Klippel-Trenaunay Syndrome Patients Research Articles

Klippel-Trenaunay Syndrome: Employment of a New Endovascular Treatment Technique-Mechanochemical Ablation Using the Flebogrif System.

Background: Klippel–Trenaunay syndrome (KTS) is characterized by a triad of symptoms; varicose veins and venous malformations (VMs), capillary malformations (port-wine stain), and soft tissue and bone hypertrophy. Herein, we retrospectively studied six patients with KTS who underwent treatment with the Flebogrif system and evaluated their outcomes. Methods: Six KTS patients aged 16–22 years who had undergone 18 non-thermal ablations using the Flebogrif system were enrolled. All patients underwent multistage foam sclerotherapy with 3% polidocanol at 3–4-week intervals. Results: Venous clinical severity score (VCSS) analysis showed improvement in the patients’ clinical condition. All patients reported a significant improvement in aesthetic outcomes. One patient presented with recanalization of ablated marginal veins during the 24-month follow-up period. Patients could return to full activity within 7–10 days after the procedure. None of the patients experienced serious systemic complications. Conclusion: The use of the Flebogrif system in treating various forms of chronic venous insufficiency, including in patients with KTS, provides a high success rate with a high closure rate.

Clinical presentation and outcomes after endovascular management in a mixed pediatric and adult Klippel-Trenaunay syndrome population

ObjectiveWe retrospectively studied the clinical presentations and outcomes of endovascular management in a mixed pediatric and adult Klippel-Trenaunay syndrome (KTS) population at a single academic medical center. MethodsWe performed a retrospective study of patients with KTS who had been referred for endovascular intervention after evaluation and diagnosis by a multidisciplinary team at a single academic medical center during a 10-year period. The patient demographics, areas affected, presenting symptoms, previous treatments, imaging modalities, endovascular treatment types, number of treatments, and complications were assessed. The technical and clinical success rates were calculated. ResultsTwenty-six patients with suspected KTS were evaluated. Of these 26 patients, 20, aged 2 to 75 years, had been diagnosed with KTS using the International Society for the Study of Vascular Anomalies criteria and referred for endovascular management. The left lower extremity was affected most often. The presenting symptoms were pain (80%), edema (70%), bleeding (10%), numbness (25%), and claudication (25%). Of the 20 patients, 16 (80%) had undergone treatment of KTS before presenting to our institution. Magnetic resonance imaging and ultrasound (US) were the most common imaging modalities. Fifteen patients underwent 46 endovascular treatments during the study period. The treatments included 5 endovenous ablations only, 4 US-guided sclerotherapies with endovenous ablation, 5 US-guided sclerotherapies only, and 32 catheter-directed venograms with additional interventions. Localized intravascular coagulopathy was the only procedure-related complication and occurred in one patient after three treatments. The technical success rate was 97.8%, and the clinical success rate was 100%. ConclusionsEndovascular intervention is safe and effective for KTS patients for whom conservative management has failed. Pain and edema were the most common presenting symptoms. Presenting symptoms may be related to pathology of anomalous veins, orthotopic superficial veins or deep veins. Venous claudication can be present in those with KTS despite patency of the deep venous system. Magnetic resonance imaging and duplex US are frequently used modalities for venous assessment. The complications of endovascular treatment are rare but include localized intravascular coagulopathy.

Spinal Neurovascular Malformations in Klippel-Trenaunay Syndrome: A Single Center Study.

