1/190. Three cases of acquired von Willebrand disease associated with systemic lupus erythematosus. Acquired von Willebrand disease associated with systemic lupus erythematosus (SLE) has been detected in three middle-aged women. In each case the first clinical manifestation was a bleeding syndrome. plasma levels of von willebrand factor (VWF) and ristocetin-induced platelet agglutination were as found in type 1 von Willebrand disease for the first patient, type 3 for the second patient, and type 2 for the third patient. Intraplatelet levels of VWF were normal for all three patients. In all cases a mixture of patient's plasma with normal plasma resulted in inhibition of ristocetin-induced binding of VWF to normal platelets. Intravenous immunoglobulin given to patients 2 and 3 corrected the plasma VWF level of the second patient but not that of the third. Therapy with corticosteroids was partially beneficial for patient 3 and patient 2. For patient 2, the severity of the cutaneous lesions also led to the use of cyclophosphamide, and this therapy resulted in total correction of VWF levels. Our observations confirm previous reports of acquired von Willebrand syndrome associated with SLE and show heterogeneity both in the phenotypic form and in the response to treatment. ( info) |
2/190. Gly319 --> arg substitution in the dysfunctional prothrombin Segovia. The molecular defect of a congenitally dysfunctional form of prothrombin, prothrombin Segovia, was identified in a patient with a severe bleeding tendency, reduced prothrombin coagulant activity, and normal antigen level. Nucleotide sequencing of amplified dna revealed a G --> A change at nucleotide 7539 of exon 9 of the prothrombin gene. This resulted in the substitution of Gly319 by Arg. The proband was homozygous for this mutation, his father and brother were heterozygous. We surmised that the substitution, which occurs near the site of cleavage of prothrombin by factor xa (Arg320-Ile321), altered the conformation of the protein making the cleavage site inaccessible. ( info) |
3/190. The prothrombin Denver patient has two different prothrombin point mutations resulting in Glu-300-->Lys and Glu-309-->Lys substitutions. Dysprothrombinaemia is a rare, congenital cause of bleeding. Fewer than 25 families who express a functional prothrombin (factor II) defect have been reported. The original patient with prothrombin Denver had a severe haemophilia-like bleeding disorder treated with weekly prophylactic factor replacement. Analysis of factor II activity and antigen in the patient showed a factor II activity of 5 units/dl and factor II antigen of 21 units/dl. Genomic dna from the patient, mother and brother was obtained from peripheral blood white cells. oligonucleotides were constructed, and prothrombin exons were amplified via polymerase chain reaction (PCR). The entire sequence of the thrombin portion of the molecule (exons VIII-XIV) and that of exons I-II and IV-VII was determined. This moderately severe dysprothrombinaemia was found to be associated with compound heterozygosity for two different Glu-->Lys point mutations, at amino acid positions 300 and 309. Assays of plasma from the prothrombin Denver proband suggested that the functional defect was in the activation of zymogen to enzyme. ( info) |
4/190. Bell's palsy during interferon therapy for chronic hepatitis c infection in patients with haemorrhagic disorders. Two adult patients with life-long severe haemorrhagic disorders commenced on interferon-alpha2b therapy for chronic hepatitis c infection. Both developed Bell's palsy several weeks after commencing therapy, They were started on steroids and, in addition, the first patient discontinued interferon-alpha2b therapy while the second patient elected to continue with therapy. In both cases facial paralysis improved over the ensuing weeks. Bell's palsy is often idiopathic but has been reported. in association with herpesviruses. It is not a recognised complication of chronic hepatitis b or C infection, or interferon-alpha2b therapy. However, the interferons are associated with numerous adverse reactions including various neuropsychiatric manifestations and neurological syndromes. There are several reports of nerve palsies, including optic tract neuropathy, occurring during interferon therapy, and immune-based mechanisms are thought to play a role in the aetiopathogenesis. No reports of Bell's palsy in association with interferon therapy were identified in our literature search, although one possible case has been reported to the Committee of safety in medicine. Although Bell's palsy in our patients may have occurred by chance, a neuropathic effect of interferon-alpha2b on the facial nerve cannot be excluded and we urge physicians using interferons to be aware of this potential side-effect. ( info) |
