirolimus

BackgroundThe purpose of this study was to present our initial experience in using sirolimus therapy to treat fibro-adipose vascular anomaly (FAVA). MethodsWe retrospectively reviewed the medical records of eight patients with FAVA who were treated with sirolimus at our hospital between July 2017 and October 2020. ResultsSix girls (75%) and two boys (25%) were included in the cohort; the average age was 8 years (range, 1–13 years). Vascular tumors developed mainly on the extremities, including the forearm (n = 2; 25.0%), calf (n = 4; 50.0%), and thigh (n = 2; 25.0%). The predominant symptoms included swelling of the lesion (n = 8; 100%), pain (n = 7; 87.5%), contracture (n = 3; 37.5%), and phlebectasia (n = 3; 37.5%). Magnetic resonance imaging was the primary method used for FAVA diagnosis, and all patients underwent enhanced MRI. All lesions were heterogeneous with hyperintense T1 signals. The fat-suppressed T2-weighted images also revealed heterogeneous hyperintense masses, thus indicating fibrofatty infiltration. All eight patients received a sirolimus treatment regimen after FAVA diagnosis. One patient underwent tumor resection but experienced recurrence, whereas the other six patients underwent biopsy. Histological examination revealed that the lesions consisted of fibrofatty tissue with abnormal venous channels and anomalous lymphatic vascular components. Sirolimus softened the masses and caused tumor shrinkage within 5.25 ± 2.6 weeks (range, 2–10 weeks) after treatment initiation. The tumors also involuted rapidly and became stable within 7.75 ± 2.25 months after treatment initiation (range, 6–12 months). All seven patients experiencing pain reported relief within 3.8 ± 1.8 weeks (range, 2–7 weeks) after initiation of sirolimus therapy. Sirolimus alleviated but did not fully resolve the contracture in three patients. Remarkably, five patients exhibited a complete response, and three patients exhibited a partial response. At the time of the last follow-up, three patients had begun to gradually taper off sirolimus after 24 months of treatment and maintained a low blood sirolimus concentration. No serious adverse effects were observed during treatment. ConclusionFAVA is a complex vascular malformation that appears to respond well to sirolimus treatment. Thus, sirolimus may be an effective and safe treatment for FAVA. Level of evidenceLEVEL IV.

Communication with parents and young adult patients affected by complex vascular malformations.

Vascular malformations (VMs) are rare disorders that can cause pain, coagulopathy, disfigurement, asymmetric growth, and disability. Families affected by complex VMs experience misdiagnosis, limited trustworthy information, delayed or inappropriate treatments, and persistent uncertainty. However, more research is needed to understand the communication experiences of these families during clinical encounters. We performed semi-structured interviews with 34 parents of children with VMs (18% men; 82% women; mean age=41years) and 25 young adults with VMs (8% men; 88% women; 4% nonbinary; mean age=29) living in the United States, recruited through four patient advocacy groups. We performed thematic analysis to assess communication experiences, using a previously developed functional model of communication in pediatric oncology as an a priori framework. We identified evidence of eight communication functions previously identified in pediatric oncology: building relationships, exchanging information, enabling self-management, managing uncertainty, responding to emotions, making decisions, providing validation, and supporting hope. Uncertainty was pervasive through participants' experiences and seemed to influence the fulfillment of communication functions. Fewer participants seemed to highlight the role of clinicians in responding to emotions or supporting hope, compared to other communication functions. Interviews with parents and young adult patients with VMs provided evidence for eight functions of communication. While exchanging information and building relationships were described by nearly every respondent, supporting hope and responding to emotions were mentioned less frequently. Future studies should develop patient-reported communication measures to quantify the fulfillment of these functions and to identify areas of communication in need of intervention.

Navigating care for rare diseases: Caregiver and patient advice for families and clinicians managing care for vascular malformations

ObjectiveFamilies affected by rare diseases face many challenges finding adequate care and often report poor communication with clinicians. In the current study, we explore patient and caregiver advice for families and clinicians in the context of complex vascular malformations (VMs), a condition that is frequently misunderstood and misdiagnosed. MethodsWe performed semi-structured interviews with 21 adult patients with complex VMs and 24 caregivers of children with VMs. We analyzed the transcripts using thematic analysis. ResultsParticipants advised patients and caregivers to advocate for care, address mental and emotional well-being, seek social support, and promote self-management and self-care. Participants advised clinicians to show care and concern, show commitment, empower and validate, communicate information clearly, address mental/emotional well-being, acknowledge the broad impact of disease and treatment, acknowledge your limitations, work as a team, and commit to learning. ConclusionParticipants’ advice revealed challenges related to family-centered communication and patient and caregiver quality of life and demonstrated the importance of self-advocacy and social support. Practice implicationsThe result of this study can help newly-diagnosed families overcome challenges related to care and communication. Clinicians can also use the results to support families by offering them our accompanying handout to validate families’ experiences and relay this advice.