A number of studies have demonstrated spinal anomalies associated with Klippel-Trenaunay syndrome (KTS). To date, there are no large consecutive series examining the prevalence and subtype distribution of spinal neurovascular malformations in patients with KTS. To report the spectrum and incidence of spinal neurovascular manifestations in the KTS population. This was a cross-sectional study. Consecutive patients with definite KTS as defined by International Society for the Study of Vascular Anomalies criteria who underwent spinal neuroimaging at our institution were included. All studies were evaluated by a staff neuroradiologist and a senior radiology resident for the presence of developmental venous anomalies, cavernous malformations (CMs), and arteriovenous shunts (AVS). A total of 116 patients with definite KTS who underwent spinal neuroimaging were included. A total of 23 neurovascular anomalies were found in 19 patients (16.4%), including 4 patients with multiple anomalies. These included 5 patients with spinal cord CMs (4.3%), 14 patients with a paraspinal or epidural venous malformation (12.1%), and 4 patients with an AVS (3.4%). Of the AVS, 3 were epidural arteriovenous fistulas, 1 of which likely formed de novo in an epidural venous malformation. One was a conus medullaris arteriovenous malformation. Our study cohort of 116 KTS patients demonstrated a wide spectrum of spinal neurovascular anomalies with a relatively high prevalence. Potential phenotypic descriptions of KTS should include the possibility for spinal neurovascular anomalies.

Nosological Consideration of Arterial Aneurysms Associated with Klippel-Trenaunay Syndrome.

Klippel–Trenaunay syndrome (KTS) is a rare slow-flow combined vascular malformation characterized by capillary-lymphatic-venous lesions with soft tissue overgrowth of the limbs. We report the case of a 37-year-old female KTS patient with a deep femoral arterial aneurysm. We finally diagnosed that the aneurysm had resulted from a fundamental defect in the arterial wall structure. We discuss whether the use of “aneurysm associated with KTS” is accurate and how to better classify this type of capillary-venous lesion in 17 reported KTS patients with arterial aneurysms. In this review, we describe nosological problems of arterial aneurysms associated with KTS.

The anatomic distribution of isolated and syndrome-associated port-wine stain.

To determine the role of sex in port-wine stain (PWS) distribution and describe the epidemiologic and anatomic differences between syndrome-associated and non-syndrome-associated PWS using modern criteria. A retrospective review of PWS patients aged 18years and younger from 1995 to 2018 seen in the Department of Dermatology at an academic tertiary referral center. Cases were reviewed for sex, anatomic location, and presence of associated syndrome. 4,527 records were reviewed on the basis of ICD billing codes for congenital vascular malformations, with 516 meeting inclusion criteria. 516 patients were included in the analysis: 234 (45.4%) men and 282 (54.6%) women. A female preponderance of Sturge-Weber syndrome (18 of 23, 78%, P=.03) and a trend toward more female-isolated PWS (149 of 269, 55%, P=.72) were found. No lateral predominance observed for isolated PWS was found: 112(41.6%) limited left-side lesions and 113(42%) limited right-side lesions (P=.41). A trend toward Klippel-Trenaunay syndrome (KTS)-associated PWS occurring more commonly isolated to the left side (76 (45.5%) vs 59 (35.12%) P=.29) was found. Nine percent of SWS patients had a PWS on the body. Five percent of KTS patients had a facial PWS. The lower limb was the most common location overall of body PWS with 33.8% of isolated PWS and 81.5% of KTS patients having a lower limb lesion. Female children were more likely to be diagnosed with SWS, and a trend toward more isolated PWS in women was found. No lateral predominance of isolated PWS was found, but KTS-associated PWS was more common on the left. A considerable proportion of lesions do not appear in anatomic locations traditionally considered typical in the setting of associated syndromes, which underscores the importance of conducting a complete physical examination and adhering to diagnostic criteria for those syndromes.

Three cases with Klippel-Trenaunay syndrome and treatment options

Klippel-Trenaunay syndrome (KTS) is a rare congenital anomaly characterized by capillary malformations, soft tissue and bone hypertrophy and varicosities. The presence of at least two of the three clinical conditions is sufficient for the diagnosis of KTS. Early diagnosis and treatment are important because of possible serious complications such as deep vein thrombosis and pulmonary embolism. Venous system aplasia and/or hypoplasia might be observed in KTS. Therefore, deep venous system must be evaluated definitely before determining the treatment strategy. It's herein presented our conservative and surgical treatment applications in three KTS patients.

