Extensive Venous Malformations Research Articles

Obstetric management for pregnant women with Klippel-Trenaunay syndrome: A UK case report and review of the literature.

Klippel-Trenaunay Syndrome (KTS) is a rare congenital vascular disorder characterized by extensive capillary and venous malformations that pose unique challenges during pregnancy. This case report discusses the successful management of a 34-year-old pregnant woman with KTS who had two caesarean sections, resulting in the birth of two healthy babies. Despite the lack of evidence-based guidelines for obstetrical management in KTS, a multidisciplinary team collaborated to devise a high-risk thrombosis management plan, involving the use of compression stocking and low molecular weight heparin prophylaxis. The patient's elevated risk of thrombosis, exacerbated during pregnancy, informed the decision of caesarean sections, aligning with finding that in most KTS pregnancies, this method of delivery based on obstetric indications and arteriovenous malformations is chosen. This case highlights the importance of systematic and patient-centered care, advocating for comprehensive obstetric management guidelines to address the unique challenges posed by KTS during pregnancy. Further research is warranted to enhance our understanding and refine guidelines for individuals with vascular abnormalities linked to KTS.

Repurposing alpelisib, an anti-cancer drug, for the treatment of severe TIE2-mutated venous malformations: Preliminary pharmacokinetics and pharmacodynamic data.

Extensive venous malformations involving limbs severely impact quality of life, mostly due to chronic pain and functional limitations. But patients can also display coagulopathy with associated risks of life-threatening thromboembolism and bleeding. Available pharmacological treatments (e.g., sirolimus) are not universally effective. Novel therapies are urgently needed for patients with treatment-resistant venous malformations. We report three patients with TIE-2 receptor mutations treated with alpelisib for 6 months (daily dosing: 50mg for children weighing<50kg and 100mg for those>50kg). Pain was controlled, gait improved, size of the abnormal venous network decreased, and coagulopathy dramatically improved. Drug exposure was highly variable, suggesting that alpelisib dosing should be individualized to patient's characteristics and guided by therapeutic drug monitoring.

Coagulopathy and related complications following sclerotherapy of congenital venous malformations.

Congenital venous malformations (VMs) are low-flow vascular anomalies that can cause coagulation abnormalities. This phenomenon, referred to as localized intravascular coagulopathy (LIC), is characterized by elevated D-dimer, hypofibrinogenemia, and/or thrombocytopenia. Increased risk for LIC includes patients with an extensive VM, multifocal VM, and Klippel-Trenaunay and CLOVES syndromes. Peri-procedural anticoagulation has been given to prevent complications from LIC in patients undergoing surgical/interventional procedures; however, the rate of clinically relevant complications from sclerotherapy is largely unknown. The purpose of this study is to describe a single-institution's incidence of LIC in patients with VMs and coagulopathy-related complications following sclerotherapy. Retrospective chart review of patients, 0-21years of age, with VM who underwent sclerotherapy without peri-procedural anticoagulation and had coagulation profiles evaluated within 1month prior to sclerotherapy. diagnosis type (high vs. low risk for LIC), coagulation profile (including PT/PTT, D-dimer, fibrinogen, and platelet count), sclerosant used, and post-procedure outcomes. Coagulopathy-related complications included clinically relevant bleeding, deep vein thrombosis (DVT), and pulmonary embolism (PE). N=138 patients; 59.4% were female. The most common location of VM was the lower extremity (47.8%; 66/138). Of patients with high-risk VMs (29/138 [21%]), 11/29 (37.9%) had laboratory values consistent with LIC, whereas 5% (5/109) of low-risk VMs had LIC. In sum, 492 sclerotherapy procedures were performed with no complications of bleeding, DVT, or PE. Patients undergoing sclerotherapy for VM with abnormal coagulation profiles may not require peri-procedural low molecular weight heparin (LMWH). Further studies are needed to precisely define which patients would benefit from anticoagulation.

