Haematinic deficiency in pregnancy: another HELLP mimic.

Haematinic deficiency is not uncommon in pregnancy. Folate deficiency is more common than B12 deficiency because of the increased uptake of folate in pregnancy, and the fact that B12 stores take much longer to deplete. Described here are five cases of anaemia in pregnancy secondary to severe haematinic deficiency with subsequent management and pregnancy outcomes. In the majority of cases, the women were proteinuric, but systemically well and normotensive. Thrombotic thrombocytopenic purpura and HELLP were both considered, but the identification of very abnormal folate levels of less than 3 µg/L in all and low B12 deficiency in the majority made haematinic deficiency the most likely diagnosis. They all received high dose folic acid, parenteral vitamin B12 and oral iron and made good haematological recoveries. Adequate antenatal correction of vitamin deficiency like this avoids bone marrow suppression and helps minimise poor obstetric outcomes associated with pre-existing anaemia including post-partum haemorrhage.

Non-alcoholic fatty liver disease in pregnancy.

Non-alcoholic fatty liver disease (NAFLD) is now the commonest liver pathology in the UK; however, relatively little is known about its course in pregnancy or the effect it has on maternal or fetal outcomes. Described here is a 24-year-old woman in her first pregnancy who presented with non-specific symptoms and raised alanine aminotransferase with ultrasonography of her liver showing changes of steatosis and suspicious for cirrhosis, leading to a diagnosis of NAFLD. The case illustrates the need for the clinician to have awareness of this increasingly prevalent condition and for multidisciplinary management.

Iron deficiency anaemia in pregnancy: A contemporary review.

Iron deficiency anaemia is a global health problem, which particularly affects pregnant women. Iron deficiency anaemia during pregnancy is associated with increased maternal and perinatal morbidity and mortality. Maternal iron deficiency may also be associated with neurocognitive deficits in infants. Iron requirements increase during pregnancy and are influenced by hepcidin, the master regulator of iron homeostasis. The enduring global burden of maternal anaemia suggests that currently employed iron supplementation strategies are suboptimal. Recent developments in our understanding of systemic and placental iron homeostasis may improve therapeutic effectiveness by altering the dose and frequency of oral iron. Intravenous iron appears to be a safe treatment to correct maternal anaemia rapidly but research on patient-centred outcomes and cost-effectiveness is needed. Future trials should be adequately powered to assess outcomes relevant to pregnant women.

Loeys-Dietz syndrome in pregnancy.

Loeys-Dietz syndrome is a recently described condition which causes cardiovascular, craniofacial, neurocognitive and skeletal abnormalities due to mutations in components of the transforming growth factor-ß signalling pathway. Associated vascular abnormalities include vessel tortuosity and an increased incidence of vascular dissection. Pregnancy increases the risk of aortic dissection compared to non-pregnant individuals and an underlying condition such as Loeys-Dietz syndrome increases this further. While aortic dissection is well described in pregnancy in Loeys-Dietz syndrome, some women can have uncomplicated deliveries, particularly when the risks of the condition are actively managed. Such pregnancies should be considered high-risk, and women should be counselled and managed accordingly. Here we describe two pregnancies in one woman, both with successful outcomes, followed by a summary of the key management principles.

Antisynthetase syndrome in pregnancy: A case and review of the literature.

Antisynthetase syndrome is a rare autoimmune, multisystem, inflammatory condition, characterised by autoantibodies against aminoacyl tRNA synthetases. The predominant features are myositis and interstitial lung disease but other symptoms such as Raynaud's phenomenon may also be present. Described here is a 36-year-old woman with antisynthetase syndrome who planned and underwent a successful pregnancy, during which a multidisciplinary team approach secured a good outcome for both mother and baby.

Loeys-Dietz syndrome and pregnancy: The first ten years.