Endovascular laser ablation: minimally invasive intervention for klippel trenaunay syndrome

Klippel Trenaunay syndrome (KTS) is a complex congenital malformation that may affect the lower or upper extremities or, less commonly, involve the trunk, head, or neck. The three main components of KTS are varicosities and venous malformations (VMs), capillary malformations (port-wine stains), and hypertrophy of the soft tissue and bone. Management of varicosities in KTS patients is generally conservative. The role of endovascular therapy and minimally invasive intervention has not been widely practiced due to the low prevalence of the disease, but is preferred over open surgery, especially when non operative management is refractory. This case report is aimed to describe our minimally invasive procedure, Endovascular laser ablation for treatment of Klippel Trenaunay Syndrome. A female, 24 years old came to hospital with chief complaint of swelling and pain on her leg. She was diagnosed with Klippel Trenaunay Syndrome and we performed Endovascular Laser Ablation to manage her varicosities. Endovascular laser ablation is one of the semi-invasive interventions of persistent embryonic vein or great saphenous vein that is currently popular with high success rate.

The Klippel-Trenaunay Syndrome

The Klippel-Trenaunay Syndrome (KTS) includes congenital, low flow vascular malformation(s) that leads to structural and functional anomalies of the vascular system characterized by variability of presenting symptoms and often unpredictable clinical course. Traditionally described pathognomonic triad of findings in KTS patients are capillary malformation, venous malformation, and bone and/or soft tissue hypertrophy. KTS frequently includes the presence of lymphatic malformation(s), as well. Historically, the management of KTS was hampered by the lack of understanding of underlying hemodynamics and pathophysiology responsible for development and progression of KTS symptoms, confusing nomenclature which characterized majority of the early literature discussing KTS, as well as by the absence of established guidelines for KTS management. A relatively recent advancement in the diagnostic and treatment modalities have resulted in better understanding of the pathophysiology and natural history of KTS and represents a fertile environment for improved management of these patients. Multidisciplinary approach and diagnostic algorithm utilized to distinguish vascular malformations from vascular tumors, arterio-venous lesions from low flow vascular malformations have been validated as clinically applicable for making an accurate anatomical and hemodynamic assessment of the lesions found in KTS and serve as a basis for proper treatment selection. It has to be emphasized that treatment of majority KTS patients is palliative and goal oriented. In this manuscript we describe diagnostic protocols and therapeutic algorithms which results in favorable outcomes with an acceptable complication rates in the management of this frequently challenging patient population.

Clinical Experience of the Klippel-Trenaunay Syndrome.

BackgroundThe Klippel-Trenaunay syndrome (KTS) is characterized by three clinical features, namely cutaneous capillary malformations, venous malformations, and soft tissue and/or bony hypertrophy of the extremities. The varied manifestations are attributed to the unpredictable clinical nature and prognosis of the syndrome. To elucidate the clinical characteristics of this disease, we reviewed a relatively large number of KTS patients who presented to our vascular anomalies center.MethodsWe conducted a retrospective study with 19 patients who were diagnosed with KTS and treated in our vascular anomalies clinic between 2003 and 2014, and examined their demographic characteristics, their clinical features, and the treatments administered.ResultsThe sex distribution was balanced, with 9 (47%) males and 10 (53%) females. The mean follow-up period was 4.1 years (range, 7 months-9 years). Most of the patients received conservative treatments such as medication or physiotherapy. Compression therapies such as wearing of elastic garments/bandages were also administered, and surgical interventions were considered only when the patients became excessively symptomatic. Other treatments included laser therapy and sclerotherapy, and all the treatments were adjusted according to each case, tailored to the conditions of the individual patients.ConclusionsKTS is an extremely rare, multifactorial disorder that induces widely varied symptoms. Because of this unique feature, plastic surgeons, when not careful, tend to attach a one-sided importance to typical symptoms such as limb hypertrophy or capillary malformation and thus overlook other symptoms and clinical features. KTS can be suspected in all infants who show capillary malformations or limb hypertrophy and require a multi-disciplinary approach for comprehensive management.

