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Biomedical subjects

A Girolami

Publications and source records attributed to A Girolami.

At least 19 recordsLinked to original sources
PubMed2006

Congenital combined defects of factor VII: a critical review.

Factor VII deficiency is the least rare among uncommon congenital coagulation disorders. The majority of cases are isolated deficiencies. In some cases, FVII deficiency has been found to be associated with the deficiency in another coagulation factor or with non-coagulation-related abnormalities or defects. The evaluation of all published studies on the subject has shown that the FVII defect has been reported in association with FV, FVIII, FIX, FX, FXI and protein C defects. Furthermore, FVII deficiency has been described in association with bilirubin metabolism disorders, mental retardation, microcephaly, epicanthus, cleft palate and persistence of ductus arteriosus. The most interesting association appears to be that with FX. This has been shown to be due to a deletion in part of the long arm of chromosome 13. This arm contains genes coding for both FVII and FX. Interestingly, this combined coagulation defect has been found to be associated with carotid body tumors and several other malformations. Combined defects in blood coagulation often create diagnostic difficulties since results cannot be explained if a single factor deficiency is assumed. For example the combined FVII and FX defect yields a rather peculiar laboratory picture (prolonged prothrombin time and partial thromboplastin time, but normal thrombin time) that could suggest FII or FV or FX single deficiency and not FVII deficiency, indicating the need for specific factor assays whenever data are confusing. Finally, the elevated incidence of mental and skeletal malformations present in these combined defects indicates the need for a careful evaluation of all these patients lest some aspects of the defect are missed.

Adolescent↗
PubMed2006

Arterial and venous thrombosis in patients with von Willebrand's disease: a critical review of the literature.

All patients with von Willebrand's disease (vWD) who showed an arterial or venous thrombosis and were reported in the literature have been evaluated. 11 patients had arterial thrombosis while 19 had venous thrombosis for a total of 30 cases. 9 out the 11 cases with arterial thrombosis had myocardial infarction. Two had cerebral thrombosis. Associated risk factors for arterial thrombosis were available only for three patients who showed, respectively, smoking and dyslipidemia (2 cases) and smoking and intravenous desmopressin infusion (1 case). The majority of patients with venous thrombosis showed DVT with or without PE. Four patients presented with apparently isolated PE. In two instances thrombosis occurred in unusual sites (central retinal vein and portal vein, respectively). Several associated risk factors were present, mainly: infusion of FVIII or FVIII + vWF concentrates in 7 cases; surgery in 8 cases, pregnancy in 1, desmopressin infusion in 1, variable coagulation defects or polymorphisms in 5. More than one of these associated conditions were present in a few patients. The majority of vWD patients who showed thrombotic phenomena were type I patient, but in 6 cases were also type 3. The type of defect was not reported in 6 patients. As a conclusion of this review it seems safe to assume that both arterial and venous thrombosis appear rare in vWD. This is confirmed by the fact that arterial or venous thrombosis appears slightly more frequent in hemophilia A and B.

Humans↗
PubMed2006

The management of feto-maternal alloimmune thrombocytopenia: report of three cases.

We report herein three cases of severe fetal thrombocytopenia due to anti-human platelet antigen (HPA)- 1a maternal antibodies. The first and the third cases were diagnosed on the basis of previously affected siblings and treated successfully by maternal intravenous human immunoglobulins and corticosteroids. In the second case an unexpected neonatal thrombocytopenia was found after birth without previously affected siblings and treated subsequently with intravenous immunoglobulins. Our experience supports a switch from an invasive management, including early FBS (fetal blood sampling) and platelet transfusions, to a more cautious approach. Also in severe HPA-1a alloimmunization and in 'high risk' fetuses, prenatal maternal treatment could be performed, without previous FBS, only on the basis of a risk score defined by sibling history and parents' genotypes.

Adrenal Cortex Hormones↗
PubMed2006

Arterial and venous thrombosis in rare congenital bleeding disorders: a critical review.

A thorough review of the literature and of personal files has allowed the gathering of 81 patients with rare congenital bleeding disorders and thrombotic phenomena. Sixteen of these patients had congenital afibrinogenemia, eight involved factor V deficiency, 20 factor VII defects, 33 factor XI deficiencies and only one, a factor XIII defect. Altogether 42 patients showed arterial thrombosis (myocardial infarction [MI] in 28 cases; ischemic stroke in 4; arterial occlusion in 8; 2 patients with disseminated intravascular coagulation (DIC)). Ages varied between 13 and 74. Twenty-two patients were males and 16 females. In four cases, sex was not reported. There were three fatalities: two after a MI and one because of heart failure. With regard to venous thrombosis: 9 patients had pulmonary embolism, 15 patients had deep vein thrombosis, 9 patients had both pulmonary embolism and deep vein thrombosis; 1 patient had superficial vein thrombosis, whereas, 5 cases had an unusual site venous thrombosis (two portal systems, two cerebral sinuses, one inferior vena cava) for a total of 39 cases. Age varied between 3 and 86. In this case, 20 patients were males and 17 were females. In two cases, sex was not reported. There were three fatalities: two because of pulmonary embolism and one because of inferior vena cava thrombosis. The fact that thrombosis has never been described in patients with factor II or factor X seems to underscore the central antithrombotic role that these two factors have in the coagulation system.

