ABSTRACT
BACKGROUND: Chronic venous insufficiency (CVI) is an important cause of morbidity in Western countries. The aim of this study is to demonstrate the heredity of CVI, focusing on molecular and genetic aspects of the disease. METHODS: The study depended on the recruitment of informative families, accurate determination of the phenotype of each family member, and blood sample for DNA extraction for genetic analysis. Each family member was invited to attend a vascular consultation. A genealogical tree for each recruited family was composed. Then, a peripheral blood sample for DNA extraction from each member of the recruited families was obtained for genetic evaluation. RESULTS: By the evaluation of genealogical trees, it was evident that CVI segregates, in all families studied, in an autosomal dominant mode with incomplete penetrance. In nine families studied, varicose veins were linked to the candidate marker D16S520 on chromosome 16q24, which may account for the linkage to FOXC2. CONCLUSION: In our study, in families with affected patients with the D16S520 marker, there was evidence of saphenofemoral junction reflux. The fact that there is linkage to a candidate marker for the FOXC2 gene suggests there is a functional variant within, or in the vicinity of, which predisposes to varicose veins. Further studies are necessary to identify genes and mechanism so as to achieve better understanding of the genetic basis of CVI.
Subject(s)
Chromosomes, Human, Pair 16 , Venous Insufficiency/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Chronic Disease , Female , Forkhead Transcription Factors/genetics , Genetic Predisposition to Disease , Heredity , Humans , Italy , Male , Middle Aged , Pedigree , Phenotype , Ultrasonography, Doppler, Duplex , Venous Insufficiency/diagnostic imaging , Venous Insufficiency/physiopathology , Young AdultABSTRACT
BACKGROUND: Venous leg ulcers are responsible for more than half of lower extremity ulcerations, with an overall prevalence ranging from 0.06 to 2% in the general population. METHODS: A total number of 120 patients with chronic venous leg ulcers (CEAP C6), secondary to primary chronic venous insufficiency, were recruited (81 F, 39 M, age range: 50-79, mean age: 64.6). All patients enrolled in this study had wounds that had failed to heal for more than 2 months and were refractory to conventional medical and physical therapy. Sixty patients (group A) underwent skin grafting followed by low-molecular-weight heparin long-term therapy. Sixty patients (group B) underwent skin grafting as sole procedure. The follow-up was of 5 years. RESULTS: At hospital discharge, all patients had healed ulcers. In group A, at 5 years, about 90% of the ulcers remained healed. In group B, at 5 years, about 56% of the ulcers remained healed. CONCLUSIONS: In our experience, long-term treatment with low-molecular-weight heparin seems to have improved early and late results of patients, who underwent reconstructive surgery for chronic venous ulcer; 90% of the ulcers remained healed at 5 years of follow-up. Probably, extracellular matrix-modulating treatments, such as heparin administration, may complete the management strategy for difficult-to-heal or chronic wounds.
Subject(s)
Anticoagulants/administration & dosage , Heparin, Low-Molecular-Weight/administration & dosage , Skin Transplantation , Varicose Ulcer/drug therapy , Varicose Ulcer/surgery , Wound Healing/drug effects , Aged , Chronic Disease , Combined Modality Therapy , Drug Administration Schedule , Female , Humans , Italy , Male , Middle Aged , Time Factors , Treatment Outcome , Varicose Ulcer/pathologyABSTRACT
We report a case of giant cell arteritis manifesting as upper limbs ischemia due to a complete occlusion of the left subclavian artery and a high grade stenosis of the right subclavian artery. We decided to use a combined medical, surgical and endovascular treatment followed by long term treatment with methotrexate. After 4years the patient had no signs or symptoms of relapse. In our personal experience long term treatment with Methotrexate demonstrated a certain efficacy in avoiding relapse of the inflammatory phase and in maintaining stability of results in this kind of disease.
