Persistent or chronic intestinal ischemic injury (i3) can lead to severe malnutrition and acute mesenteric ischemia. Although recommended, revascularization of splanchnic arteries is sometimes ...unrealizable.
We report a case series of iloprost use in consecutive stable patients with persistent i3 unsuitable for revascularization followed in a tertiary care center. The feasibility of revascularization was discussed and ruled out by a multidisciplinary team, and informed consent was obtained prior to consideration of a vasoactive therapy. Therapeutic response was defined at 6 months by a decrease in the use of analgesic and parenteral nutrition, and no need for intestinal resection.
Between 2006 and 2015, 6 patients (mean age: 51) were included. Splanchnic vascular insufficiency was due to superior mesenteric artery (SMA) thrombosis (n = 4), dissection of the celiac trunk and SMA (n = 1), or repeated vasospasm resulting in chronic nonocclusive mesenteric ischemia (n = 1). Iloprost was delivered via continuous intravenous perfusion at a maximum dosage of 2 ng/kg/min for 6 hours/day on 4 consecutive days, without severe adverse events. Therapeutic response was observed in 4 patients, 3 of which completely stopped parenteral nutrition and analgesic with no need for intestinal resection.
Our results are consistent with findings of a favorable effect of iloprost in patients with persistent splanchnic ischemia that should be confirmed in prospective trials.
Hereditary factor XI deficiency is a mild bleeding disorder, which is highly prevalent among Ashkenazi Jews, but has been reported in all populations. In Ashkenazi Jews, two factor XI gene mutations ...Glu 117X (type II) and Phe283Leu (type III) are particularly common. In other ethnic groups, factor XI deficiency is a rare bleeding disorder and is related to a variety of mutations throughout the factor XI gene. Three cases of quantitative factor XI deficiency in relation with four novel missense mutations are reported: a compound heterozygosity for two novel mutations (Ala 181 Val and Ala 412 Thr) with a severe factor XI deficiency and two missense mutations (His 388 Pro and Trp 407 Cys) in heterozygous patients with partial factor XI deficiency.
Despite several recent international guidelines, no consensus exists on the bleeding risk nor haemostatic parameter thresholds that define the safety of invasive procedures in patients with ...cirrhosis. The aim of this study was to establish a position paper on the bleeding risk associated with invasive procedures in patients with cirrhosis among the experts involved in various guidelines.
All experts involved in recent guidelines on the management of invasive procedures in patients with cirrhosis were invited to classify 80 procedures as "high risk" or "low risk" with respect to bleeding. Procedures were considered high risk when the estimated risk of major bleeding was 1.5% or more, or when even minor bleeding might lead to significant morbidity or death. The experts were also asked to choose safety thresholds for laboratory test values at which elective invasive procedures could be safely performed. The predetermined threshold considered as “consensus” was ≥75% agreement.
Fifty-two experts participated in the study. Out of 80 procedures, a consensus opinion was reached for 52 procedures (65%): 17 procedures were classified as “high risk”, primarily interventional endoscopic procedures, percutaneous organ biopsies, or procedures involving the central nervous system; and 35 as “low risk”, primarily “diagnostic” procedures. The lowest platelet counts at which performance of a low-risk procedure or a high-risk procedure/surgery were deemed acceptable were 30 × 109/L and 50 × 109/L, respectively. Experts did not believe that international normalised ratio should be considered before performing low-risk procedures; 71% also indicated that it should not be considered before performing high-risk procedures.
This experience-based classification may be helpful to refine future study designs and to guide clinical decision making regarding invasive procedures in patients with cirrhosis.
Several risk classifications and management guidelines for invasive procedures in patients with cirrhosis have been proposed, but with conflicting recommendations. By providing a position paper, based on the opinion of a broad panel of experts, on the bleeding risk associated with 52 invasive procedures in patients with cirrhosis, this survey will help to provide a framework for future study design. The consensus on platelet count, international normalised ratio, fibrinogen and activated partial thromboplastin time identified in this survey will inform physicians regarding the laboratory test values considered acceptable by the experts prior to the performance of an elective invasive procedure in patients with cirrhosis.
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•This position paper surveyed 52 experts on bleeding risk associated with 80 procedures.•17 procedures were classified as high risk and 35 as low risk.•Low-risk procedures were primarily categorized as “diagnostic”.•Lowest acceptable platelet counts for low-risk and high-risk procedures were 30x and 50 × 109/L, respectively.•International normalized ratio should not be considered before performing low-risk or high-risk procedures.
Factor XI (FXI) deficiency is a rare coagulation disorder associated with bleeding of variable severity but without a clear relationship between bleeding and FXI levels. This study reports the ...molecular genetic analysis of FXI deficiencies in thirteen patients. Six novel missense mutations were identified: P23L, P69T, C92G, E243D, W497C and E547K.
In order to identify unknown mutations, the FAMA method was used to rapidly screen the fibrinogen chain genes in individuals with dysfibrinogenemias. Chemical cleavage at mismatches on heteroduplexes ...DNA end-labeled with strand-specific fluorescent dyes reliably detects sequence changes in DNA fragments of up to 1.5 kb and locates them precisely. This method was successfully used for the detection of three new dysfibrinogenemias: Poissy III, Tahiti (heterozygous Aα Arg16His) and Saint-Germain I (heterozygous AαGly12Val). The mutations were confirmed by dideoxy sequencing.
Double heterozygosity for factor V R506Q and prothrombin G20210A mutations was identified in a 24-year-old man with beta-thalassemia major. The patient experienced a first thrombotic event at the age ...of 19 years and three recurrent thromboses in a short time interval, the third occurring while the patient was receiving long-term anticoagulant treatment. This case suggests that patients with major thalassemia and congenital thrombophilic mutations need intensive and long-lasting anticoagulant treatment. Thus, even if thrombotic events could be explained by a hypercoagulable state observed in patients with major thalassemia, after a first thrombotic event has occurred these patients should be screened for acquired and congenital thrombophilia.
