Case report of thrombotic thrombocytopenic purpura during pregnancy with a review of the relevant research.

RATIONALE: Thrombotic thrombocytopenic purpura (TTP) is a syndrome characterized by widespread blood vessel clotting and bleeding. It can affect individuals of any age but is more commonly observed in females, particularly during pregnancy. Pregnancy combined with TTP is a critical and rapidly progressing condition that is often misdiagnosed as an obstetric disorder like severe preeclampsia or HELLP syndrome. To deepen the understanding of TTP during pregnancy with the help of a clinical case. PATIENT CONCERNS: A 20-year-old patient, is pregnancy 1 birth 0, 32 weeks dated by her last menstrual period, presented chest tightness, and shortness of breath after physical activity for 3 days. DIAGNOSES: TTP. INTERVENTIONS: At present, there are no preventive measures. Timely diagnosis and treatment are useful. Plasma exchange and treat to the patient hinder autoantibodies, such as gamma globulin, methylprednisolone, rituximab, and cyclosporine were effective. OUTCOMES: The patient exhibited stable vital signs, normal examination results, and experienced no complications. We continued to monitor her progress after she was discharged. LESSONS SUBSECTIONS: The acute onset of TTP is often associated with pregnancy, as it is a triggering factor. Timely identification, accurate diagnosis, and a comprehensive treatment approach involving plasma exchange, immunosuppressants, and the termination of pregnancy can lead to remission and a favorable outlook for the majority of patients.

A Case of Pregnancy-Induced Hereditary Thrombotic Thrombocytopenic Purpura Complicated by Cerebral Vasospasm.

BACKGROUND: The aim was to explore the treatment of a case of congenital thrombotic thrombocytopenic purpura induced by pregnancy complicated with cerebral vasospasm. METHODS: We present a case study of congenital TTP where disease onset occurred during two separate pregnancies. Interestingly, the disease course exhibited distinct differences on each occasion. Additionally, following plasma transfusion therapy, there was a transient occurrence of cerebral vasospasm. RESULTS: In this case, ADAMTS13 levels reached their lowest point three days after delivery during the first pregnancy, triggering morbidity. Remarkably, a single plasma transfusion of 400 mL sufficed for the patient's recovery. Nonetheless, a recurrence of symptoms transpired during her second pregnancy at 24 weeks of gestation. Plasma transfusions were administered during and after delivery. Sudden convulsions developed. ADAMTS13 ac-tivity returned to normal, but cranial MRA revealed constrictions in the intracranial segments of both vertebral arteries, the basilar artery, and the lumen of the anterior, middle, and posterior cerebral arteries. A subsequent cranial MRA conducted a month later showed no lumen stenosis, indicating spontaneous recovery. CONCLUSIONS: These findings highlight the importance of careful consideration when administering plasma transfusions in congenital TTP during pregnancy. Moreover, the development of novel therapeutic approaches such as recombinant ADAMTS13 is crucial for minimizing complications and optimizing patient care.

Iron overload in anaemia with underlying haemoglobin constant spring in an antenatal mother in primary care.

This is the case of a gravida 3 para 1 woman in her late 20s with underlying haemoglobin constant spring who visited a healthcare clinic for an antenatal check-up. Towards the end of her second trimester, she experienced lethargy. During her antenatal booking, she was diagnosed with mild asymptomatic anaemia, high serum ferritin, T saturation of 88% and abnormal liver function tests. She was referred to a hospital where an MRI scan revealed over 2 g of iron deposits in her liver, leading to a revised diagnosis of iron overload. Treatment included deferoxamine and expectant management throughout her antenatal period, and her delivery was uncomplicated. While iron deficiency anaemia is common in pregnancy, it is crucial not to overlook iron deposition and the distinction from acute fatty liver during pregnancy to prevent treatment delays.

Immune thrombocytopenia (ITP) in pregnancy.

Immune thrombocytopenia (ITP) in pregnancy is challenging for both mother and fetus. Understanding the pathophysiology, treatments, and risks to the mother and fetus leads to proper management resulting in successful pregnancy and delivery in almost all cases.1 ITP in a pregnant woman has many similarities to ITP not in pregnancy although gestational thrombocytopenia can be confused with ITP. However, recognizing differences is instrumental in avoiding bleeding complications and toxicities of treatment. This Nutshell review focuses on the natural history of ITP in pregnancy, its treatment, and dilemmas.