Routine use of concurrent fluoroscopic imaging during superficial endovenous interventions: A position statement of the International Union of Phlebology, the Australasian College of Phlebology, the Australia and New Zealand Society for Vascular Surgery, the American Venous Forum, the American Vein and Lymphatic Society, the European College of Phlebology and the Interventional Radiology Society of Australasia.

International evidence-based guidelines recommend preoperative duplex ultrasound mapping in the assessment of chronic venous disease, and concurrent ultrasound imaging to guide superficial endovenous interventions such as endovenous laser ablation, radiofrequency ablation, cyanoacrylate adhesive closure, and sclerotherapy (ultrasound-guided sclerotherapy). Other imaging modalities such as venography, alone or in combination with computed tomography scan or magnetic resonance imaging, may be included in the preoperative assessment of a small and select group of patients to exclude central venous obstruction, certain deep venous pathologies, pelvic origin extrapelvic varices, and complex vascular malformations. The signatory scientific and medical societies recommend against the routine use of fluoroscopy and other radiation-based imaging in the investigation and treatment of superficial venous disease.

Radiomics-based machine learning approach in differentiating fibro-adipose vascular anomaly from venous malformation.

As a complex vascular malformation, fibro-adipose vascular anomaly was first proposed in 2014. Its overlap with other vascular malformations regarding imaging and clinical features often leads to misdiagnosis and improper management. To construct a radiomics-based machine learning model to help radiologists differentiate fibro-adipose vascular anomaly from common venous malformations. We retrospectively analyzed 178 children, adolescents and young adults with vascular malformations (41 fibro-adipose vascular anomaly and 137 common vascular malformation cases) who underwent MRI before surgery between May 2012 to January 2021. We extracted radiomics features from T1-weighted images and fat-saturated (FS) T2-weighted images and further selected features through least absolute shrinkage and selection operator (LASSO) and Boruta methods. We established eight weighted logistic regression classification models based on various combinations of feature-selection strategies (LASSO or Boruta) and sequence types (single- or multi-sequence). Finally, we evaluated the performance of each model by the mean area under the receiver operating characteristics curve (ROC-AUC), sensitivity and specificity in 10 runs of repeated k-fold (k = 10) cross-validation. Two multi-sequence models based on axial FS T2-W, coronal FS T2-W and axial T1-W images showed promising performance. The LASSO-based multi-sequence model achieved an AUC of 97%±3.8, a sensitivity of 94%±12.4 and a specificity of 89%±9.0. The Boruta-based multi-sequence model achieved an AUC of 97%±3.7, a sensitivity of 95%±10.5 and a specificity of 87%±9.0. The radiomics-based machine learning model can provide a promising tool to help distinguish fibro-adipose vascular anomaly from common venous malformations.

Transarterial and transvenous pial arteriovenous Fistula embolization: A video case report.

Cerebral pial arteriovenous fistulas (pAVFs) are rare and complex high-flow vascular malformations found in pediatric and adolescent populations.1 They are often divided into two groups based on the pattern of venous drainage, galenic or nongalenic. Nongalenic pAVFs are typically supratentorial and carry a high risk of rupture. Their angioarchitecture is very complex with various patterns of feeding arteries and draining veins not originating from dural vessels or the vein of Galen.2 The natural history has not been well established; however, mortality estimates range as high 63%.1 Presentations include hemorrhage, seizure, congestive heart failure, and elevated intracranial pressure.3 We describe the case of an adolescent girl with acute onset of headaches that led to the discovery of an occipital, nongalenic pAVF. Transarterial and transvenous embolizations performed during a single procedure resulted in complete obliteration of the fistula. No complications arose, and the patient remained at her neurological baseline.

IV and V grade arteriovenous Malformations: A multicenter surgical experience. Use of multiple grading system to predict surgical risk

ObjectiveThe aim of our study is to report a multicenter experience in the treatment of IV and V grade arteriovenous malformations (AVMs) and to apply commonly used grading scales for surgical risk assessment for these vascular high-grade lesions. MethodsBetween January 2015 and December 2019, a retrospective study was conducted to identify patients undergoing microsurgical intervention for cAVMs at two Italian centers specialized in the treatment of vascular pathologies. Data on patients with Spetzler-Martin IV and V and with a score equal or more than 7 according to Lawton-Young classification were collected. Ruptured AVMs at admission were subsequently classified according to the new proposed AVICH classification. ResultsA total of 20 patients with high grade (IV and V) cAVMs were enrolled in the study and the average follow-up was 36.45 months. The outcome based on mRS was favorable in 65 % of cases. The pre-operative mRS was a factor influencing clinical outcome, as well as the number of bleedings preceding the treatment, age, and nidus characteristics. S-M IV, L-Y 3 and S-M supp 7 scores were associated with good outcome. Based on the AVICH classification, for ruptured cAVMs, having a score of 9 ore less was correlated to a postoperative mRS fewer or equal than 2. ConclusionsSurgical management for high-grade AVMs should be considered in highly selected patients with repeated bleeding or disabling symptoms. Classification systems provide an aid in selecting patients for surgery, also in grade IV and V. It is essential to establish common registers for the management of these complex vascular malformations.