The physiological and haemodynamic changes that occur in pregnancy and the postpartum period increase the risk of aortic dissection. Loeys-Dietz syndrome results from mutations in the genes encoding components of the TGF-ß signalling pathway; aortic pathology is of particular concern in this condition but other vascular abnormalities can also be present. Significant maternal morbidity and mortality has been described in patients with Loeys-Dietz syndrome, but successful and uncomplicated pregnancies are still possible. Nevertheless, all patients with this condition should, at present, be treated as very high risk in pregnancy and the postpartum period, until reliable risk prediction tools become available. This review summarises the recent advances in the understanding of the pathophysiology of this condition, and the management strategies currently advocated.

Hepatic capsular rupture in pregnancy.

The syndrome of haemolysis, elevated liver enzymes and low platelets is a rare condition specific to pregnancy, affecting approximately 5-20% of all pre-eclamptic pregnancies. Described here is a woman in her first pregnancy, who experienced an intrauterine death following a significant hepatic haematoma and capsular rupture, in the absence of classical clinical features suggestive of pre-eclampsia. The events that followed suggested haemolysis, elevated liver enzymes and low platelets syndrome as the likely diagnosis. The patient's clinical course highlights the difficulties that may be encountered when making decisions about pregnant women with complicated medical and obstetric issues.

Pregnancy and ketoacidosis: Is pancreatitis a missing link?

Non-diabetic ketoacidosis is increasingly recognised in pregnancy, particularly during the third trimester, and is usually associated with vomiting. In many cases, the cause of the vomiting is not identified and resolves rapidly, alongside the metabolic abnormalities, following delivery. Here, we report three cases in which pancreatitis was identified as an underlying cause of the gastrointestinal symptoms. To our knowledge, these are the first reports of pancreatitis precipitating non-diabetic ketoacidosis in pregnancy. This case series highlights the importance of searching for a precipitant for non-diabetic ketoacidosis in pregnancy, rather than focusing solely on management of the resulting metabolic abnormalities.

Gastrointestinal and liver disease in pregnancy.

Gastrointestinal (GI) conditions are common in women of childbearing age. They often present before pregnancy but can arise de novo during pregnancy. The physiological changes that occur during pregnancy can influence the differential diagnosis of common GI presentations, affect the interpretation of diagnostic tests and restrict the use of diagnostic or therapeutic procedures. In this article, we summarise the clinical features, investigation and management of common GI and liver conditions that are incidental to pregnancy, and describe the specific features of pregnancy-related disorders that are less frequently encountered by general physicians. Newer developments in areas that are increasingly encountered in obstetric medical practice, including pregnancy after bariatric procedures, are also described.

Endocrine disease in pregnancy.

Endocrine disease is common in pregnancy. Most pre-existing endocrine conditions, if well controlled, have little impact on maternal or fetal morbidity. Uncontrolled endocrine conditions in pregnancy, whether poorly controlled pre-conception or newly diagnosed, are associated with a variety of adverse fetal outcomes and maternal morbidity. Also, transplacental transfer of maternal antibodies can have adverse fetal or neonatal consequences. The initial diagnosis of many conditions is hindered by the overlap of symptoms that occur in normal pregnancy and those that suggest specific endocrine pathologies, and also by the changes in reference ranges for common biochemical measurements that occur as a result of physiological changes in pregnancy. This article summarises the common endocrine disorders in pregnancy and describes how pregnancy can alter their investigation, treatment and ongoing management, as well as the potential effects on the fetus.

Starvation ketoacidosis in pregnancy.

Starvation ketosis outside pregnancy is rare and infrequently causes a severe acidosis. Placental production of hormones, including glucagon and human placental lactogen, leads to the insulin resistance that is seen in pregnancy, which in turn increases susceptibility to ketosis particularly in the third trimester. Starvation ketoacidosis in pregnancy has been reported and is usually precipitated by a period of severe vomiting. Ketoacidosis is likely to have important implications for fetal survival as ketoacidosis in women with type 1 diabetes mellitus is associated with intrauterine death. This article features four cases of women with vomiting in the third trimester of pregnancy associated with a severe metabolic acidosis. The mechanism underlying ketogenesis, the evidence for accelerated ketogenesis in pregnancy and other similar published cases are reviewed. A proposed strategy for management of these women is presented.