Adolescent↗
PubMed2006

Myocardial infarction and other arterial occlusions in hemophilia a patients. A cardiological evaluation of all 42 cases reported in the literature.

Myocardial infarction and other arterial occlusions are considered to be rare in hemophilia A. However, a systematic study of the subject has never been attempted. All case reports of myocardial infarction or other arterial occlusions have been now gathered and properly evaluated from a cardiological point of view. Thirty-six patients with myocardial infarction and 6 patients with documented cerebrovascular event were retrieved from the literature. The age of the patients varied between 7 and 79 years, with a mean of 44 years. In 16 cases, the arterial occlusion occurred in men <40 years of age. The majority of myocardial infarctions (MIs) were anterolateral (12 cases). Posterior-inferior MI was present in 6 cases whereas it was of the non-Q type in 4 patients. It was multiple in 6 cases, and in the remaining patients the type of infarction could not be determined. In 26 cases, the thrombotic event (22 myocardial infarctions and 4 ischemic cerebrovascular accidents) occurred during or after the infusion of factor VIII concentrates and, more frequently, after prothrombin complex concentrates (activated or non-activated ones) or recombinant factor VIIa preparations. In 3 cases, the vascular complication occurred after intravenous desmopressin administration. MI was fatal in 7 instances. After the event, signs and symptoms of heart failure were seen as sequels in 7 patients. One patient had to undergo cardiac transplant 5 months after the MI. No death occurred after ischemic cerebrovascular accidents. Since not all hemophilia patients develop inhibitors and therefore are not usually treated with activated concentrates, this series of patients is somewhat biased and does not allow general conclusions. The high prevalence of MI and other arterial complications which occurred after transfusion therapy, usually in patients with inhibitors, clearly indicates the need for a careful evaluation of the appropriate therapeutic approach in each single patient.

Adolescent↗
PubMed2006

Diagnosis and follow-up of thrombotic thrombocytopenic purpura by means of von Willebrand factor collagen binding assay.

Thrombotic thrombocytopenic purpura (TTP) is characterized by intravascular thrombosis leading to consumption of large or unusually large von Willebrand factor (VWF) multimers. The usefulness of VWF collagen binding (VWF:CB) assay was assessed in detecting the decrease/absence of large VWF multimers or the presence of abnormally large forms in patients with TTP. Nine patients with TTP were studied during the acute phase of the disorder and the absence of large VWF multimers was demonstrated by means of the VWF:CB assay. These findings were confirmed by VWF multimer pattern analysis; VWF:CB deficiency appeared to correlate with abnormalities in large VWF multimers. The diagnostic potency of VWF:CB was especially evident when the values were expressed as VWF:CB/VWF:Ag ratio. VWF:CB was also used during the follow-up of the disorder to document improvement or restoration of large VWF multimers. VWF:CB was able to detect the absence or decrease of large VWF multimers better than VWF ristocetin cofactor (VWF:RCo); in fact, VWF:CB was defective when large VWF multimers persisted to be decreased, in contrast with what observed with VWF:RCo. In conclusion, VWF:CB is a simple test that appears to be useful, together with clinical symptoms and reduced platelet count, for the diagnosis and follow-up of TTP.

Acute Disease↗
PubMed2005

Myocardial infarction, other arterial thrombosis and invasive coronary procedures, in hemaophilia B: a critical evaluation of reported cases.

Myocardial infarction and other arterial thrombosis are commonly maintained to be rare in hemophilia patients. This, in general, seems true but the occurrence of a thrombotic event in hemophilia B is not exceptional. A thorough search of the literature has yielded 13 patients with myocardial infarction and 1 patient with a cerebrovascular accident. There were three fatalities. In five cases MI occurred after infusion of Prothrombin Complex Concentrates. In three additional patients the event occurred after infusion of plasma, Feiba or cryoprecipitate supernatant. Four patients had an antero-lateral infarction. Two had a non-Q infarction and one each showed a multiple or a posterior-inferior form. Several therapeutic coronary procedures (GABG and PTCA) were carried out in hemophilia B patients without undue complication providing adequate level of FIX were maintained. Heparin prophilaxis was used in all patients but one. The analysis of the literature indicates that (1) MI may occur in hemophilia B patients and (2) that invasive coronary artery therapeutic procedures may be carried out without complications.