Total Hip Arthroplasty in Extensive Venous Malformations: An Experience of Four Cases

Background: Extensive venous malformation (VM) (Klippel-Trenaunay syndrome, KTS) and associated degenerative joint disease of the hip is a rare condition. The difficulty of total hip replacement (THR) depends on tissue involvement around the joint, with the risk of severe blood loss. To evaluate the feasibility and outcome of hip replacement in this disease. Methods: Between 2010 and 2020, 4 patients with extensive VM of the limb and degenerative joint disease had a total hip replacement. Investigations included X-ray exams, T2 MRI with fat saturation, and hematologic tests. The main outcome end- points of the study were success of hip replacement, postoperative complications and quality of life. Results: Four patients underwent THR. Le sex ratio was (3 males, 1 female) with a median age of 37 years (range 27-55). All were symptomatic, with worsening hip pain and use of a mechanical aid. MRI identified VM in the muscles and cellular space of the buttock. The choice of surgical approach was anterior in three patients, and lateral in one. Mean blood loss was 1500mL. Surgery was completed by peroperative sclerotherapy to reduce blood loss (3 patients). The median follow-up time was 82 months (range 12- 120). There were no postoperative complications. At 6 months, three patients were walking with normal gait, and one was using an orthopedic walker after knee arthrodesis. There was no reoperation during the follow-up. All patients returned to their professional activities. Conclusion: The difficulty of total hip replacement depends on the extent of involved soft tissue around the hip area. The choice of surgical approach, surgical skill in vascular and orthopedic procedures and per-operative sclerotherapy permit to reduce surgical risk.

The video that demonstrates the three-dimensional rotating projection of the affected extremity showing femoral vein aplasia and extensive venous malformations.

The video that demonstrates the three-dimensional rotating projection of the affected extremity showing femoral vein aplasia and extensive venous malformations.

Multiple Dural Arteriovenous Fistulas in the Superior Sagittal Sinus Region with Reversible Parkinsonism and Urinary Incontinence as Rare Presentations: A Case Report

Background: Dural Arteriovenous Fistula (DAVF), characterized by abnormally direct connections between meningeal arteries and meningeal veins or dural venous sinuses, is a rare subtype among the intracranial arteriovenous malformations. Although the clinical manifestations of DAVF are very variable depending on the locations and size of venous drainage, parkinsonism and urinary incontinence are rarely reported. Here, we present a rare case with parkinsonism and urinary incontinence secondary to DAVF. Case Presentation: A 50-year-old man was admitted for a progressively worsening weakness of his left lower limb over a year with urinary incontinence for four months. Neurological examination revealed rigidity and bradykinesia of the left upper limb without an obvious tremor. Magnetic resonance imaging exhibited diffuse white matter hyperintensities in bilateral centrum semiovale. Cranial magnetic resonance venography revealed extensive tortuous venous malformations. Digital subtraction angiography exhibited multiple bilaterally distributed DAVF in the superior sagittal sinus, supplied by bilateral occipital arteries and superficial temporal arteries. In the one year follow-up, the patient with multiple DAVF bilaterally distributed was completely cured after endovascular treatment according to the symptoms and the follow-up imaging results. Conclusion: This report enriches the clinical presentations of DAVF with parkinsonism and urinary incontinence, which is a crucial diagnostic clue to be aware of the possibility. Moreover, these rare symptoms can be relieved by timely endovascular treatment.

Characteristics, clinical presentation, and treatment outcomes of venous malformation in the extremities

