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Hyperferritinemia and iron overload in type 1 Gaucher disease.

Hyperferritinemia occurs in Gaucher disease but its clinical spectrum or its association with systemic iron overload and HFE mutations are not known. In 114 patients with Type 1 Gaucher disease, we determined serum ferritin, transferrin saturation and HFE genotype. The results were correlated with the extent of hepatosplenomegaly, overall Gaucher disease severity score index, and response to enzyme replacement therapy. In a subset of patients with radiological and/or laboratory evidence of systemic iron overload, liver biopsy was performed. There was a mean 3.7-fold elevation of serum ferritin…

Liver failure with marked hyperferritinemia: 'ironing out' the diagnosis.

Hemophagocytic lymphohistiocytosis (HLH) may manifest as neonatal liver failure characterized by hepatosplenomegaly, profound coagulopathy, ascites and hyperbilirubinemia. Marked hyperferritinemia may be present in these patients, mimicking perinatal hemochromatosis. Tissue specimens are critical in distinguishing these two diseases and in directing management. Clinical recognition and diagnosis of HLH can be difficult but are crucial for appropriate therapy and genetic counselling. Liver transplantation is absolutely contraindicated for patients with HLH but may be the only life-saving treatm…

Hyperferritinemia in hospitalized children with dengue-a prospective observational study.

Dengue is a major cause of pediatric hospitalization in tropical countries and low- and middle-income countries (LMICs), where early recognition of severe disease remains challenging. Severe dengue is characterized by dysregulated immune activation and systemic inflammation, leading to organ dysfunction. Ferritin, an acute-phase reactant, has been increasingly studied as a potential biomarker of dengue severity, although pediatric data from LMIC settings remain limited. The aim of this study was to assess the prevalence of hyperferritinemia among children admitted with dengue with warning sign…

Hyperferritinemia worsens the perinatal outcomes of conceptions of pregnancies with preeclampsia.

BACKGROUND AND AIMS: To analyze the prevalence of hyperferritinemia in pregnant women with preeclampsia and its association with adverse perinatal outcomes. METHODS: A cross-sectional study carried out in 2017 with a convenience sample of pregnant women with preeclampsia attended at a high-risk maternity hospital in Alagoas, Brazil. Socioeconomic, lifestyle, clinical and biochemical data were collected through a structured questionnaire. Type of delivery, gestational age, weight and length at birth, and Apgar score were analyzed as outcome variables. Women were dichotomized according to the s…

Marked hyperferritinemia does not predict for HLH in the adult population.

Hemophagocytic lymphohistiocytosis (HLH) is a rare syndrome of uncontrolled immune activation that has gained increasing attention during the last decade. The diagnosis of HLH is based on a constellation of clinical and laboratory abnormalities, including elevated serum ferritin levels. In the pediatric population, marked hyperferritinemia is specific for HLH. To determine what conditions are associated with profoundly elevated ferritin in the adult population, we performed a retrospective analysis in a large academic health care system. We identified 113 patients with serum ferritin levels hi…

Coxiella burnetii Infection With Severe Hyperferritinemia in an Asplenic Patient.

Q fever is an uncommon but likely underreported zoonotic infection. Severe hyperferritinemia has been associated with hemophagocytic lymphohistiocytosis and other infectious diseases. In this study, we report a case of Coxiella burnetii infection in an asplenic patient complicated by severe hyperferritinemia and bone marrow infiltration. In this case, the marked ferritin elevation may have been an indicator of profound systemic macrophage activation due to preferential intracellular infection of this cell type by C burnetii, perhaps exacerbated by altered mononuclear phagocyte system function …

sCD163 in AOSD: a biomarker for macrophage activation related to hyperferritinemia.

Ferritin has a key role in Adult-onset Still's disease (AOSD). Its production seems related to macrophage activation of which sCD163 is a ma … y in AOSD. The correlation with ferritin may lead to hypothesize a macrophage activation related to hyperferritinemia. Ferritin was found expressed only in the B area of the AOSD lymph-node, suggesting a role for this molecule as an antigen in the disease pathogenesis.

Hyperferritinemia in adult onset Still's disease and the hemophagocytic syndrome.