| The authors report a case of fibrinolytic haemorrhagic diathesis after operation of vas deferens carried out under epidural analgesia. attention is called to the diagnostic difficulties in the rare complication of these operations. Treatment of fibrinolytic haemorrhagic diathesis is discussed stressing the advantages of trasylol, which is a drug of choice in emergency states associated with bleeding from the surface of the wound when difficulties arise in carrying out full blood clotting tests. ( info) |
6/190. Anesthetic implications of the grey platelet syndrome. PURPOSE: To describe the obstetrical anesthetic care provided to two sisters with a rare qualitative platelet disorder, the grey platelet syndrome (GPS). CLINICAL FEATURES: Both patients manifested thrombocytopenia prior to delivery without previous history of a bleeding diathesis or other abnormal laboratory tests of coagulation function. The first required emergency cesarean section due to fetal bradycardia. Due to the thrombocytopenia and the emergency nature of the procedure, general anesthesia was used. During the C-section, 1.5-2 litres of old blood was noted in the abdominal cavity which was attributed to an old splenic capsular tear of unknown etiology. work-up for the thrombocytopenia revealed large platelets on the peripheral smear with abnormal aggregation on platelet function studies. Electron microscopy of the platelets revealed absent alpha granules, diagnostic of GPS. The second patient, the sister of patient #1, presented in a similar fashion. However, at presentation, the platelet count was 112,000 x m(-3) and spinal anesthesia was provided without complication for Cesarean delivery. The same patient presented for a second delivery during which fetal bradycardia necessitated emergency C-section under general anesthesia. Despite administration of six units of platelets, blood loss was 5,200 mL. Her postpartum course was uncomplicated and she and the infant were discharged home on postoperative day #4. CONCLUSION: The primary concerns for the anesthesiologist looking after patients with qualitative platelet defects are related to defective coagulation which influences the need for perioperative replacement of blood products and limits the use of regional anesthesia. ( info) |
| A 36-year-old male with acquired immune deficiency syndrome (AIDS) presented with intractable nausea and vomiting of 1 week's duration that was not attributable to his medications. An esophagogastroduodenoscopy showed hemorrhagic and necrotic gastric mucosa but no ulcers were found. Histopathology revealed viral inclusions consistent with cytomegalovirus (CMV) disease of the stomach. The patient received 6 weeks of intravenous ganciclovir with resolution of symptoms and endoscopic findings. Cytomegaloviral involvement of the stomach is rare, even in immunocompromised patients. Characteristic findings on upper endoscopy are punched-out gastric ulcers. This is a rare case of CMV disease of the stomach presenting as hemorrhagic, necrotic gastritis with inflammatory bridging. ( info) |
8/190. Successful treatment of an acquired haemorrhagic diathesis due to factor x deficiency with chemotherapy. A 70-yr-old woman presented with a severe haemorrhagic diathesis due to an acquired factor x deficiency. A plasma infusion study showed that exogenous factor X was eliminated very effectively from the patient's circulation. A bone marrow biopsy was consistent with plasma cell dyscrasia. Neither an abdominal fat biopsy nor the bone marrow biopsy confirmed an amyloidosis, although clinically no other diagnosis seemed possible. Treatment with intermittent chemotherapy, consisting of vincristine, cytoxan and prednisone, yielded definite clinical and laboratory improvement. ( info) |
| Glanzmann's thrombasthenia (GT) is an uncommon cause of bleeding in children. We diagnosed two siblings as having GT on the basis of flow cytometric studies. Both had cutaneous bleedings and epistaxis since early childhood. Hematological investigations revealed prolonged bleeding time and a normal platelet count. Both the patients had absence of aggregation of platelets with the agonist adenosine diphosphate. Absence of the GPIIb/IIIa receptor was confirmed by flow cytometry. A short review of the disorder is presented. ( info) |
10/190. Refractory gastrointestinal bleeding treated with thyroid hormone replacement. Although bleeding diathesis has been associated with hypothyroidism, refractory gastrointestinal bleeding has not been previously described in association with hypothyroidism. We report a patient who presented with refractory gastrointestinal bleeding over an 8-week period. Extensive work-up demonstrated small intestinal vascular malformations as the source of bleeding. Despite endoscopic therapy and hormonal therapy, bleeding continued and required transfusion of 54 units of packed red blood cells. Surgical therapy was offered to the patient but was declined. Ultimately, correction of the patient's underlying hypothyroidism resulted in cessation of gastrointestinal bleeding, and no further blood transfusion was necessary. To date, the patient has remained euthyroid without further gastrointestinal bleeding for 30 months. ( info) |