Surgical treatment of varicose veins and venous malformations in Klippel-Trenaunay syndrome.

Klippel-Trenaunay syndrome (KTS) is a mixed mesenchymal malformation characterised by varicose veins, venous and capillary malformations, and hypertrophy of soft tissue and bone. The purpose of this study was to evaluate the surgical outcomes in KTS patients to provide standards for comparison with endovenous therapy. The clinical data of consecutive patient with KTS who underwent open venous surgical treatment between January 1987 and December 2008 were reviewed. Demographics, clinical presentation, operative data, and clinical outcomes were recorded. Follow-up information was obtained from the medical records, mailed questionnaires and phone calls. Descriptive statistics, the Kaplan-Meier method and Log-rank statistics were used where appropriate. Twenty-seven females and 22 males, (mean age 26.5 years, range 7.7-55.8) were included in this study. All had varicose veins, 36 (73%) had limb hypertrophy, and 33 (67%) had capillary malformations, with two of three clinical features present in all. The most frequent symptom was pain (N = 43, 88%). Forty-nine patients underwent operations on 53 limbs. Stripping of the GSV, small and accessory saphenous and lateral embryonic veins was performed in 17 (32%), 10 (19%), 9 (17%), and 15 (28%) limbs, respectively. Two patients developed deep vein thrombosis, one had pulmonary embolism (PE), and one patient had peroneal nerve palsy. Freedom from disabling pain at 1, 3 and 5 years was 95%, 77% and 59%, respectively, and freedom from secondary procedures was 78% at 3 years, and 74% at 5 years. At the last follow-up visit, the venous clinical severity score had decreased from 9.48 ± 3.27 to 6.07 ± 3.20 (P < 0.001). In selected symptomatic patients with KT syndrome, open surgical treatment is safe and durable. Three-fourths of the patients remain free of disabling pain at five years, but secondary procedures are required in one-fourth of the patients. These data can serve as standards for comparison of endovenous therapy for KT syndrome.

Hypertension and multiple arterial changes in a child with Klippel Trenaunay syndrome

Klippel-Trenaunay syndrome (KTS) is an inherited disorder which essentially affects the venous system. Arterial malformations accompanying venous pathologies are extremely rare. We report a 10-year-old boy of KTS patient presented with hypertension and renal atrophy who have also multiple arterial (renal, pulmonary and internal carotid) pathologic features. J Clin Exp Invest 2014; 5 (4): 610-613

Endovenous Radiofrequency Thermal Ablation and Ultrasound-Guided Foam Sclerotherapy in Treatment of Klippel-Trenaunay Syndrome

Klippel-Trenaunay syndrome is composed of port-wine stain, limb hypertrophy and varicose veins. The two patients with Klippel-Trenaunay syndrome treated by endovenous radiofrequency thermal ablation and ultrasound-guided foam sclerotherapy of the abnormal veins was conducted. Radiofrequency thermal ablation resulted in successful occlusion of the incompetent anterior accessory great saphenous vein. Moreover, ultrasound-guided foam sclerotherapy showed complete occlusion of the residual veins. At 6 month follow-up, both patients markedly decreased leg symptoms including pain, cramping, limb swelling, and bulging of veins. Radiofrequency thermal ablation combined with foam sclerotherapy is a minimally invasive procedure alternative to the standard invasive surgery and can be the option for saphenous ablation in Klippel-Trenaunay syndrome patients.

