1/10. Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy.Hereditary deficiency of prothrombin is a rare autosomal recessive bleeding disorder, with severe bleeding diathesis in homozygotes, but rarely resulting in intracranial haematoma. We describe two infants of consanguineous parents, presenting with acute subdural haematoma. Because such haematomas in infancy are highly indicative of trauma caused by child battering and because the socio-economic status of the family was unstable, there was a suspicion of child battering. However, further investigations revealed a bleeding diathesis due to a prothrombin deficiency. dna analysis of the prothrombin gene showed homozygosity for a novel mutation, substituting Lys for Glu at codon 7 and resulting in decreased specific clotting activity. We discuss the probability of bleeding diathesis versus child battering in the aetiology of intracranial haematoma.- - - - - - - - - - ranking = 1keywords = diathesis (Clic here for more details about this article) |
2/10. Gingival bleeding, epistaxis and haematoma three days after gastroenteritis: the haemorrhagic lupus anticoagulant syndrome.A 3 year and 9 month-old girl presented with gingival bleeding, epistaxis, and multiple haematomas 3 days after an acute episode of gastroenteritis. prothrombin time and activated partial thromboplastin time were prolonged with reduced clotting activity of factor II (< 10%), VIII (<1%), IX (3%), XII (10%) and evidence of a high titre inhibitor. Prothrombin (factor II) level was below the detection limit, both in a functional and immunological assay. It did not increase after administration of vitamin k or fresh frozen plasma. Further studies revealed presence of a strong lupus anticoagulant and a specific IgG antibody against prothrombin. factor viii antigen levels also were reduced (31%), but to a lesser extent than functionally determined factor viii (<1%). blood coagulation normalised following clinical recovery 6 weeks after admission. The pathophysiology of this acquired inhibitor phenomenon (accelerated clearance of complexes of clotting factors and phospholipids) is discussed. CONCLUSION: The haemorrhagic lupus anticoagulant syndrome (acquired hypoprothrombinaemia lupus anticoagulant syndrome) is a rare presentation of acquired bleeding diathesis in childhood. Since most cases in post-infectious children are asymptomatic, it might be underdiagnosed. In children with newly appearing bleeding symptoms or unclear prolonged prothrombin time or activated partial thromboplastin time, one has to consider this syndrome which could lead to relevant bleeding.- - - - - - - - - - ranking = 0.33333333333333keywords = diathesis (Clic here for more details about this article) |
3/10. Prothrombin Suresnes: a case of homozygous F299V mutation responsible for hypodysprothrombinemia.A patient with a severe prothrombin deficiency and a hemorrhagic diathesis was found to have positive cross-reactive material in plasma and a homozygous F299V mutation (F7V in the A chain). This mutation reinforces the previous conclusion that the A chain affects the geometry of the catalytic triad. Marked prolongation of the Taipan venom and Russell venom clotting times also demonstrated a defective activation mechanism and a defective interaction with factor xa.- - - - - - - - - - ranking = 0.33333333333333keywords = diathesis (Clic here for more details about this article) |
4/10. Correction of hypoprothrombinemia by immunosuppressive treatment of the lupus anticoagulant-hypoprothrombinemia syndrome.A 66-year-old man with the lupus anticoagulant-hypoprothrombinemia syndrome was treated with cyclophosphamide and prednisone to correct a factor II deficiency prior to elective major surgery. Whereas the lupus anticoagulant activity persisted, functional factor II levels normalized and he underwent surgery without a bleeding diathesis. Immunosuppressive therapy may temporarily normalize factor II levels in patients with the lupus anticoagulant-hypoprothrombinemia syndrome and reduce the risk of excessive hemorrhage. The disparate response of the lupus anticoagulant and hypoprothrombinemia to immunosuppression suggests that the lupus anticoagulant did not directly cause the hypoprothrombinemia.- - - - - - - - - - ranking = 0.33333333333333keywords = diathesis (Clic here for more details about this article) |
5/10. Progressive systemic sclerosis with the nephrotic syndrome and acquired factor X deficiency.A patient with progressive systemic sclerosis (PSS) involving skin, digit, esophagus, and lung developed the nephrotic syndrome and rapidly progressive renal insufficiency. Renal pathology revealed capillary collapse, cellular crescents, arteriolar hyaline deposition, and mesangial proliferation. On immunofluorescence IgM, C3, and fibrinogen were present in mesangium and capillary walls. Prebiopsy coagulation screening revealed a factor x deficiency which caused substantial prolongation of the partial thromboplastin time without an overt bleeding diathesis. The acquired factor x deficiency resolved after fresh frozen plasma and vitamin k administration, although some spontaneous improvement was noted. nephrotic syndrome may occasionally be seen in the acute fulminant form of PSS and should not deter diagnosis of PSS.- - - - - - - - - - ranking = 0.33333333333333keywords = diathesis (Clic here for more details about this article) |