Routine use of concurrent fluoroscopic imaging during superficial endovenous interventions: A position statement of the International Union of Phlebology (UIP), the Australasian College of Phlebology (ACP), the Australia and New Zealand Society for Vascular Surgery (ANZSVS), the American Venous Forum (AVF), the American Vein and Lymphatic Society (AVLS), the European College of Phlebology (ECoP) and the Interventional Radiology Society of

International evidence-based guidelines recommend preoperative duplex ultrasound mapping in the assessment of chronic venous disease, and concurrent ultrasound imaging to guide superficial endovenous interventions such as endovenous laser ablation, radiofrequency ablation, cyanoacrylate adhesive closure, and sclerotherapy (ultrasound-guided sclerotherapy). Other imaging modalities such as venography, alone or in combination with computed tomography scan or magnetic resonance imaging, may be included in the preoperative assessment of a small and select group of patients to exclude central venous obstruction, certain deep venous pathologies, pelvic origin extrapelvic varices, and complex vascular malformations. The signatory scientific and medical societies recommend against the routine use of fluoroscopy and other radiation-based imaging in the investigation and treatment of superficial venous disease.

Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth

Mosaic PIK3R1 variants have recently been demonstrated in patients with complex vascular malformations and overgrowth in a syndrome resembling PIK3CA-related overgrowth syndrome (PROS). The PIK3CA-inhibitor, alpelisib, seems to be a promising treatment option for PROS patients. We describe a young boy with overgrowth and a pathogenic mosaic variant in PIK3R1; c.1699A > G, p.(Lys567Glu). He was prenatally suspected of a syndrome on the presence of unusual transient fluctuating subcutaneous edemas and lymphedema of his left shoulder. The pathogenic variant, later found to be causative, was below detection threshold in whole-genome sequencing (WGS) analysis of amniotic fluid. Upon delivery a mosaic pathogenic PIK3R1 variant, was identified by whole-exome sequencing (WES) of a skin biopsy. With no proven treatment options available, and based on the theoretical disease mechanism, alpelisib therapy was initiated at nine months of age. In the first year of treatment growth normalized and the affected vascular and lymphatic tissue regressed. No side effects have been observed. This report underlines the importance of early variant detection in children suspected of having severe mosaic overgrowth, and proves that prenatal diagnosis is possible, enabling prompt treatment. Furthermore, it demonstrates the promising effects of alpelisib in this patient group.

Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives

BackgroundComplex vascular malformations (VMs) are rare disorders that can cause pain, coagulopathy, disfigurement, asymmetric growth, and disability. Patients with complex VMs experience misdiagnosis, delayed diagnosis, delayed or inappropriate treatments, and worsened health. Given the potential consequences of delaying expert care, we must identify the factors that impede or facilitate this access to care.ResultsWe performed semi-structured interviews with 24 parents (21 mothers; 3 fathers; median age = 42.5 years) of children with complex VMs and overgrowth disorders living in the US, recruited through two patient advocacy groups – CLOVES Syndrome Community, and Klippel-Trenaunay Support Group. We performed thematic analysis to assess parental perspectives on barriers and facilitators to accessing expert care. We identified 11 factors, representing 6 overarching themes, affecting families’ ability to access and maintain effective care for their child: individual characteristics (clinician behaviors and characteristics, parent behaviors and characteristics), health care system (availability of specialist multidisciplinary teams, care coordination and logistics, insurance and financial issues, treatments and services), clinical characteristics (accuracy and timing of diagnosis, features of clinical presentation), social support networks, scientific progress, and luck and privilege. Additionally, access to information about VMs and VM care was a crosscutting theme affecting each of these factors. These factors influenced both the initial access to care and the ongoing maintenance of care for children with VMs.ConclusionParents of children with VMs report multiple factors that facilitate or impede their ability to provide their child with optimal care. These factors represent possible targets for future interventions to improve care delivery for families affected by VMs.

Combined Endovascular and Percutaneous Embolization in Management of Complex Craniofacial Tumors and Vascular Malformations: Case Reports

Combined Endovascular and Percutaneous Embolization in Management of Complex Craniofacial Tumors and Vascular Malformations: Case Reports

Use of intercostal nerve block for chest wall pain in a patient with CLOVES syndrome

Congenital lipomatous overgrowth, vascular malformations, epidermal nevi and scoliosis/skeletal/spinal anomalies(CLOVES) syndrome is an extremely rare overgrowth syndrome characterized by complex vascular malformations. Management requires aninterdisciplinary approach including debulking operations for tissue overgrowth, embolization therapy for vascular malformations and management of chronic pain due tocongenital and recurrent vascular overgrowth and from scar tissue from surgical interventions. Here, we present a 35-year-old femalewith complex medical history due to CLOVES syndrome, with large vascular malformations on her chest, statuspost debulking/embolization previously and now with continued chronic nociceptive and neuropathic pain, largely due to the recurrent nature of vascular malformations, butnow finding some relief with fluoroscopy-guided intercostal nerve blocks which she never experienced before.