Management of pregnancy and delivery in congenital fibrinogen disorders: communication from the ISTH SSC Subcommittee on Factor XIII and Fibrinogen.

Congenital fibrinogen disorders (CFDs) are a heterogeneous group of rare congenital quantitative and/or qualitative fibrinogen deficiencies. The spectrum of molecular anomalies is broad, leading to several subtypes of fibrinogen disorders (ie, afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia). Pregnancy in women with CFDs is a high-risk clinical situation, with an increased tendency for miscarriages, bleeding, and thrombosis. Even though it is well established that management of such pregnancies requires a multidisciplinary approach involving specialists (hematologists and maternal/fetal medicine experts with expertise in the management of inherited bleeding disorders), specific guidelines are lacking. In this International Society on Thrombosis and Haemostasis (ISTH) Scientific and Standardization Committee communication, we aim to propose an expert consensus opinion with literature evidence where available on the strategy for management of pregnancy, delivery, and puerperium in CFDs.

Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.

ABSTRACT: Platelet count reduction occurs throughout pregnancy, with 5% to 12% of pregnant women being diagnosed with gestational thrombocytopenia (GT), characterized by a more marked decrease in platelet count during pregnancy. However, the underlying biological mechanism behind these phenomena remains unclear. Here, we used sequencing data from noninvasive prenatal testing of 100 186 Chinese pregnant individuals and conducted, to our knowledge, the hitherto largest-scale genome-wide association studies on platelet counts during 5 periods of pregnancy (the first, second, and third trimesters, delivery, and the postpartum period) as well as 2 GT statuses (GT platelet count < 150 × 109/L and severe GT platelet count < 100 × 109/L). Our analysis revealed 138 genome-wide significant loci, explaining 10.4% to 12.1% of the observed variation. Interestingly, we identified previously unknown changes in genetic effects on platelet counts during pregnancy for variants present in PEAR1 and CBL, with PEAR1 variants specifically associated with a faster decline in platelet counts. Furthermore, we found that variants present in PEAR1 and TUBB1 increased susceptibility to GT and severe GT. Our study provides insight into the genetic basis of platelet counts and GT in pregnancy, highlighting the critical role of PEAR1 in decreasing platelet counts during pregnancy and the occurrence of GT. Those with pregnancies carrying specific variants associated with declining platelet counts may experience a more pronounced decrease, thereby elevating the risk of GT. These findings lay the groundwork for further investigation into the biological mechanisms and causal implications of GT.

Society for Maternal-Fetal Medicine Consult Series #68: Sickle cell disease in pregnancy.

Pregnant individuals with sickle cell disease have an increased risk of maternal and perinatal morbidity and mortality. However, prepregnancy counseling and multidisciplinary care can lead to favorable maternal and neonatal outcomes. In this consult series, we summarize what is known about sickle cell disease and provide guidance for sickle cell disease management during pregnancy. The following are Society for Maternal-Fetal Medicine recommendations.

How I treat thrombocytopenia in pregnancy.

ABSTRACT: Thrombocytopenia is a common hematologic abnormality in pregnancy, encountered in ∼10% of pregnancies. There are many possible causes, ranging from benign conditions that do not require intervention to life-threatening disorders necessitating urgent recognition and treatment. Although thrombocytopenia may be an inherited condition or predate pregnancy, most commonly it is a new diagnosis. Identifying the responsible mechanism and predicting its course is made challenging by the tremendous overlap of clinical features and laboratory data between normal pregnancy and the many potential causes of thrombocytopenia. Multidisciplinary collaboration between hematology, obstetrics, and anesthesia and shared decision-making with the involved patient is encouraged to enhance diagnostic clarity and develop an optimized treatment regimen, with careful consideration of management of labor and delivery and the potential fetal impact of maternal thrombocytopenia and any proposed therapeutic intervention. In this review, we outline a diagnostic approach to pregnant patients with thrombocytopenia, highlighting the subtle differences in presentation, physical examination, clinical course, and laboratory abnormalities that can be applied to focus the differential. Four clinical scenarios are presented to highlight the pathophysiology and treatment of the most common causes of thrombocytopenia in pregnancy: gestational thrombocytopenia, preeclampsia, and immune thrombocytopenia.

