APC resistance due to Factor V Leiden is not related to baseline inflammatory mediators or survival up to 10 years in patients with critical limb ischemia.

To prospectively evaluate the potential influence of resistance to activated protein C (APC-resistance) on the initial inflammatory response, amputation rate and survival during 10 years of follow-up in patients with critical limb ischemia (CLI). Two hundred and fifty-six consecutive CLI patients were analyzed for APC-ratio, the Factor V Leiden mutation and inflammatory mediators and then prospectively followed for 10 years. Inflammatory mediators, amputation rate, morbidity and mortality were compared between patients with and without APC resistance. Of the 256 CLI patients, 35 (14 %) were heterozygotes and 2 (1 %) homozygotes for the Factor V gene mutation, whereas 219 (86 %) patients were non-APC resistant. No significant differences were found between APC resistant and non-APC resistant patients regarding inflammatory mediators. Non-APC resistant patients more often had infrainguinal atherosclerosis (172 [79 %] vs 22 [59 %]; p = 0.017). Amputation rate at 1 year did not differ. Furthermore, there were no significant differences between groups regarding 1-, 3-, 5-, or 10-year survival. APC resistance in patients with CLI was not related to inflammatory activity, and had no impact on limb salvage or rate of amputation or long-term mortality. APC-resistant CLI-patients less frequently had infrainguinal arteriosclerosis, however.

Arterial embolism to the upper extremity in a patient with factor V Leiden mutation (APC resistance)--a case report and review of the literature.

Factor V Leiden mutation has emerged as one of the leading abnormalities in inherited blood coagulation disorders, resulting in a markedly increased risk for deep leg vein thrombosis. A 24-year-old woman presented with acute onset of critical ischemia of her left thumb and index finger. Intraarterial angiography revealed an embolus in the distal radial artery and a thrombotic occlusion of the digital artery of the thumb and index finger. Immediate therapy encompassed a selective surgical embolectomy of the distal radial artery followed by a local intraarterial lysis that was continued for 3 days. Additionally, therapeutic anticoagulation and vasodilating drugs (prostaglandin E) were administered. Within 2 days, capillary refill reappeared and the initial loss of sensory function at the tip of the thumb and index finger diminished. A screening test for thrombophilic disorders led to the diagnosis of a heterozygous mutation of factor V (Leiden mutation). Arterial thromboembolic events of factor V Leiden mutation are rare and have to date been described only in the supraaortic and coronary circulation. Therefore, the arterial embolism to the left hand presented in this report constitutes a rarity that could be successfully salvaged by the combined use of a vascular surgical procedure and intensified medical management.

The impact of factor V mutation on the risk for occlusion in patients undergoing peripheral vascular reconstructions.

OBJECTIVE: to determine the impact of Factor V-Leiden on the patency of peripheral vascular reconstructions. DESIGN: prospective, open and consecutive study. METHODS: a total of 775 patients, who were electively admitted between 1995 and 1997 to the vascular ward unit, were prospectively analysed for frequency of Factor V-Leiden mutation and patency of reconstruction (one month and one year). The patients were grouped into carotid, abdominal aortic aneurysm (AAA), renal artery, aortoiliac, infrainguinal, and venous categories according to procedures and anatomical sites. Post-reconstruction complications and associated risk factors were also analysed. RESULT: in infrainguinal patients Factor V-Leiden was seen in 16% of the patients compared with 10% in the controls. (Odds ratio 1.60, CI 0.91-2.81). Hypertension, pulmonary disease and smoking were more frequent in individuals without Factor V-Leiden. Analysing all 775 reconstructions, occlusions were more frequent at one month (14% vs 12%) (p=0.02) in patients with Factor V-Leiden compared with patients without the mutation. Though this trend was also noted few patients having infrainguinal reconstructions, the difference was not significant (37% vs 22% (p=0.15) and 46% vs 27% (p=0.09) after 1 and 12 months, respectively). CONCLUSION: factor V mutation (Factor V-Leiden) was more frequent in patients having occluded vascular reconstructions. Further evaluation is needed.

[Budd-Chiari syndrome--a rare manifestation of hereditary thrombophilia]. / Budd-Chiari Syndrom--eine seltene Manifestation der hereditären Thrombophilie.

Budd-Chiari syndrome is a rare manifestation of hereditary or acquired thrombophilia. We saw a case of Budd-Chiari syndrome in a 30-year-old woman leading to initial diagnostic difficulties. She underwent surgical side-to-side shunt and 9 weeks later an almost normal liver could be demonstrated on computerized tomography. Budd-Chiari syndrome should be considered if the Chiari triad with abdominal pain, hepatomegaly and ascites occurs in a patient. If necessary, invasive diagnostic procedures (e.g. angiography) must be performed. Therapeutic options are anticoagulative therapy and porto-systemic shunt, either as a TIPS or a surgical shunt. If severe liver failure occurs or liver cirrhosis is present, orthotopic liver transplantation is an additional option which also cures hereditary thrombophilia.