Detection of varicose vein recurrence by duplex ultrasound: intra- and interobserver reproducibility.

In a long-term follow-up study comparing saphenofemoral ligation and stripping with endovenous laser ablation, the groin is examined yearly by duplex ultrasound (DUS) to detect postoperative varicose vein recurrence. Clear criteria are needed for the uniformity of DUS observations. Physicians taking care of the follow-up were evaluated by an intra- and interobserver analysis. DUS films of 22 patients with no recurrence and 22 patients with recurrence of varicose veins were twice interpreted in two sessions. Observations were analysed by a kappa test. Interpretations of DUS by experienced observers show a kappa >7. Improved kappa results were measured over time in our physician in training. In conclusion, the reproducibility of DUS studies performed by the experienced observers of the study is excellent.

Randomised controlled trial comparing sapheno-femoral ligation and stripping of the great saphenous vein with endovenous laser ablation (980 nm) using local tumescent anaesthesia: one year results.

OBJECTIVES: Comparison of sapheno-femoral ligation and stripping (SFL/S) versus endovenous laser ablation (EVLA, 980-nm) in the treatment of great saphenous vein (GSV) insufficiency, using local tumescent anaesthesia. DESIGN: Randomised, single centre trial. MATERIALS AND METHODS: Patients with GSV incompetence and varicose veins were randomised to either SFL/S or EVLA. At days 1, 2, 3, 7, 10, and 14 post-treatment, patients completed questionnaires on pain and quality of life. Recurrent varicose veins were evaluated by Duplex ultrasound (DUS) performed at 1 and 6 weeks, and 6 and 12 months. RESULTS: 130 legs in 121 patients were treated by SFL/S (n=68) or EVLA (n=62). Significantly more post-treatment pain was noted after EVLA at days 7, 10 and 14 (p<0.01; p<0.01; p=0.01), more hindrance in mobility at days 7 (p<0.01) and 10 (p=0.01), and in self care (p=0.03) and daily activities (p=0.01) at day 7 compared to SFL/S. DUS at 1-year follow-up showed 9% recurrences (5/56) after EVLA and 10% (5/49) after SFL/S. CONCLUSION: Both SFL/S and EVLA, using local tumescent anaesthesia, were well tolerated, with no difference in short-term recurrence rate. In the second week after EVLA, patients experienced significantly more pain resulting in restricted mobility, self care and daily activity compared to SFL/S.

Genome-wide linkage in three Dutch families maps a locus for abdominal aortic aneurysms to chromosome 19q13.3.

OBJECTIVES: Elucidation of the genetic background of familial abdominal aortic aneurysm (AAA) suggests a genetic etiology. METHODS AND RESULTS: We carried out a genome-wide scan in three Dutch families with four or five affected siblings. Suggestive loci were further studied by subsequent fine mapping of the locus performed in 101 affected sib-pairs. The genome-wide scan was performed with 400 DNA markers and results were given as non-parametric, multipoint linkage scores (NPL). We observed a suggestive linkage for AAA (NPL score 3.25 at D19S902, 72.72 cM) on chromosome 19q in the three families. After fine mapping on chromosome 19, the NPL score became nominal in the 101 affected sib-pairs. A separate analysis of the three families with fine mapping revealed a peak with significant evidence for linkage (NPL score 3.95 at D19S904, 78.08 cM) on chromosome 19q. This peak was situated to the right compared to the region found in a previously published article for familial AAA on chromosome 19q. CONCLUSIONS: Our results identified a candidate locus in three Dutch families with AAA at chromosome 19q13.3. Separate analysis of these three families provides evidence for genetic heterogeneity.

Genetic linkage of candidate genes in families with abdominal aortic aneurysms?

OBJECTIVES: to examine possible involvement of several candidate genes in the aetiology of familial abdominal aortic aneurysm (AAA). DESIGN: after reviewing the literature on the genetics of familial AAA, betaine homocysteine methyltransferase (BHMT), collagen type Ialpha2 (COL1A2) and cathepsin H (CTSH), were selected as potential candidate genes, which influence structure, strength, elasticity and mechanical resistance of the aortic wall. MATERIALS: forty-eight families with 110 family members and AAA were included in the affected sib-pair analysis. One large family of three generations was analysed separately because in this family also other clinical symptoms were involved. METHODS: genetic linkage analysis was performed with DNA markers in the region of BHMT, COL1A2 and CTSH. RESULTS: In the overall sib-pair analysis, the LOD scores for BHMT, COL1A2 and CTSH were 0.7, 0.2 and -0.7, whereas in the large family these numbers were -0.6, -2.2 and -2.7, respectively. CONCLUSIONS: none of the candidate genes selected showed a suggestive linkage with AAA. Exclusion of the COL1A2 and CTSH genes was possible in the large family that was analysed separately.

Familial abdominal aortic aneurysm: a systematic review of a genetic background.

BACKGROUND: Familial clustering of the abdominal aortic aneurysm (AAA) is clear, 12-19% of AAA patients have one or more first-degree relatives with an aneurysm and 4-19% is detected with ultrasound screening. OBJECTIVES: To review the genetic background of AAA. DESIGN, METHODS AND MATERIALS: Computer searches of the MEDLINE, EMBASE, SUMsearch database and the Cochrane Library and searched reference lists of English language articles concerning the genetics of AAA, candidate gene approach and linkage analysis. RESULTS: Brothers of AAA patients are at high risk to develop an AAA. The candidate gene approach was performed to detect defects in one of the components of the connective tissue, i.e. type I and III collagen, elastin and fibrillin, the inflammatory cell-derived matrix metalloproteinase, there inhibitors, auto-immune components and components related to atherosclerosis. CONCLUSION: These studies give us insight in the pathology but do not lead to the specific genetic factor(s) responsible for (familial) AAA. Considering the supposed autosomal dominant inheritance, a gene mutation in one of the structural proteins of the connective tissue is expected. In the future, linkage analysis may resolve the genetic background of AAA.