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Query: UMLS:C0015695 (fatty liver)
 13,941 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitochondrial fatty acid oxidation disorders (FAOD) are recessively inherited errors of metabolism. Newborns with FAOD typically present with hypoketotic hypoglycemia, metabolic acidosis, hepatic failure, and cardiomyopathy. Late presentations include episodic myopathy, neuropathy, retinopathy, and arrhythmias. Sudden unexpected death can occur at any age and can be confused with sudden infant death syndrome. Some FAOD are associated with intrauterine growth restriction, prematurity, and pregnancy complications in the heterozygous mother, such as severe preeclampsia, acute fatty liver of pregnancy (AFLP), or hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Maternal pregnancy complications occur primarily in mothers carrying a fetus with long-chain l-3-hydroxyacyl CoA dehydrogenase deficiency or general trifunctional protein deficiencies. FAOD as a group represent the most common inborn errors of metabolism, and presymptomatic diagnosis of FAOD is the key to reduce morbidity and avoid mortality. The application of tandem mass spectrometry to newborn screening provides an effective means to identify most FAOD patients presymptomatically. At the beginning of 2005, 36 state newborn screening programs have mandated or adopted this technology resulting in a marked increase in the number of asymptomatic neonates with FAOD diagnosed. To ensure the long-term benefits of such screening programs, pediatricians and other health care providers must be educated about these disorders and their treatment.
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PMID:Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. 1581 98

Fetal defects in mitochondrial beta-oxidation have been linked with an increased risk for acute fatty liver of pregnancy and preeclampsia-related conditions. A woman with previously undiagnosed carnitine palmitoyltransferase 1 deficiency experienced hemolysis, elevated liver enzymes, low platelets-like syndrome late in her first pregnancy with an unaffected fetus. Carnitine palmitoyltransferase 1 deficiency should be considered as a potential cause of life-threatening complications of pregnancy.
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PMID:Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency. 1597 Aug 98

The thrombotic thrombocytopenic purpura syndrome (TTP) can be mistaken for a number of other conditions, and it is important to diagnose correctly and treat appropriately. We describe the features of TTP that can help make a positive diagnosis and other conditions in the differential diagnosis with symptoms that can overlap and mimic those of TTR. We discuss TTP and its variants, hemolytic uremic syndrome, disseminated intravascular coagulation, heparin-induced thrombocytopenia, antiphospholipid syndrome, Evans syndrome, preeclampsia/eclampsia, HELLP syndrome, acute fatty liver of pregnancy, and multiorgan failure.
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PMID:Thrombotic thrombocytopenic purpura and its look-alikes. 1649 32

HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome is a severe, life-threatening pregnancy pathology, which occurs in 0.2-0.8% of all pregnancies, and approximately 10% (2-20%) of pregnancies are complicated with severe preeclampsia. This syndrome usually develops in the third trimester of pregnancy in preeclamptic patients, sometimes it occurs in the second trimester of pregnancy, and very rarely HELLP syndrome may develop within 48-72 hours after delivery. Diagnosis is complicated as there are no specific clinical signs, therefore, this syndrome may be confused with other pathologies like acute fatty liver of pregnancy, idiopathic thrombocytopenia, hemolytic uremic syndrome, appendicitis, and etc. The patients with HELLP syndrome should be treated in the tertiary care hospital, where appropriate diagnostics and multidisciplinary help for mother and fetus can be assured. When the syndrome was described for the first time, L. Weinstein recommended prompt delivery as the only possible treatment. Current studies show that conservative treatment of patients with HELLP syndrome is safe, without an increase in morbidity and mortality. That is why now many authors agree that treatment approach should be based on the estimated gestational age and the condition of the mother and fetus.
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PMID:[Hemolysis, elevated liver enzymes, and low platelet count syndrome]. 1702 66

Gestational diabetes insipidus (GDI) is a rare disorder characterised by polyuria, polydypsia, and excessive thirst usually manifesting in the third trimester of pregnancy. The etiology is thought to depend on excessive vasopressinase activity, a placental enzyme that degrades arginine-vasopressin (AVP), but not 1-deamino-8-D: -arginine vasopressin (dDAVP), which is a synthetic form. This is a transient syndrome and may be associated with acute fatty liver of pregnancy and preeclampsia. The use of dDAVP in symptomatic cases has been proven as a safe method for both the mother and the fetus during the pregnancy. We report a case of recurrent gestational diabetes insipidus in successive pregnancies, which responded to dDAVP and subsided after delivery.
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PMID:Transient gestational diabetes insipidus diagnosed in successive pregnancies: review of pathophysiology, diagnosis, treatment, and management of delivery. 1730 61