ObjectiveThe clinical presentation of venous malformations (VMs) is variable and not well documented. The present study was designed to determine the clinical characteristics and outcomes in association with the type and extent of VM in the extremities. MethodsPatients with a diagnosis of a VM using ultrasound, computed tomography, or magnetic resonance imaging were included in the present study. The VM extent and tissue involvement, signs, and symptoms were retrospectively collected. Those with arteriovenous malformations, Klippel-Trenaunay syndrome, lymphedema, and symptoms from other unrelated diseases were excluded. The VMs were classified as extensive or localized according to whether different tissues or the entire compartment was involved. The clinical outcomes and imaging studies were obtained for both the treated patients and those who had chosen to not undergo any intervention. ResultsA total of 72 patients, of whom 26 were men, were included in the present study, with a median age of 30 years. The VM had extended into the subfascial space in 40 patients (55.6%). Patients with VM distributed on their leg had mostly experienced pain, which was more evident during physical activity (n = 40; 80.0%), with swelling worsening with prolonged standing (n = 35; 70.0%). For those with VMs in the upper extremities, the most prominent complaints were venous enlargement (n = 10; 45.5%), pain (n = 9; 40.9%), and swelling (n = 11; 50.0%). The symptoms were related to the extent of the lesion (odds ratio, 7.664; 95% confidence interval, 2.006-29.291; P = .003). Treatment was decided by the extent and depth of the lesions. Excision was performed in 15 patients (20.8%), sclerotherapy in 12 (16.7%), sclerotherapy with phlebectomy or coil embolization in 8 (11.1%), and stripping in 2 (2.8%). An excellent result was achieved with the treatment of localized VMs. For those with extensive VMs, the symptom intensity was reduced or controlled after multiple treatments. ConclusionsVMs of the extremities affect patients' quality of life significantly owing their appearance and the resulting pain. The VM extent was associated with symptom severity. The clinical outcomes have been excellent for localized VMs; however, extensive VMs will require multiple treatments to reduce the symptom intensity.

Diffuse Venous Malformations of the Upper Extremity (Bockenheimer Disease): Diagnosis and Management.

Diffuse venous malformations that involve all tissues in the upper limb and ipsilateral chest wall are known as "phlebectasia of Bockenheimer." The authors describe their experience with management of this uncommon vascular anomaly. The authors' Vascular Anomalies Center registry comprised 18,766 patients over a 40-year period. This review identified 2036 patients with venous malformations of the extremities (10.8 percent), of whom only 80 (0.43 percent) had Bockenheimer disease. The authors retrospectively analyzed patient characteristics, diagnostics, treatments, and complications. The venous malformation was first noted at birth or within the first few years of life with slow and gradual progression. Pain was related to engorgement of the limb. Thromboses and phleboliths were common, but diffuse intravascular coagulopathy occurred in only 12 patients (15 percent). Skeletal involvement was demonstrated as lytic lesions, cortical scalloping, osteopenia, and pathologic fractures. Management included compression garments (100 percent), sclerotherapy (27.5 percent), and resection of symptomatic areas in 35 percent of patients. Adjunctive pharmacologic medication was given in 7.5 percent. Following resection, 17 patients (60 percent) had one or more complications: hematoma, wound dehiscence, flap loss, contracture, and psychosis. There were no deaths. Symptoms improved in all patients with useful functional outcomes. The decision to pursue compression, sclerotherapy, pharmacologic treatment, or resection alone or in combination was made by an interdisciplinary team. Although extensive venous malformations cannot be completely ablated, debulking of symptomatic regions, resection of neuromas, and noninvasive treatments improve the quality of life. Despite the bulk and weight of the arm, forearm, and hand, and the ominous appearance on magnetic resonance imaging, these patients remain functional. Therapeutic, V.

MANAGEMENT OF AN AESTHETICALLY DISABLING COMPLEX VULVAR VENOUS MALFORMATION IN A YOUNG WOMAN

Venous malformations (VM) of vulva, perineum and pelvis are uncommon condition which may present with cutaneous varices or aesthetically disabling swelling of external genitalia. Herein, we report a young woman who presented with a large left vulva bluish tinged swelling, progressively increasing in size since birth. Computed tomography of the pelvis and lower limbs confirmed the diagnosis of extensive VM of pelvis and perineum. She underwent selective angiogram which revealed venous malformations of left vulva and gluteal region with no arterial supply to the lesion. Surgical excision was performed but complicated with bleeding which necessitate multimodal hemostatic procedures and blood transfusion. There is no recurrent swelling after 5 years follow up. Surgical excision of vulvar venous malformation offer good cosmetic outcome. However, appropriate planning with axial scan, angiogram and operative technique including multimodal hemostatic measure are important steps to achieve good result with no recurrence. We discussed on challenges on management of this case in relation to the currently available literature.

