Successful management of recurrent pregnancy-related thrombotic thrombocytopaenia purpura in a renal transplant recipient.

Thrombotic thrombocytopaenic purpura (TTP) is a rare but potentially devastating complication of pregnancy. We report the first documented case of a successful treatment of recurrent TTP complicating pregnancy in a renal transplant patient.

How strong is the association between maternal thrombophilia and adverse pregnancy outcome? A systematic review.

OBJECTIVE: To determine whether inherited and acquired thrombophilias are associated with adverse obstetric complications. STUDY DESIGN: A systematic review; studies where women with adverse obstetric complications were tested for one or more acquired and inherited thrombophilias were included. MAIN OUTCOME MEASURES: Prevalence of thrombophilia in women with severe pre-eclampsia/eclampsia, severe placental abruption, intrauterine growth restriction or unexplained stillbirth. RESULTS: Compared with controls, placental abruption was more often associated with homozygous and heterozygous factor V Leiden mutation, heterozygous G20210A prothrombin gene mutation, homocysteinaemia, activated protein C resistance or anticardiolipin IgG antibodies. Women with pre-eclampsia/eclampsia were more likely to have heterozygous factor V Leiden mutation, heterozygous G20210A prothrombin gene mutation, homozygous MTHFR C677T mutation, protein C deficiency, protein S deficiency or activated protein C resistance compared with controls. Unexplained stillbirth, when compared with controls, was more often associated with heterozygous factor V Leiden mutation, protein S deficiency, activated protein C resistance, anticardiolipin IgG antibodies or lupus anticoagulant. Women with intrauterine growth restriction had a higher prevalence of heterozygous G20210A prothrombin gene mutation, homozygous MTHFR C677T gene mutation, protein S deficiency or anticardiolipin IgG antibodies than controls. There was wide heterogeneity in the prevalence of thrombophilia between the studies. CONCLUSIONS: Women with adverse pregnancy outcome are more likely to have a positive thrombophilia screen but studies published so far are too small to adequately assess the true size of this association. Screening for thrombophilia should not become standard practice until clear evidence emerges that thromboprophylaxis during pregnancy improves perinatal outcome. Further research into the link between the observed association, causality and heterogeneity is required.

Phenotypic implications of a co-existent haemorrhagic and thrombotic genotype.

Inherited bleeding disorders such as Von Willebrands disease (VWD) present with varying bleeding tendencies in different individuals. There have been several attempts to identify the determinants for this varying severity of the haemorrhagic manifestations, especially in those with milder forms or type 1 VWD. Genetic mutations have been noted in persons with haemophilia to be contributing to a milder bleeding phenotype. This report describes the clinical implications of a similar mixed haemorrhagic-thrombotic genotype.

Multisystem failure due to three coexisting autoimmune diseases.

Systemic lupus erythematosis (SLE) is a potentially fatal, autoimmune disease, which can affect different organs and can present with protean clinical manifestations. It may be associated with many other autoimmune conditions and two rare such conditions are myelofibrosis and acquired haemophilia. Autoimmune myelofibrosis is a bone marrow disorder characterized by pancytopenia, which can occur in conjunction with the presenting features, or an exacerbation of previously established SLE. Acquired haemophilia is another rare disorder of haemostasis, which can be life threatening without prompt and appropriate treatment. The management of these different conditions in itself poses a difficult problem but when the three conditions present simultaneously in the same individual, the accurate diagnosis and indeed the appropriate management becomes extremely challenging. This report describes a young woman who presented with pancytopenia secondary to myelofibrosis and panserositis with no identifiable precipitating factors. Her condition deteriorated rapidly and she required intensive care support for respiratory failure and renal impairment. A presumed diagnosis of SLE was considered and treatment was initiated which improved and stabilised her condition. However, she developed bleeding complications from acquired haemophilia which required further specialist intervention. Multidisciplinary management of the patient helped in the resolution of the complications and stabilisation of her autoimmune conditions. This report should make physicians aware of the rare presentations of SLE and its complex management.

Immune restoration disease in HIV patient.

We describe a severely immunosuppressed HIV-1-positive man in whom immune restoration disease associated with pulmonary infection caused by Mycobacterium microti developed after antiretroviral treatment. The diagnosis was made by using convenient spoligotyping techniques, but invasive investigations were required to exclude a tumor.