Identifying and treating iron deficiency anemia in pregnancy.

Anemia is common during pregnancy, and while most anemia is physiologic, the most common pathologic cause is iron deficiency. The American College of Obstetricians and Gynecologists (ACOG) recommends confirmation of iron deficiency anemia with iron studies when anemia is diagnosed during pregnancy but acknowledges that presumptive treatment for suspected iron deficiency anemia is common in practice. Currently ACOG does not recommend treating iron deficiency without anemia during pregnancy. Though the benefits of treating iron deficiency anemia during pregnancy are clear, the optimal route of iron repletion remains uncertain. Results of ongoing large, randomized trials will help define the optimal route of iron treatment for pregnant patients diagnosed with iron deficiency anemia.

Anemia In Pregnancy: Examining Missed Diagnoses and Racial Disparities in the Upper Midwest.

Anemia in pregnancy (AIP) is associated with poor maternal/fetal outcomes. The prevalence of AIP globally ranges from 44-53% and varies drastically depending on maternal race/ethnicity and other factors. Screening and treatment of AIP is disputed. This study is a retrospective review of electronic medical records (EMR) of pregnant adults over three years (2018-2020, inclusive) of Sanford Health, a large healthcare system in the upper Midwest. AIP was determined by either diagnosis or lab values (hemoglobin, hematocrit, and ferritin) overlapping with pregnancy. A missed diagnosis was characterized by confirmed anemia through lab values but lacking a diagnosis of anemia within EMR. A total of 35,498 patients were included in this study, 42.9% were determined to have AIP. Of AI/AN (American Indian/Alaska Native) patients, 58.3% were anemic and 55.1% of Black/African American patients were anemic compared to 40.0% of anemic white patients. Of anemic patients, 81.1% did not have an anemia diagnosis listed in EMR. This study identifies racial and ethnic disparities of AIP among patients in the upper Midwest. In addition, this study highlights the need for improved data integrity within EMR.

Analysis of the anemia characteristics in early pregnancy and outcomes of pregnant women with hemoglobin H disease.

OBJECTIVE: This study aimed to analyze the anemia characteristics in early pregnancy of pregnant women with hemoglobin H (Hb H) disease and their pregnancy outcomes, and to provide reference to the pregnancy management and treatment of these women. PATIENTS AND METHODS: Twenty-eight cases of pregnant women who had been diagnosed with Hb H disease in the Second Affiliated Hospital of Guangxi Medical University from August 2018 to March 2022 were retrospectively analyzed. Moreover, 28 cases of normal pregnant women in the same period were randomly enrolled as a control group for comparison. The means and percentages of the anemia characteristics in early pregnancy and the pregnancy outcomes were calculated and the analysis of variance, Chi-square test, and Fisher's exact test were applied for comparison. RESULTS: A total of 13 cases of missing type (46.43%) and 15 cases of non-missing type (53.57%) were observed in the 28 cases of pregnant women with Hb H disease. The genotypes were as follows: 8 cases of -α3.7/--SEA (28.57%), 4 cases of -α4.2/--SEA (14.29%), 1 case of -α4.2/--THAI (3.57%), 9 cases of αCSα/--SEA (32.14%), 5 cases of αWSα/--SEA (17.86%), and 1 case of αQSα/--SEA (3.57%). Twenty-seven patients with Hb H disease (96.43%) were anemic, including 5 cases of mild anemia (17.86%), 18 cases of moderate anemia (64.28%), 4 cases of severe anemia (14.29%), and 1 case of non-anemia (3.57%). Compared with the control group, the Hb H group had significantly higher red blood cell count and significantly lower Hb, mean corpuscular volume, and mean corpuscular hemoglobin, and the differences were statistically significant (p < 0.05). The Hb H group had higher incidence rates of blood transfusion during pregnancy (BTDP), oligohydramnios fetal growth restrictions (FGR), and fetal distress than the control group. The weights of neonates were lower in the Hb H group than in the control group. Statistically significant differences were found between these two groups (p < 0.05). CONCLUSIONS: The genotype missing type of pregnant women with Hb H disease was mainly -α3.7/--SEA and the non-missing type was mainly αCSα/--SEA. Hb H disease can easily cause various degrees of anemia (mainly moderate anemia in this study). Moreover, it can increase the incidence rate of pregnancy complications such as BTDP, oligohydramnios, FGR, and fetal distress, which will reduce the weight of neonates and seriously affect maternal and infant safety. Therefore, maternal anemia and fetal growth and development should be monitored during pregnancy and delivery, and transfusion therapy should be used to improve adverse pregnancy outcomes caused by anemia when necessary.

