Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay syndrome.

BACKGROUND: Klippel-Trenaunay syndrome (KTS) is characterized by the triad of capillary malformation, venous malformation with or without lymphatic malformation, and limb overgrowth. Patients with KTS have lower scores in general in mental health, physical function, and quality of life than the general population. OBJECTIVE: To determine the prevalence of pain and psychiatric comorbidity in patients with KTS. METHODS: A retrospective review of 410 patients with KTS evaluated during 1976-2012 was conducted to identify the presence of pain, psychiatric comorbidities, and psychosocial stressors. RESULTS: Pain was reported by 260 patients (63.4%) and was associated with any KTS complication (P < .0001) and venous malformations of the lower extremities (P = .0008) and feet (P = .0007). Ninety-five patients had a diagnosed psychiatric condition (23.2%), most commonly depression (15.1%) and anxiety (5.1%). Pain (P = .0016), superficial thrombosis (P = .0269), deep embolic/thrombotic events (P = .0005), gastrointestinal complications (P = .0085), genitourinary complications (P = .0163), and capillary malformation of the hands (P = .0040) were associated with having a psychiatric diagnosis. LIMITATIONS: This is a retrospective study that relied on physician detection and reporting of variables. CONCLUSION: Pain and psychiatric conditions, particularly depression and anxiety, are common in patients with KTS. Awareness of the psychosocial impact of KTS and appropriate screening are important.

Vascular Malformations and Health-Related Quality of Life: A Systematic Review and Meta-analysis.

Importance: Patients with vascular malformations (VAMs) and vascular overgrowth syndromes have lower health-related quality of life (HRQoL) attributable to social stigmatization, poor mental health, severity, and pain. However, the factors that contribute to this decreased HRQoL are not clear. Objective: To perform a systematic review and meta-analysis of studies that used validated HRQoL instruments to compare the HRQoL of persons with VAMs with the US general population. Data Sources: A comprehensive search was performed in MEDLINE, Embase, PsycINFO, CINAHL, and Scopus from 1946 to March 31, 2017, with the consultation of an experienced librarian. Study Selection: All VAM studies with validated HRQoL instruments published in the English language were included. Case reports, review articles, non-English-language publications, and studies about the development of new HRQoL instruments were not included. Data Extraction and Synthesis: Two reviewers assessed studies' eligibility and the risk of bias and performed data extraction. The meta-analysis was performed using the random-effects model. Comparisons of means were performed using the unpaired, 2-sample t test. Main Outcomes and Measures: The outcome was HRQoL. Results: Eleven studies met the inclusion criteria for a total of 692 patients with VAMs. Six studies (320 patients) were included in the meta-analysis, whereas 5 studies were included in the qualitative analysis (372 patients). Those with VAMs had lower 36-Item Short-Form Health Survey scores in bodily pain (mean difference, -11.87; 95% CI, -21.45 to -2.29; I2 = 92%; P = .02) and mental health (mean difference, -6.04; 95% CI, -11.55 to -0.52; I2 = 83%; P = .03) compared with the US general population. Conclusions and Relevance: Patients with VAMs had increased pain and psychosocial distress compared with the US general population. Pain and psychological morbidity are associated with poorer HRQoL and may serve as indicators for quality of life.

Baseline Quality of Life in patients with Klippel-Trenaunay syndrome.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Psychological aspects of the Klippel-Trenaunay syndrome.

This article discusses a Dutch questionnaire survey of 60 adult patients and 37 children with Klippel-Trenaunay syndrome (KT), a triad of congenital anomalies characterized by a vascular nevus, varicose veins and bony and soft-tissue hypertrophy. This is the first study known that focuses on the psychological impact of KT. Slow deterioration was found in 40% of adult patients. About 70% report slightly moderate to serious limitations in their daily functioning. Problems in the doctor-patient relationship, as well as psychological problems related to KT, are described. Of the children with KT 75% of the parents report that the condition is stable; 58% of the parents do not report any daily limitations. It is concluded that patients in worse health are suffering from the negative impact and psychological influences of KT. At present an optimal, caring doctor-patient relationship is suggested as the best treatment in some cases for KT.

[Sturge-Weber-Dimitri syndrome associated with Klippel-Trenaunay syndrome]. / Síndrome de Sturge-Weber-Dimitri asociado al síndrome de Klippel-Trenaunay.

A 15 year old boy with congenital angiomatosis showing associated features of Sturge-Weber-Dimitri and Klippel-Trenaunay syndromes is presented by the authors. Some peculiar characteristics are commented in the article.