There are several obstetric, medical, and surgical disorders that share many of the clinical and laboratory findings of patients with severe preeclampsia-hemolysis, elevated liver enzymes, and low platelets syndrome. Imitators of severe preeclampsia-hemolysis, elevated liver enzymes, and low platelets syndrome are life-threatening emergencies that can develop during pregnancy or in the postpartum period. These conditions are associated with high maternal mortality, and survivors may face long-term sequelae. Perinatal mortality and morbidity also remain high in many of these conditions. The pathophysiologic abnormalities in many of these disorders include thrombotic microangiopathy, thrombocytopenia, and hemolytic anemia. Some of these disorders include acute fatty liver of pregnancy, thrombotic thrombocytopenic purpura, hemolytic uremic syndrome, and acute exacerbation of systemic lupus erythematosus. Because of the rarity of these conditions during pregnancy and postpartum, the available literature includes only case reports and case series describing these syndromes. Consequently, there are no systematic reviews or randomized trials on these subjects. Differential diagnosis may be difficult due to the overlap of several clinical and laboratory findings of these syndromes. It is important that the clinician make the accurate diagnosis when possible because the management and complications from these syndromes may be different. For example, severe preeclampsia and acute fatty liver of pregnancy are treated by delivery, whereas it is possible to continue pregnancy in those with thrombotic thrombocytopenic purpura-hemolytic uremic syndrome and exacerbation of systemic lupus erythematosus. This review focuses on diagnosis, management, and counseling of women who develop these syndromes based on results of recent studies.
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PMID:Imitators of severe preeclampsia. 1740 Aug 60

Diabetes insipidus is an uncommon pathology; its incidence varies from two to six cases in 100,000 pregnancies. It has multiple etiologies and it is classified in central and neurogenic. Patients with diabetes insipidus generally show intense thirst, polyuria, neurologic symptoms and hypernatremia. It does not seem to alter the patient's fertility. Diabetes insipidus is usually associated with pre-eclampsia, HELLP syndrome, and fatty liver disease of pregnancy. This is a report of a case seen at the Hospital General de Cholula, in Puebla, Mexico. A 19 year-old female, with 37.2 weeks of pregnancy, had a history of Langerhans cell histiocytosis since she was four years. Patient was treated with intranasal desmopressin until 2005. She went to an obstetric evaluation; laboratory and cabinet studies were obtained. A healthy 1900 g female was obtained through vaginal delivery, with a 7/9 Apgar score. We should be familiarized with this uncommon pathology because of its association with several obstetric emergencies.
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PMID:[Diabetes insipidus and pregnancy]. 1784 3

Preeclampsia is a multifactorial pregnancy-specific disease. In some cases, severe preeclampsia and related disorders of acute fatty liver of pregnancy and hemolysis, elevated liver enzymes, low platelets syndrome are associated with inherited defects in mitochondrial beta-oxidation of fatty acids, especially a deficiency of long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD). Recently, an unexplained increase in the incidence of preeclampsia has been documented in human immunodeficiency virus (HIV)-infected pregnant women on treatment with highly active antiretroviral therapy (HAART). We performed this study to determine if antiretroviral drugs affect mitochondrial beta-oxidation fatty acids in vitro. Two normal and 1 heterozygous LCHAD-deficient cell lines were exposed to up to 5 times the therapeutic concentrations of the following antiretroviral drugs: nevirapine, didanosine, lamivudine, and a combination of nelfinavir, zidovudine, and lamivudine. One homozygous LCHAD-deficient cell line served as the positive control. After exposure of the fibroblasts to these drugs for periods ranging from 2 to 10 days, accumulations of even-chain 3-hydroxy fatty acids (3-OH-C6 to 3-OH-C18) in the culture media were measured by stable-isotope dilution gas chromatography/mass spectrometry. Compared to the respective unexposed fibroblasts, there was no significant build-up of 3-hydroxy fatty acids in the culture media of normal or heterozygous LCHAD-deficient fibroblasts exposed to antiretroviral drugs. Our results show that the commonly used antiretroviral drugs do not adversely affect fatty acid oxidation in fibroblasts. Therefore, an altered fatty acid oxidation may not be the mechanism for the reported increased risk of preeclampsia in HIV-infected pregnant women on HAART.
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PMID:Highly active antiretroviral therapy does not affect mitochondrial beta-oxidation of fatty acids: an in vitro study in fibroblasts. 1824 Aug 71

Few clinical diagnoses of acute fatty liver of pregnancy (AFLP) are established immediately upon admission, while anesthetic interventions are frequently required on an emergent basis. We report a patient with the admitting diagnosis of severe preeclampsia with fetal distress necessitating an emergency cesarean section. An epidural block was instituted before laboratory data were available. Rapid changes of coagulation profiles occurred after delivery. The peripartum anesthetic care of the pregnant woman is presented. AFLP was confirmed by liver needle biopsy 26 days later. Taking our case as an examplification, clinicians must have a high suspicion that AFLP may exist in concurrence with preeclampsia when a parturient presents manifestations of nausea, jaundice, elevated bilirubin, elevated liver enzyme activities, prolonged PT and PTT, or thrombocytopenia.
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PMID:Anesthesia for emergency cesarean section in a parturient with undiagnosed acute fatty liver of pregnancy--a case report. 1825 Dec 43

Liver disorders associated with pregnancy include hyperemesis gravidarum (HG), intrahepatic cholestasis of pregnancy (ICP), preeclampsia, syndrome of hemolysis, elevated liver enzymes and low platelets (HELLP), and acute fatty liver of pregnancy (AFLP). These conditions are relatively common and unique to pregnancy and are more likely to occur at certain terms of gestation specific to each condition. They can be associated with significant maternal and fetal morbidity and mortality. Although managing such patients may be very challenging, spontaneous resolution of the disease occurs shortly after termination of the pregnancy, usually without hepatic sequellae. Early diagnosis and timely treatment is a key to therapeutic success. This article explores the clinical features, pathophysiology, and management of these disorders.
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PMID:Pregnancy-associated liver disorders. 1825 34


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