Coronary Thrombosis↗
PubMed2005

Pregnancy and oral contraceptives in factor V deficiency: a study of 22 patients (five homozygotes and 17 heterozygotes) and review of the literature.

Information on the effect of pregnancy or oral contraceptives (OC) in congenital factor V (FV) deficiency is scanty. The personal investigation of five homozygous and 17 female heterozygous showed that patients with severe deficiency bleed considerably at the time of delivery. However, bleeding can be controlled properly by administration of fresh frozen plasma with excellent foetal outcome. The safe level for adequate haemostasis seems around 25% of normal. On the contrary, heterozygote patients show no significant postpartum bleeding and therefore need no substitution therapy. Oral contraceptives were taken and well tolerated by four of our homozygous patients and appear to be beneficial because they cause a decrease in menometrorrhagies thereby improving the anaemia and decreasing transfusional needs. One patient took hormonal replacement therapy with no undue effects. No thrombosis was noted in the propositae during oral contraceptive therapy. The review of the literature has allowed the gathering of information on 20 additional pregnancies. The foetal outcome was satisfactory in every instance. Excessive bleeding was noted in 11 pregnancies. In seven of the remaining pregnancies, no undue bleeding was noted thanks to appropriate substitution therapy. In the remaining two pregnancies no bleeding was noted and no substitution therapy was given. No data are apparently available in the literature about the use of OCs in FV deficiency.

Adult↗
PubMed2005

Main clinical manifestations of a bleeding diathesis: an often disregarded aspect of medical and surgical history taking.

A suitable clinical evaluation of a bleeding diathesis is often forgone. The young doctor is often unprepared to describe in an accurate way the different types of bleeding. An adequate classification and adequate clinical information about a bleeding diathesis are instead of paramount importance. Bleeding may be cutaneous, mucous, articular, muscular, parenchymal, intracavitary, orificial. Each of these sites and forms may have diagnostic implications. An accurate description of the several forms of cutaneous bleeding (petechiae, purpuric spots, ecchymosis, haematomas, etc.) is needed for referrals and for controls. The correct evaluation of cutaneous bleeding manifestations of children (battered child syndrome) is absolutely important for clinical and medico-legal purposes. The same is true for the battering syndrome seen in women abused by their spouses. The grading of haemarthrosis in haemophilia patients is important for the follow-up. A proper description of haematuria is essential in suggesting the probable site of bleeding (kidney or bladder or urethra). A proper evaluation of bleeding may give also useful information on the general health status of the patients (presence of anaemia, poor nutrition, renal insufficiency, etc.). The combination of bleeding and thrombosis in the same patient is also a clinical challenge. The relationship between haemorrhage and thrombosis may be sequential or concomitant. Sequential thrombosis may occur in a patient confined in bed for a brain haemorrhage. Concomitant thrombosis and bleeding occur in DIC and in patients with thrombosis being treated with anticoagulants. Finally, it should be kept in mind that a proper evaluation of the bleeding diathesis of a given patient may help the caring doctor in ordering appropriate laboratory tests (e.g. a platelet count for petechiae, a PTT for a patient with haemarthrosis, etc.).

Abdomen↗
PubMed2005

Myocardial infarction and arterial thrombosis in severe (homozygous) FXII deficiency: no apparent causative relation.

Twenty-one patients (12 female and 9 male) with severe (homozygous) factor XII (FXII) deficiency and 58 (32 female and 26 male) with heterozygous FXII deficiency were observed for an average 16.2 years. No patient with homozygous FXII deficiency experienced myocardial infarction or any other arterial thrombosis. The same was true for heterozygotes. The cases of FXII deficiency and arterial thrombosis reported in the literature were evaluated. In every instance, associated risk factors were present that could justify the arterial thrombosis. Dyslipidemia, hypertension, smoking, and diabetes mellitus were the most frequent findings. The examination of the few papers that dealt with the prevalence of arterial thrombosis in patients with severe FXII deficiency showed that only 1 patient of 61 experienced myocardial infarction. In conclusion, it seems that the role of FXII deficiency in the pathogenesis of arterial thrombosis is minor.

Adolescent↗
PubMed2005

Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes.

Results of coagulation studies on 21 homozygote patients with factor XII (FXII) deficiency revealed that all of them had no cross-reacting material (CRM) in their plasma. The 58 heterozygotes had in every instance an antigen level comparable to that of clotting activity namely, approximately 50% of normal. An analysis of all pertinent literature also showed that the presence of CRM is very rare in FXII deficiency. CRM is present in approximately 5% of homozygote patients. More precisely, seven of 145 patients. Only in one case, the antigen level was normal (FXII Washington). This prevalence appears lower than that observed for another contact phase factor (prekallikrein). The significance of blood abnormal forms of FXII has not been completely clarified yet. Their study appears useful in the attempt of clarifying the structure-function relation of factor XII.