Novel Approach to Management of Localised Intravascular Coagulopathy in Extensive Low Flow Venous Malformations Using Rivaroxaban

Introduction: Extensive low flow venous malformations, such as Klippel Trenaunay Syndrome (KTS), are rare conditions. Abnormal blood flow in these structures leads to activation of coagulation, sometimes referred to as localised intravascular coagulopathy (LIC). This results in spontaneous, sometimes painful, thrombus formation and fibrinolysis as indicated by raised D-dimer levels.In some cases the LIC can be so severe that it leads to a consumptive coagulopathy with bleeding complications. It is important to assess for this, particularly as many of these patients undergo corrective surgeries. It has been noted that low fibrinogen and, more recently, low FXIII levels correlate with severity of LIC and bleeding risk in these cases while other coagulation factors and platelet counts seem to be unaffected.There is very little published evidence to help with antithrombotic and haemostatic management of these rare and complex patients. Anticoagulation with low-molecular-weight heparin (LMWH) has been used to reduce LIC and consumptive coagulopathy on a case-by-case basis to either manage thrombotic events or reduce bleeding risk. The main issues with long term use of LMWH are that it can result in reduction of bone density and impact on quality of life due to requirement for daily administration of subcutaneous injections. An oral agent would be preferable but vitamin K antagonists, such as warfarin, have been found to be not as effective. Direct oral anticoagulants (DOACs) are being increasingly used as an alternative anticoagulant in more common conditions, such as atrial fibrillation and venous thromboembolism. These could be a potential alternative in this rare group of patients.Aims: We present the use of direct oral factor Xa inhibitor rivaroxaban (off-label) as a novel treatment option for LIC and consumptive coagulopathy in three patients with extensive low flow venous malformations. Serial measurements of D-dimer, fibrinogen and factor XIII levels were used as surrogate markers for the severity of LIC.Methods: Patients managed with rivaroxaban at our tertiary centre were identified retrospectively by the lead consultant. All had a diagnosis of extensive venous malformation with laboratory features of LIC, defined by at least one of the following parameters: high D-dimer levels, low fibrinogen (Clauss), low FXIII levels with the latter only being monitored for the last two years since its clinical significance was realised. Case notes and laboratory results were reviewed.Results: Three patients fulfilled the inclusion criteria (Table 1). Mean age was 29 years. Two cases had KTS, the third had an extensive low flow venous malformation on the back. All cases received prior LMWH. Rivaroxaban (10-20mg once daily) was administered for between 6 weeks and 23 months.In all patients there was an improvement in laboratory parameters (Table 1). D-dimer levels were reduced by 66, 97 and 69% (Cases 1 - 3 respectively). A low fibrinogen increased by 1.1, 0.5 and 0.6 g/L on rivaroxaban (Cases 1 - 3 respectively), with all patients maintaining a level above 1 g/L. Results for FXIII were only available for Case 3: the level more than doubled on rivaroxaban treatment.All patients had a normal platelet count.In addition good clinical response was observed in the two patients with painful phleboliths and venous thromboembolism.No adverse effects were seen in this small cohort.Conclusions: This is the first case series reporting the successful use of rivaroxaban in extensive low flow venous malformations for the management of LIC and consumptive coagulopathy. Our findings suggest that this novel approach can provide good control of laboratory parameters and clinical symptoms and is more convenient for patients. The optimal dose and duration of therapy remains to be defined. In light of these findings other DOACs may also have a role in the treatment of these conditions. [Display omitted] DisclosuresMathias:Bayer: Speakers Bureau. Drebes:Bayer: Consultancy; Bayer: Other: Educational Grant.

Electrochemical treatment: an effective way of dealing with extensive venous malformations of the oral and cervicofacial region

We describe the results of electrochemical treatment of extensive venous malformations in the oral and cervicofacial region in 29 patients. Platinum needles were inserted into the lesions under general or local anaesthesia, the electrode pitch, voltage, current, and quantity of electricity being 1-1.5cm, 5-8V, 40-60mA, and 50-60C/cm2, respectively. Six months after the treatment, 26 patients had been cured, and in the other three the lesions had decreased by more than 75%. Electrochemical treatment is therefore relatively safe, simple, and highly efficient for the treatment of extensive venous malformations, and leaves no scars.