The persistent embryonic vein in Klippel–Trenaunay syndrome

Klippel-Trenaunay syndrome (KTS) is a congenital malformation syndrome with prominent vascular anomalies. A persistent embryonic vein (PEV) may be located on the affected leg(s) of patients with KTS. Our understanding of PEVs of the legs is limited and their nomenclature is confusing. The objective of this study was to obtain further insight in the prevalence, nomenclature and etiology of PEVs of the legs in KTS and to propose a standardized description of anomalous leg veins in KTS. We investigated 70 KTS patients for the presence of PEVs (lateral marginal vein, LMV) of the legs by duplex ultrasonography. We performed histopathological analysis of a surgically excised PEV (LMV) of a typical KTS patient, and we conducted an extensive literature study. Duplex ultrasonography showed LMVs in 12/70 (17.1%) patients. The terms used to describe PEVs in the leg are quite variable, while indicating only two types: lateral marginal vein (LMV) and persistent sciatic vein (PSV). The histology of the excised LMV showed remarkable similarity with that of varicose veins found in the general population. In conclusion, the prevalence of LMVs in our KTS cohort is 17.1%. Two PEVs can be found in the legs and we propose nomenclature based on anatomical criteria, thereby using only the terms persistent lateral marginal vein and persistent sciatic vein, combined with the patency of the deep venous system. We hypothesize that PEVs are most likely caused by a genetic defect leading to abnormal venous pattern formation, which is further supported by our histopathological findings.

Endovenous radiofrequency ablation and combined foam sclerotherapy treatment of multiple refluxing perforator veins in a Klippel-Trenaunay syndrome patient

We describe an unusual pattern of venous abnormality and the use of endovenous radiofrequency ablation, using the TRans-Luminal Occlusion of Perforator technique to treat multiple refluxing perforators in a 29-year-old patient with Klippel-Trenaunay syndrome. Klippel-Trenaunay syndrome is a rare congenital anomaly characterised by a triad of features including unilateral limb overgrowth, venous varicosities and capillary malformations of the affected limb. Ultrasound findings demonstrated 22 incompetent perforator veins in the lateral aspect of the patients left leg, communicating with a complex network of large calibre varicosities causing unilateral leg oedema and pain. Staged radiofrequency ablation procedures using the Olympus Celon RFITT (radiofrequency-induced thermotherapy; please see Technical Note) device under local anaesthetic were performed. These procedures were followed with two sessions of foam sclerotherapy. This case report describes the efficacy of this treatment regime and this patient's significantly improved morbidity 18 months after initial treatment.

Functional characterization of Klippel–Trenaunay syndrome gene AGGF1 identifies a novel angiogenic signaling pathway for specification of vein differentiation and angiogenesis during embryogenesis

Specification of arteries and veins is a key process for establishing functional vasculature during embryogenesis and involves distinctly different signaling mechanisms. Vascular endothelial growth factor-A (VEGFA) is required for differentiation of arteries; however, the upstream angiogenic factor for vein specification is unknown. Klippel-Trenaunay syndrome (KTS) is a congenital vascular disease associated with capillary and venous malformations (VMs), but not with arterial defects. We have previously reported that upregulation of angiogenic factor AGGF1 is associated with KTS, but the molecular mechanism is not clear. Here, we show that AGGF1 is involved in establishing venous identity in zebrafish embryos. Overexpression of AGGF1 led to increased angiogenesis and increased lumen diameter of veins, whereas knockdown of AGGF1 expression resulted in defective vasculogenesis and angiogenesis. Overexpression of AGGF1 increased expression of venous markers (e.g. flt4), but had little effect on arterial markers (e.g. notch5). Knockdown of AGGF1 expression resulted in a loss of venous identity (loss of expression of flt4, ephb4 and dab2), but had no effect on the expression of arterial development. We further show that AGGF1 activates AKT, and that decreased AGGF1 expression inhibits AKT activation. Overexpression of constitutively active AKT rescues the loss of venous identity caused by AGGF1 downregulation. Our study establishes AGGF1 as an angiogenic factor with an important role in the specification of vein identity and suggests that AGGF1-mediated AKT signaling is responsible for establishing venous cell fate. We propose that increased AGGF1 expression leads to increased vein differentiation by inducing activation of AKT signaling, resulting in VMs s in KTS patients.