Blood Coagulation↗
PubMed2004

Pregnancies and oral contraceptive therapy in severe (homozygons) FXII deficiency: a study in 12 patients and review of the literature.

Twelve women with severe Factor XII (FXII) deficiency were under observation for an average period of about 16 years. During this time, these women had 19 pregnancies without any bleeding or thrombotic complications. The evaluation of the literature has shown that three patients manifested deep vein thrombosis during pregnancy. Five women also showed mild bleeding at delivery . The significance of these findings is not clear since thrombotic and bleeding complications may occur occasionally even in normal women. Five of our patients took oral contraceptive therapy during their fertile life for a variable period of time (2-10 years). No thrombosis was noted in any of these patients. From the scanty data gathered, in this respect, from the literature, it was shown that only three women with severe FXII deficiency took oral contraceptives and no thrombosis was noted. Altogether these results seem to indicate that the FXII deficiency does not play any significant role in the pathogenesis of bleeding and of thrombotic complications in pregnancy. However, the occurrence of deep vein thrombosis in 3 out of the 64 patients for whom sufficient data could be gathered indicates the need for further studies. This is more so if one considers that 3 out of the 6 cases of venous thromboses described altogether in the literature for females with severe FXII deficiency occurred during pregnancy or puerperium.

Adult↗
PubMed2004

The occasional venous thromboses seen in patients with severe (homozygous) FXII deficiency are probably due to associated risk factors: a study of prevalence in 21 patients and review of the literature.

According to our personal experience and to the study of the literature, 11 cases of venous thrombosis have been described as sporadic reports in patients with severe (homozygous) factor XII (FXII) deficiencies. In every cases but 4, associated risk factors were found to be present (pregnancy, post-partum period, surgery, trauma, in dwelling catheter, AT deficiency, heterozygous factor V Leiden, Burger's disease). In some instances more then one condition was present. The four patients for whom no information is supplied, were cases gathered from old and logically incomplete files and therefore the existence of associated risk factors cannot be excluded. The papers which investigated the presence of venous thrombosis in cohorts of patients with homoxygous FXII deficiency demonstrated the occurrence of venous thrombosis in 2 additional cases out of a total of 63 patients investigated. In these latter cases thrombosis occurred during pregnancy. This brings the total number of patients with FXII deficiency who showed a venous thrombosis to 13. Only a few of these patients were investigated for the presence of concomitant congenital prothrombotic conditions. The conclusion of the study seem to suggest that the role played by FXII deficiency in the pathogenesis of venous thrombosis is minor, if any.

Factor XII Deficiency↗
PubMed2004

Long term use of oral contraceptives without thrombosis in patients with FV Leiden polymorphism: a study of 37 patients (2 homozygous and 35 heterozygous).

It is commonly accepted that women on oral contraceptive therapy have about a four fold increased incidence of venous thrombosis in comparison to non users. Women with FV Leiden polymorphism have an even higher incidence. The purpose of the paper is to show that women with FV Leiden polymorphism may sometimes remain asymptomatic in spite of long-term use of oral contraceptives. We have studied and followed 37 women with this polymorphism (35 heterozygotes and 2 homozygotes) who remained asymptomatic even after a long use, occasionally up to 10-12 years of oral contraception. Furthermore, these women remained asymptomatic in spite of the fact that the majority of them took preparations containing third generation progestins (gestodene or desogestrel). These progestins are considered to be more thrombogenic as compared to older ones. Finally, several of these women became pregnant before, during interruptions or after the contraceptive therapy and remained also asymptomatic but for one patient with varicose veins who developed superficial phlebitis during one pregnancy. These data indicate that FV Leiden polymorphism, as far as oral contraceptive therapy is concerned, is not a very strong prothrombotic condition and probably does not represent an absolute contraindication to its use. Unfortunately so far there is no sure way to distinguish the women with this polymorphism who will develop venous thrombosis from those who will remain asymptomatic during oral contraceptive therapy.

Adult↗
PubMed2004

Severe factor X deficiency in pregnancy: case report and review of the literature.

Isolate factor X deficiency is an extremely rare clotting factor disorder inherited in autosomal recessive fashion and pregnancy in a homozygous patient is frequently complicated by recurrent miscarriage, uterine bleeding and premature labour. Eleven pregnancies in seven patients affected by FX deficiency have been reported in the literature. Two additional pregnancies have been reported in a FX variant (FX Friuli). We present a new case of successful at term pregnancy in a homozygous patient.

Adult↗