A modified Tessari method for producing more foam.

This study aimed to develop a modified Tessari method for producing more sclerosing foam in treatment of extensive venous malformations. Sclerosing foam was produced by using Tessari method and the modified Tessari method. The procedure of the later was as follows: prepared foam in a sclerosant–air ratio of 1:4; connected three disposable 10 ml syringes to two medical three-way taps; drawn 4 ml of liquid sclerosant into one syringe and 16 ml averagely of air into the other two; then moved the plungers of all syringes back and forth for 20 times to produce sclerosing foam. The volume and foam half time (FHT) of foam produced by the two methods were compared. The average volume of sclerosing foam produced by Tessari method and the modified Tessari method were 9.8 and 19.7 ml, and assessed to have statistical difference. The FHT of foam produced by the two methods were 120 and 150 s, and assessed to have statistical difference. In conclusion, the modified Tessari method could produce more fresh and stable sclerosing foam.

5:09 PM, Abstract No. 317 - Sclerotherapy for extensive venous malformations of the hand

5:09 PM, Abstract No. 317 - Sclerotherapy for extensive venous malformations of the hand

Peripheral venous malformations and pulmonary hypertension: A case report and literature review

Extensive pure peripheral venous malformations are rare. We report occurrence of peripheral venous malformations associated with pulmonary hypertension in a middle-aged male, who had nodular, irregular, soft, compressible, painless, non-pulsatile swellings over dependant positions such as forearms, hands, axilla, and genitalia, with overgrowth of hands and fingers enlarging slowly since early childhood. He had right ventricular failure signs. Plain films showed soft-tissue mass with diffuse calcifications (phleboliths). Doppler study showed low flow vascular channels, compressible hypoechoic lesions along with occasional hyperechoeic lesion corresponding with phleboliths. Magnetic resonance imaging (MRI, T1-weighted) showed polypoidal mass with heterogenous hypo to intermediate signal with no flow voids. T2-weighted MRI showed high-signal intensity mass. Computed tomography (CT) pulmonary angiogram showed pulmonary hypertension, no thrombi or vascular malformation. He was treated with angiotensin-converting enzyme inhibitors, diuretics, amiodarone, antiplatelets, and venous stockings. Specific therapy such as sclerosis and surgical resection could not be done as he was discharged against medical advice.

Pulmonary Arterial Hypertension in Patients With Slow-Flow Vascular Malformations

To determine the prevalence of pulmonary arterial hypertension in asymptomatic patients with 2 types of extensive slow-flow vascular malformations: extensive venous malformations or Klippel-Trénaunay syndrome (KTS). Case-control. Multidisciplinary center for vascular anomalies. A consecutive sample of 32 patients with slow-flow vascular malformations of at least 15% of the body surface was identified retrospectively and matched by age and sex with 32 healthy controls. Standard 2-dimensional transthoracic Doppler echocardiography. Venous samples were obtained the same day that echocardiography was performed. Pulmonary artery systolic pressure (PASP) was determined. Levels of D-dimer, fibrinogen, and von Willebrand factor (vWF) in plasma were measured. Patients had a mean (SD) PASP that was significantly higher than that of healthy controls (42.16 [8.49] mm Hg in patients vs 27.69 [6.54] mm Hg in healthy controls; P < .001). No significant differences in PASP were found between patients with KTS and patients with venous malformations (P = .80). We observed significant differences in the mean (SD) levels of vWF between patients and healthy controls (124.41% [52.28%] in patients vs 92.69% [28.92%] in controls; P = .01) and also in levels of D-dimer (1032.99 [1367.0] ng/mL in patients vs 102.97 [29.39] ng/mL in healthy controls; P < .001). There was a moderate positive correlation between levels of vWF and levels of PASP (r = 0.42; P = .001) and a high positive correlation between D-dimer and PASP (r = 0.52; P < .001) The presence of pulmonary arterial hypertension in patients with extensive slow-flow vascular malformations is not an isolated feature but is relatively frequent. Levels of D-dimer correlate with PASP in these patients.