Chronic middle foot pain in a patient with a swollen leg: diagnosis and discussion

Klippel-Trenaunay-Weber or simply Klippel-Trenaunay syndrome (KTS) also known as osteoangiohypertrophy syndrome or nevus vasculosus hypertrophicus is a rare congenital non-inheritable venous disorder of unknown origin. A classical symptom triad of port-wine stain, varicosis, and limb hypertrophy was first described by the two French physicians Maurice Klippel and Paul Trenaunay in 1900 [1]. The etiology of KTS is still not determined. Klippel and Trenaunay speculated that a spinal cord abnormality might be the cause of observed symptoms. Other authors believe that atresia of the deep leg veins or developmental mesodermal defect could be the underlying cause [2]. Current findings suggest that KTS is a result of mutation of an angiogenic factor gene [3]. Diagnosis is usually based on the presence of at least two classic symptoms at birth or in early childhood. Cutaneous manifestations are red to purplish in color and can be found on any part of the body in 98% of patients [4]. They are vascular malformation–ectatic, thin-walled capillaries in the dermis. Varicosis is found in 72% of the KTS-affected population [4]. The deep venous system of an affected limb might also be involved. Of high importance are visceral vascular malformations as they can cause severe hemorrhages. Lymphatic system involvement in the form of malformations is reported in 11% of patients [4]. Jacob et al. found that 67% of KTS patients present with a limb hypertrophy limited to one leg but more limbs and head or trunk might also be involved [4]. In an overwhelming majority of cases, girth and/or length of involved extremity is increased, but decrease of length and width have also been reported [5]. The limb enlargement develops because of soft tissue hypertrophy with or without bone hypertrophy. Associated findings include macrodactyly, syndactyly, and polydactyly [6]. Affected bones are elongated and show cortical thickening. An imaging feature of advanced stages is osteoporotic-like changes owing to intraosseous vascular malformations as seen in our patient [7]. In many patients there is no treatment needed, although compression stockings are recommended for all of them [8]. Skin care is advised to avoid cellulitis. In mature patients with leg length difference of more then 2 cm, surgical shortening of the affected limb might be considered. Superficial as well as deep vascular malformations might be treated by laser therapy, excision, cryotherapy, sclerosis, and ligation. In the presented patient, osteoangiohypertrophy syndrome of left leg has been diagnosed in childhood. Because of chronic foot pain, a radiograph was performed that showed phleboliths, osteopenia of the first to third metatarsal and The case presentation can be found at doi:10.1007/s00256-011-1237-9.

Chronic pulmonary embolism in Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome (KTS) is characterized by vascular malformations and disturbed soft tissue or bony growth, involving one or more extremities. A high incidence of venous thromboembolism (VTE) has been reported in this disorder, along with cases of belated diagnosed chronic thromboembolic (CTE) pulmonary hypertension (CTEPH). We performed a cross-sectional study to investigate the prevalence of CTE in patients with KTS. Those from our KTS patient cohort willing to participate were examined with a sequential diagnostic workup including perfusion scintigraphy, computed tomography, and echocardiography. Of 68 patients, 48 patients participated in the study (median age 43 years; 29 [60%] were female). Eleven patients (23%) had an abnormal perfusion scan result, of whom computed tomographic scanning showed signs of CTE in two patients (4.2%; 95% confidence interval [CI] 1.2%-14%); both patients had a history of VTE. Echocardiography showed no signs of CTEPH in these patients. In total, 23 patients (48%; 95% CI 35%-62%) had a history of superficial vein thrombosis and 8 patients (17%; 95% CI 8.7%-30%) had a history of deep vein thrombosis or pulmonary embolism, which was associated with more shortness of breath. Echocardiography was only performed in patients with CTE. A large proportion of patients with KTS had a history of VTE. The prevalence of CTE in the total KTS cohort, however, appeared less alarming than previously assumed. Based on these results, we suggest that there is only a limited indication for CTEPH screening among patients with KTS. Nevertheless, awareness for CTEPH remains appropriate, especially among patients presenting with shortness of breath and a history of VTE.

