Liver disease, hemolytic anemia

Subnormal levels of liver enzymes, below the lower limit of normal on local laboratory reports, can be useful diagnostically. For instance, subnormal levels of aminotransferases can be observed in vitamin B6 deficiency and chronic kidney disease. Subnormal alkaline phosphatase levels may indicate the presence of hypophosphatasia, Wilson's disease, deficiencies of divalent ions, or malnutrition. Subnormal levels of gamma glutamyl transferase may be seen in cases of acute intrahepatic cholestasis, the use of certain medications, and in bone disease...

Hepatitis E virus (HEV) is a common cause of viral hepatitis worldwide. Genotypes 1 and 2 cause acute hepatitis in endemic regions (Asia and Africa), whereas genotypes 3 and 4 (America and Europe) result in sporadic acute or chronic hepatitis, specifically in certain groups. HEV infections are rising because of increased transplantation rates and immunosuppression. We report a 75-year-old heart transplant patient with nonspecific symptoms, diagnosed with HEV chronic hepatitis. Despite ribavirin-induced hemolytic anemia, the patient achieved sustained virological response and normalization of liver enzymes...

Pyruvate kinase deficiency is a rare hereditary erythrocyte enzyme disease caused by mutations in the pyruvate kinase liver and red blood cell gene. The clinical presentations of pyruvate kinase deficiency are significantly heterogeneous, ranging from just mild anemia to hemolytic crisis or even death. The proband in our study was a 2-year-old girl for severe skin and scleral icterus with progressive aggravation. We collected the family's data for further analysis. Whole exome genome sequencing of the pedigree revealed a novel compound heterozygous mutation, c...

Gallstone (GS) disease is common and arises from a combination of genetic and environmental factors. Although genetic abnormalities specifically leading to cholesterol GSs are rare, there are clinically significant gene variants associated with cholesterol GSs. In contrast, most bilirubin GSs can be attributed to genetic defects. The pathogenesis of cholesterol and bilirubin GSs differs greatly. Cholesterol GSs are notably influenced by genetic variants within the ABC protein superfamily, including ABCG8, ABCG5, ABCB4, and ABCB11, as well as genes from the apolipoprotein family such as ApoB100 and ApoE (especially the E3/E3 and E3/E4 variants), and members of the MUC family...

Thrombotic microangiopathies (TMAs) comprise a distinct group of diseases with different manifestations that can occur in both pediatric and adult patients. They can be hereditary or acquired, with subtle onset or a rapidly progressive course, and they are particularly known for their morbidity and mortality. Pregnancy is a high-risk time for the development of several types of thrombotic microangiopathies. The three major syndromes are hemolysis, elevated liver function tests, and low platelets (HELLP); hemolytic uremic syndrome (HUS); and thrombotic thrombocytopenic purpura (TTP)...

Pregnancy-associated atypical hemolytic uremic syndrome (P-aHUS) is a rare condition characterized by microangiopathic hemolytic anemia and kidney injury from thrombotic microangiopathy. P-aHUS occurs in approximately 1 in 25,000 pregnancies and is strongly related to complement dysregulation and pregnancy-related disorders, such as preeclampsia, eclampsia, and hemolysis, elevated liver enzymes, low platelet (HELLP) syndrome, resulting in adverse perinatal and fetal outcomes. Complement dysregulation in P-aHUS is commonly attributed to genetic mutations or autoantibodies affecting complement factors, including CFH , CFI , and MCP...

Zieve's syndrome is an underdiagnosed condition characterized by the triad of jaundice, hemolytic anemia, and hyperlipidemia in the setting of chronic alcohol use. It may be accompanied by acute alcoholic hepatitis. The distinction between the coexistence of acute alcoholic hepatitis with Zieve's syndrome and Zieve's syndrome in isolation is crucial, given the different treatments and prognoses in these situations. A 35-year-old woman presented with complaints of abdominal discomfort, nausea, and vomiting in the previous week...

Pyruvate kinase (PK) deficiency is a rare, hereditary disease characterized by chronic hemolytic anemia. Iron overload is a common complication regardless of age, genotype, or transfusion history. Mitapivat, an oral, allosteric PK activator, improves anemia and hemolysis in adult patients with PK deficiency. Mitapivat's impact on iron overload and ineffective erythropoiesis was evaluated in adults with PK deficiency who were not regularly transfused in the phase 3 ACTIVATE trial and long-term extension (LTE) (NCT03548220/NCT03853798)...

(1) Background: Congenital erythropoietic porphyria (CEP), named Günther's disease, is a rare recessive type of porphyria, resulting from deficient uroporphyrinogen III synthase (UROS), the fourth enzyme of heme biosynthesis. The phenotype ranges from extremely severe perinatal onset, with life-threatening hemolytic anaemia, to mild or moderate cutaneous involvement in late-onset forms. This work reviewed the perinatal CEP cases recorded in France in order to analyse their various presentations and evolution...

Wilson's disease (WD) is an autosomal recessive disorder affecting the metabolism of copper that can present with a variety of clinical symptoms. Low levels of serum copper and ceruloplasmin, increased excretion of copper in the urine, and/or increasing quantities of copper in the liver are diagnostic indicators. The gold standard for diagnosis is genetic testing. The care approach includes the utilization of liver transplants as a therapeutic option in advanced patients and the use of copper-chelating medications...