Evidence-based obstetric management of women with sickle cell disease in low-income countries.

Pregnancy in women with sickle cell disease (SCD) is fraught with complications, some of which are life-threatening. Managing pregnancy in these women can be challenging, especially with poor resources, which is often the case in low-income countries. In Nigeria, for instance, up to 90% of patients pay out of pocket for medical care due to the poorly developed health insurance system, and this worsens the morbidity and mortality associated with this condition. We describe a pragmatic approach to routinely managing pregnant women with SCD in the antenatal period, showing the feasibility of effective management of these high-risk pregnancies in limited-resource settings. We also present the case of a pregnant Nigerian woman with SCD who has intrauterine growth restriction (IUGR) and acute chest syndrome (ACS), conditions that are life-threatening for the fetus and the mother, respectively, and require prompt intervention. We highlight how we successfully managed this woman in a cost-effective manner by employing relatively inexpensive tests for diagnosis and treating her effectively with oxygen, appropriate antibiotics and manual exchange blood transfusion for the ACS, and finger pulse oximeters to monitor oxygen saturation. We explore pathophysiological concepts to IUGR in women with SCD and briefly discuss the appropriate mode of delivery, including the options for pain relief in labor.

Pregnancy and sickle cell disease: an overview of complications and suggested perinatal care.

INTRODUCTION: Pregnancy in women with sickle cell disease (SCD) has been identified as high risk owing to increased incidence of materno-fetal complications across various studies and reports. These complications include consequences related to the underlying hemoglobinopathy; chronic anemia/associated inflammation, and pregnancy related including the risk for thromboembolism, bleeding and maternal mortality. Outcomes of neonates born to women with SCD has been suboptimal over the years with recent improvement due to strict monitoring, preventive and therapeutic measures. Much is yet to be unraveled regarding the optimal management of women with SCD during pregnancy, identifying target hemoglobin, delivery mode or timing among others. AREAS COVERED: This review includes a summary of available data of the maternal and fetal outcomes; in addition to current recommendations for monitoring and management of women with SCD during pregnancy. EXPERT OPINION: To have a successful pregnancy, women should be closely monitored, and interventions provided as needed to guarantee adequate management of anemia, as well as prevention, diagnosis and management of disease. They should also be educated regarding their reproductive health, emphasizing that pregnancy is possible, and achieving optimal results depends on providing adequate care in a health care facility with expertise in high-risk pregnancies and SCD.

Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? - a cohort study and systematic review of the literature.

OBJECTIVE: There are numerous studies reporting a disproportionally high prevalence of thrombophilia in women with a history of recurrent miscarriage (RM), which has led to overdiagnosis and treatment without an improvement in clinical outcomes. The objective of our study was to assess the prevalence of inherited and acquired thrombophilia in a large cohort of women with a history of early RM using internationally agreed diagnostic criteria and inclusion parameters and compare it to the meta-analysis results of existing literature. METHODS: DESIGN: Retrospective cohort study and systematic review of literature. SETTING: This is a retrospective cohort study set-up in two dedicated tertiary centres for women with RM in Southwest London and Surrey. We reviewed all the available literature related to causes of RMs. We ascertained the prevalence of thrombophilia in the study population and compared it with historical and published prevalence in the general population. PARTICIPANTS: 1155 women between 2012 and 2017. All patients had three or more first trimester miscarriages and a full thrombophilia screen. RESULTS: The overall prevalence of thrombophilia in our study population is 9.2% (106/1155) with 8.1% (94/1155) of cases positive for inherited thrombophilia, which is similar to the general population; Factor V Leiden (4.9%; 57/1155) and prothrombin gene mutation (2.9%; 34/1155) were the most common inherited thrombophilias, while only 1% (12/1155) tested positive for acquired thrombophilia. Persistent positive lupus anticoagulant (LA) was found in 0.5% (6/1155) and persistent positive anticardiolipin (ACL) antibodies with a value ≥40 U/mL was found in 0.5% (6/1155) of patients. Tests for LA/ACL were performed a minimum of 12 weeks apart thus meeting the revised Sapporo criteria for a diagnosis of antiphospholipid syndrome. CONCLUSION: The findings of our study demonstrate that the prevalence of inherited thrombophilia is similar in women with RM to that in the general population. Similarly, the prevalence of acquired thrombophilia, using the revised Sapporo criteria, in the cohort of RMs is similar to that in the general population. Therefore, we do not recommend investigation or treatment of inherited or acquired thrombophilia in women with RM. PROSPERO REGISTRATION NUMBER: CRD42020223554.