6/10. Acquired, transient factor X (Stuart factor) deficiency in patient with mycoplasma pneumonial infection.A case of severe haemorrhagic diathesis due to acquired deficiency of factor X (both immunologically and in procoagulant activity) is presented. The clinical and serological features of this case indicated mycoplasma pneumonial infection. Factor X in the peripheral blood did not appear to be influenced by administration of vitamin k, prothrombin-complex concentrate, fresh plasma or fresh whole blood. Circulating inhibitors of blood coagulation were absent and systemic amyloidosis could not be demonstrated. After 20 d, factor X spontaneously returned to normal. In view of the absence of other known causes of factor x deficiency, a possible relationship with mycoplasma pneumonial infection is suggested.- - - - - - - - - - ranking = 7.5168649842294keywords = haemorrhagic diathesis, diathesis (Clic here for more details about this article) |
7/10. Haemorrhagic diathesis as a possible early sign of hereditary fructose intolerance.An infant girl three weeks of age with the leading symptom of skin haemorrhages is presented. On further investigation, the signs of severe hepatic damage with hypofibrinogenaemia and prothrombin complex impairment, and renal tubular dysfunction were disclosed. All these pathological symptoms, which were reversed on fructose free diet, were caused by hereditary fructose intolerance.- - - - - - - - - - ranking = 1.3333333333333keywords = diathesis (Clic here for more details about this article) |
8/10. The absence of factor II in a child with systemic lupus erythematosus.This report describes a patient with active system lupus erythematosus (SLE), who developed haemorrhagic diathesis due to a lowering of plasma factor II activity. No evidence was found suggesting a plasma inhibitor of factor II. The present case indicates that in some patients with SLE, factor II activity may be low or completely absent due to impairment of factor II synthesis, further that prednisone, but not azathioprine, may ameliorate this defect.- - - - - - - - - - ranking = 7.5168649842294keywords = haemorrhagic diathesis, diathesis (Clic here for more details about this article) |
9/10. Acquired hypoprothrombinemia: effects of danazol treatment.The lupus anticoagulant may be accompanied by an acquired factor II deficiency and bleeding. We report on a patient with a lupus anticoagulant and factor II (Fll) deficiency responsive to danazol. Acquired hypoprothrombinemia (FII) with the lupus anticoagulant (LA) may be accompanied by a hemorrhagic diathesis. A 64-year-old male with discoid lupus erythematosis bled after an intestinal polypectomy. His FII level was 18%, and his FII antigen level was 20%. danazol (D) (600 mg per day) administration was associated with a rise in FII activity and antigen to 50% within 10 days. The patient underwent abdominal surgery. We studied the effect(s) of D on the FII level and on other coagulation factors in this patient. The patient's plasma FII antigen had a single precipitin arc compared to the two peaks of normal plasma on counterimmunoelectrophoresis with Ca . The samples pre- and during D therapy had the same positively charged arc as normal samples, although they were quantitatively different. neuraminidase treatment demonstrated a decrease in the positively charged migration of normal and the patient's FII antigen. Affinity chromatography of normal and patient plasma on a sepharose protein A column revealed FII antigen present in the patient's bound fraction. The relative percentages of bound FII before and during D treatment were similar. During D therapy, levels of FIX and X rose 50-100%, and protein c rose 20-25%, while free protein s did not change. D is an effective therapy for acquired FII deficiency associated with LA. D does not affect the binding of Ig to FII, but D raises FII levels by increasing synthesis of the FII protein.- - - - - - - - - - ranking = 0.33333333333333keywords = diathesis (Clic here for more details about this article) |
10/10. Treatment of amyloidosis associated factor x deficiency.This is the tenth patient in thirteen years to be reported with the findings of an isolated factor x deficiency associated with primary amyloidosis. A favorable response to factor ix concentrate was manifested by temporary clinical and laboratory correction of her diathesis. This mode of treatment, therefore, provides an approach to therapy for bleeding complications in this group of patients who have previously failed to response to fresh frozen plasma.- - - - - - - - - - ranking = 0.33333333333333keywords = diathesis (Clic here for more details about this article) |
| | Next -> |