INTRODUCTION: For a large variety of liver pathologies, the plasma unconjugated (UB) and conjugated (CB) bilirubin concentrations appear to be coupled. For example, in alcoholic cirrhosis, UB and CB are roughly the same over a large range of total bilirubin, requiring an initial massive increase (about 40-fold) in plasma CB to reach the level of UB and then similar increases in UB and CB as the disease progresses. This coupling has been either unrecognized or ignored and this paper is the first attempt to try to explain it quantitatively in terms of known hepatic cell metabolic and membrane transport properties...

Severe hemolytic disease of the fetus and newborn (HDFN) requiring intrauterine transfusions (IUTs) may cause iron accumulation, resulting in liver damage, which may lead to cholestasis and coagulation disorders. In this article, we reported a case of a female neonate who underwent chelation therapy with a positive outcome, and we reviewed the English and Polish literature on chelation therapy in HDFN available in PubMed. The patient with maximum ferritin concentration above 33,511.2 ng/mL developed liver dysfunction with coagulation disorders requiring multiple transfusions of fresh frozen plasma (FFP), Octaplex® and cryoprecipitate, and hypoalbuminemia treated with numerous albumin infusions...

RATIONALE: Sickle cell disease, a debilitating genetic disorder affecting numerous newborns globally, has historically received limited attention in pharmaceutical research. However, recent years have witnessed a notable shift, with the Food and Drug Administration approving three innovative disease-modifying medications. Voxelotor, also known as GBT440, is a promising compound that effectively prevents sickling, providing a safe approach to alleviate chronic hemolytic anemia in sickle cell disease...

Liver involvement is commonly seen in various haematological disorders. They present clinically with elevation of liver enzymes and organomegaly, with or without mass lesions. However, liver involvement may be silent in many hematological disorders or there may be specific findings in liver biopsy that can lead to the diagnosis of clinically inapparent hematological disorders. Present review highlights features of hepatic manifestations in various hematological diseases with special emphasis on histopathological findings...

In this report, we present the case of vanishing bile duct syndrome in the setting of classical Hodgkin lymphoma. Vanishing bile duct syndrome was diagnosed retrospectively in this patient with Hodgkin lymphoma, who initially presented with a hepatic abnormality presumed to be drug induced. Vanishing bile duct syndrome is characterized by the disappearance of bile ducts, with the progressive damage resulting in cholestasis. Thus, nivolumab therapy was initiated for Hodgkin lymphoma, in place of the standard ABVD (Doxorubicin, bleomycin, vinblastine, dacarbazine) regimen, which resulted in autoimmune hemolytic anemia...

RATIONALE: Thrombotic microangiopathy (TMA) is a spectrum of rare diseases characterized by thrombocytopenia, microangiopathic hemolytic anemia, and organ damage. Differentiating pre-eclampsia, HELLP (Hemolysis, Elevated Liver enzymes, Low Platelets) syndrome and atypical hemolytic uremic syndrome (aHUS) during pregnancy may be diagnostically challenging yet important as the treatment pathways differ. Most cases of aHUS are associated with dysregulation of the complement alternative pathway, for which current guidelines recommend prompt treatment with complement C5 inhibitor to prevent chronic sequelae...

PURPOSE: Ethyl glucuronide (EtG), ethyl sulfate (EtS) and phosphatidylethanol (PEth) are considered specific direct biomarkers for detecting alcohol consumption. However, PEth, which is produced in red blood cells (RBC), varies considerably between patients for unknown reasons. We here studied various confounders of PEth elimination including fibrosis after alcohol withdrawal. PATIENTS AND METHODS: EtG, EtS and PEth together with routine laboratory and clinical parameters were studied in 100 Caucasian heavy drinkers prior and after alcohol detoxification...

We report the case of a 71-year-old African American male with a history of chronic obstructive pulmonary disease (COPD), heart failure, vitiligo, penicillin allergy, and cocaine use, who presented with respiratory symptoms and was diagnosed with sepsis, COVID-19 pneumonia, exacerbation of COPD, and acute kidney injury (AKI). Treatment included antibiotics and high-dose steroids. The patient developed thrombocytopenia, autoimmune hemolytic anemia, acute liver failure, and interstitial nephritis associated with prolonged ibuprofen use...

Typical or atypical presentations of rare diseases may be confounded by co-morbidities in critically-ill patients. It is imperative to diagnose and treat appropriately, despite this difficulty. Scleroderma renal crisis mimics many other conditions, and can be potentially fatal if not caught early enough. Particularly, in critically-ill patients with multiple pathologies, it can be difficult to distinguish scleroderma renal crisis from other diseases, such as thrombotic thrombocytopenic purpura (TTP), hypertensive emergency, posterior reversible encephalopathy syndrome (PRES), or atypical hemolytic uremic syndrome (HUS)...

Hepatitis A virus (HAV) represents a global burdening infectious agent causing in the majority of cases a self-limiting acute icteric syndrome, the outcome is related to the hepatic substrate and the potential pre-existing damage, whereas a plethora of extra-hepatic manifestations has also been reported. Despite the absence of post- HAV chronicity it has been associated with an additional burden on existing chronic liver diseases. Moreover, the induced immune response and the antigenic molecular mimicry are considered as triggering factors of autoimmunity with regional and distal impact...