Screening, Treatment, and Monitoring of Iron Deficiency Anemia in Pregnancy and Postpartum.

Iron deficiency anemia is the most prevalent form of anemia worldwide. In the United States, clinicians routinely screen for iron deficiency anemia upon initiation of prenatal care, at the start of the third trimester, and prior to birth. Treatment of iron deficiency anemia generally begins with oral supplementation of elemental iron, which is associated with adverse gastrointestinal effects. These adverse effects can decrease adherence, leading to subtherapeutic treatment. Newer evidence highlights the benefits of early screening for iron deficiency before the onset of anemia, as well as the use of intravenous iron to expedite the treatment of iron deficiency anemia. More research is needed on the potential consequences of over-supplementation and iron deficiency without anemia to guide treatment. This article reviews the evidence for best practices for screening, treatment, and continued monitoring of iron deficiency anemia during pregnancy and postpartum. Maternal, fetal, and neonatal implications are reviewed, as well as the risks and benefits of treatment options. Finally, an evidence-based algorithm is proposed to guide clinicians on continued monitoring after treatment.

Gaucher disease carrier with gestational thrombocytopenia and anemia: a case report.

BACKGROUND: Gaucher disease is an autosomal recessive inborn error of metabolism that causes disorders of blood, bone, and central nervous system as well as hepatosplenomegaly. We present the case of a carrier of Gaucher disease with gestational thrombocytopenia and anemia that required blood transfusion therapy. CASE PRESENTATION: A 24-year-old Nepalese primipara was diagnosed with idiopathic thrombocytopenia at 12 weeks of gestation. Her platelet count had reduced to 30,000/µL at 21 weeks of gestation, and the hemoglobin content reduced to 7.6 g/dL at 27 weeks of gestation. As she did not respond to any medication, blood transfusion was performed. A female infant weighing 2677 g was delivered vaginally at 39 weeks of gestation. On the 78th day of puerperium, the platelet count of the mother recovered to 101,000/µL, and the hemoglobin content recovered to 12.5 g/dL. The infant had convulsions, respiratory depression, wheezing, systemic purpura, and exfoliation of the epidermis at birth. The infant was diagnosed with Gaucher disease at 37 days of age and passed away at 82 days of age. Subsequently, the parents were diagnosed as carriers of Gaucher disease. CONCLUSION: As carriers of this disease do not usually show symptoms, it is imperative to provide information regarding disease management for future pregnancies.

Anemia in pregnant women according to two different assessment criteria (WHO versus CDC).

OBJECTIVE: To determine the prevalence of anemia among pregnant women and the associated factors and perinatal outcomes according to two different diagnostic criteria: the WHO criterion and the US Center for Disease Control and Prevention (CDC) criterion. METHODS: Cohort study, operationalized through a database. The sample comprised 781 pregnant women who had laboratory data regarding hemoglobin levels during the second trimester of pregnancy. Anemia was diagnosed when hemoglobin was less than 11 g/dl according to WHO and less than 10.5 g/dl according to CDC. Factors possibly associated with anemia were identified by adjusting Poisson univariate and multivariate regression models. To analyze the association between perinatal outcomes and anemia, the χ2 test and Fisher exact test were performed. RESULTS: The prevalence of anemia was 22.9% according to WHO and 10.9% according to CDC. A significantly higher risk of low birth weight was found in children of women with anemia, regardless of the diagnostic criteria used, while a greater risk of having a small-for-gestational-age newborn was seen only when the CDC criterion were applied. CONCLUSION: Anemia during pregnancy remains an important public health issue, but its magnitude may be overestimated by overly sensitive assessment criteria.