Klippel-Trenaunay syndrome: A rare cause of severe headache

Klippel-Trenaunay Syndrome (KTS) is a rare condition characterized by the triad of capillary malformations (port-wine stains), venous malformations, and soft tissue and/or bony hypertrophy. Many patients with KTS have pain of the affected area of the body. We report a unique KTS patient with multiple intraosseous calvarial venous malformations producing severe chronic headaches.

Novel Roles of GATA1 in Regulation of Angiogenic Factor AGGF1 and Endothelial Cell Function

AGGF1 is an angiogenic factor, and its deregulation is associated with a vascular malformation consistent with Klippel-Trenaunay syndrome (KTS). This study defines the molecular mechanism for transcriptional regulation of AGGF1 expression. Transcription of AGGF1 starts at two nearby sites, -367 and -364 bp upstream of the translation start site. Analyses of 5'- and 3'-serial promoter deletions defined the core promoter/regulatory elements, including two repressor sites (from -1971 to -3990 and from -7521 to -8391, respectively) and two activator sites (a GATA1 consensus binding site from -295 to -300 and a second activator site from -129 to -159). Both the GATA1 site and the second activator site are essential for AGGF1 expression. A similar expression profile was found for GATA1 and AGGF1 in cells (including various endothelial cells) and tissues. Electrophoretic mobility shift assay and chromatin immunoprecipitation assays demonstrated that GATA1 was able to bind to the AGGF1 DNA in vitro and in vivo. Overexpression of GATA1 increased expression of AGGF1. We identified one rare polymorphism -294C>T in a sporadic KTS patient, which is located in the GATA1 site, disrupts binding of GATA1 to DNA, and abolishes the GATA1 stimulatory effect on transcription of AGGF1. Knockdown of GATA1 expression by siRNA reduced expression of AGGF1, and resulted in endothelial cell apoptosis and inhibition of endothelial capillary vessel formation and cell migration, which was rescued by purified recombinant human AGGF1 protein. These results demonstrate that GATA1 regulates expression of AGGF1 and reveal a novel role for GATA1 in endothelial cell biology and angiogenesis.

Baseline Quality of Life in patients with Klippel–Trenaunay syndrome

Klippel-Trenaunay syndrome (KTS) is a congenital group of disorders characterised by vascular malformations (capillary malformation (CM), venous malformation (VM), and lymphatic malformation (LM)) and disturbed growth regulation. The burden caused by KTS symptoms can be evaluated using Quality of Life (QoL)-measuring questionnaires. This study aimed to assess the QoL in KTS patients using the Short Form Health Survey Questionnaire (SF-36) and Skindex-29 questionnaires, and to determine three grades of severity (mild, moderate and severe) according to the scores obtained. In addition, we compared the SF-36 results to those of a general Dutch population sample and a selected group of other chronic conditions. KTS patients of the Dutch KTS foundation and of two medical centres answered SF-36 and Skindex-29 questionnaires. Control data of validated Dutch population SF-36 scores and literature-acquired scores for other diseases were available. A total of 78 patients were enrolled, of whom 34 (43.6%) were male; the mean age was 39.3 years (SD: 17.1; range: 12-78 years). The Dutch KTS group scored significantly lower than the general Dutch population on all SF-36 scales except Mental Health and Role Emotional. Furthermore, they scored significantly lower than other medical conditions on the Physical Functioning and Bodily Pain scales. According to the Skindex-29 results, KTS patients fall in the categories - symptoms: severe to very severe; emotions: diminutive to mild and functions: mild. The total score is lower than 40, indicating a negligible negative impact on QoL; however, new cut-off values are being calculated. Classification according to severity is important to educate patients accordingly, predict prognosis and set treatments. Especially in cases of severe KTS, physicians should not only be attentive to the physical aspects but also to the psychological and social aspects of KTS.