Chronic localized intravascular coagulation complicating multifocal venous malformations

We present two female children aged 7 years with extensive multifocal venous malformations complicated by chronic localized intravascular coagulation. In both cases ultrasonography and magnetic resonance imaging revealed extensive venous malformations involving the skin, mucous membranes and pharynx, which were not apparent on clinical examination. Haematological investigations demonstrated persistent elevation of the D-dimer, consistent with chronic localized intravascular coagulation. The course of one patient was complicated by the development of multiple painful thromboses at distant sites following percutaneous sclerotherapy. Persistent elevation of the D-dimer occurring in association with large venous and veno-lymphatic malformations has been termed chronic localized intravascular coagulation, and is thought to occur due to thrombosis at sites of stagnant blood flow within venous malformations. It is of clinical concern due to the potential for transformation into serious thrombohaemorrhagic coagulation disorders, including disseminated intravascular coagulation. While previously described in association with large segmental venous malformations, these cases demonstrate the occurrence of chronic localized intravascular coagulation as a complication of disseminated multifocal venous malformations.

Complex Combined Vascular Malformations and Vascular Malformation Syndromes Affecting the Extremities in Children

Complex combined vascular malformations affecting extremities are an interesting group of vascular malformations because, in addition to the vascular channel anomalies present, they can be associated with other tissue changes and sometimes altered limb growth. At present, magnetic resonance imaging is the gold standard imaging tool to evaluate such complex conditions in children because of its inherent tissue specificity and vascular capabilities that enables characterization of tissues and the vascular channel anomalies both for diagnosis and management of the patient. A brief review of some of these conditions is presented, including Klippel-Trénaunay syndrome, Parkes Weber syndrome, extensive diffuse low-flow venous malformations, Bannayan-Riley-Ruvalcaba syndrome, cutis marmorata telangiectatica congenita, Maffucci's syndrome, and Gorham-Stout disease.

Radiologic and Serologic Features of Extensive Venous Malformations Associated with Atrophy, Osteoporosis, and Visceral Involvement

*Department of Dermatology; †Department of Radiology, University Clinic of Navarra, School of Medicine, University of Navarra, Pamplona, Spain Address correspondence and reprint requests to: Pedro Redondo, MD, Department of Dermatology, University Clinic of Navarra, 31008 Pamplona, Spain, or e-mail: [email protected] The authors have indicated no significant interest with commercial supporters.

Radiologic and Serologic Features of Extensive Venous Malformations Associated with Atrophy, Osteoporosis, and Visceral Involvement: Implications for Future Management

Radiologic and Serologic Features of Extensive Venous Malformations Associated with Atrophy, Osteoporosis, and Visceral Involvement: Implications for Future Management

Association of Localized Intravascular Coagulopathy With Venous Malformations

To determine which venous malformations (VMs) are at risk for coagulopathy. Venous malformations are slow-flow vascular malformations present at birth, and localized intravascular coagulopathy (LIC) causes pain and thrombosis within a lesion and severe bleeding during surgical procedures. Prospective convenience sample accrued from 2 multidisciplinary sites in Brussels, Belgium, and Caen, France. The study population comprised 140 patients with clinical data and coagulation parameters. Magnetic resonance imaging was performed for 110 patients. Measurement of D-dimer levels. Of the 140 participants, 59 (42%) showed high D-dimer levels, 36 (61%) of whom had levels higher than 1.0 microg/mL. Six of the participants had low fibrinogen levels. In univariate analysis, large surface, presence of palpable phleboliths, and truncal localization were associated with high D-dimer levels. In the multivariate analysis, only large surface area and presence of phleboliths remained independently associated with high D-dimer levels. Severe LIC, characterized by concomitant low fibrinogen level, was associated with extensive venous malformations of the extremities. Localized intravascular coagulopathy is statistically significantly associated with large and/or deep venous malformations that affect any location, which can have a palpable phlebolith. These patients are at risk of local pain due to thrombosis. Lesions with elevated D-dimer levels associated with low fibrinogen levels (severe LIC) commonly affect an extremity and have a high risk of hemorrhage. Low-molecular-weight heparin can be used both to treat the pain caused by LIC and to prevent decompensation of severe LIC to disseminated intravascular coagulopathy.