Increments in serum ferritin levels in adult onset Still's disease (AOSD) were reported to be higher than one could expect for a simple inflammatory state. When we analyzed the scores of 40 patients with various severe inflammatory diseases aside from AOSD, we recorded no serum ferritin values higher than 3,300 ng/ml (N less than 200 ng/ml). In 3 of 10 consecutive patients with AOSD, the ferritin levels were higher than 3,500. Among these 3 patients, one case had a ferritin value of 3,600 ng/ml and bone marrow aspirate showed a marked hyperplasia of mature appearing histiocytes, and the 2 othe

Hyperferritinemia and non-HFE hemochromatosis: differential diagnosis and workup.

Hyperferritinemia is a common reason for referral to a hepatogastroenterologist. The most frequent causes are not associated with iron overload (e.g. inflammatory diseases, alcohol abuse, metabolic syndrome, etc.). However, hyperferritinemia can also be caused by a genetic variant in one of the iron regulatory genes, called hereditary hemochromatosis, often but not always associated with iron overload. A variation in the human Hemostatic Iron Regulator protein (HFE) gene is the most common genotype, but many other variants have been described. In this paper we discuss two cases of rare hyperfe…

Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness: a diagnostic challenge.

Neonatal conjugated hyperbilirubinemia is a diagnostic challenge. A full term, small for gestational age boy presented with cholestasis, hypoglycemia, hyperferritinemia and severe bilateral deafness. Diagnostic work-up revealed two hereditary diseases: alpha-1-antitrypsin deficiency (PI*ZZ genotype) and autosomal recessive deafness type 3 (compound heterozygous MYO15A gene mutation). In addition, we found late hypoglycemia on full enteral feeding which complicated this case. Hyperferritinemia is an uncommon finding in newborn cholestasis without liver failure.

Hereditary Hyperferritinemia-Cataract Syndrome: A Pediatric Case Without Congenital Cataract.

The differential diagnosis for hyperferritinemia is wide, including malignancy, infections, autoimmune disorders, hemophagocytic lymphohistiocytosis, hyperthyroidism, chronic kidney disease, and, most commonly, iron overload. As an acute-phase reactant, ferritin is usually elevated due to secondary causes. In rare circumstances, however, ferritin levels may be primarily elevated due to a genetic cause. We report a case of a three-year-old male patient with incidentally detected hyperferritinemia who was found to harbor the c.-168G>T mutation in the FTL gene, confirming hereditary hyperferritin…

Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.

PURPOSE: Hereditary hyperferritinemia cataract syndrome (HHCS), an autosomal-dominant disorder characterized by hyperferritinemia and bilateral cataracts, is caused by mutations in the iron-responsive element of the ferritin light chain (FTL) gene. The purpose of this study is to describe the genotypic and phenotypic manifestations of HHCS observed in 2 large sets of unrelated American families. METHODS: Forty-five patients were recruited from 2 unrelated families. Each underwent ophthalmological and general physical evaluation as well as laboratory testing of serum ferritin, iron, transferri…

Hyperferritinemia in reactive hemophagocytic syndrome report of four adult cases.

Four patients were diagnosed with reactive hemophagocytic syndrome (RHPS) during a 7 month period. Of these, three patients were diagnosed w … ), and hemophagocytic histiocytosis in smears of bone marrow aspirate were present in all patients. Hyperferritinemia (> 10,000 ng/ml) was present in all (range 34,976 to 425,984 ng/mL) and showed a decrease in the two patients who responded to therapy. Hyperferritinemia (> 10,000 ng/ml) and elevated serum LDH (> 1,000 IU/L) are important clues to the diagnosis of …

Эпинефрин как терапевтический агент по гиперферритинемии в диабете и гипертенции.

ПЕРВЫЙ РАЗДЕЛ НЕИЗБИРАТЕЛЬНОГО БЕДСТВИЯ, ИСПОЛЬЗУЕМОГО 21st Пандемия века. Тип 2 диабет (T2DM) является результатом повышенного сопротивления инсулину (IR) или относительного дефицита инсулина. IR препятствует удалению глюкозы, что приводит к компенсационному гиперинсулимическому состоянию. Увеличение запасов железа, нашедшее отражение в высокой сыворотке феррита (SF), было связано с разработкой T2DM и оказывает воздействие на глюкозу гомеостаз, ослабляя реакцию тканей на инсулин. Железная перегрузка (IO) широко распространена в основной гипертонии (HTN). Первый клинический эффект эпинефрина н

Совпадение в аннотации оригинала
BACKGROUND Diabetes mellitus was the first non-communicable disease to be recognized as a 21st century pandemic. Type 2 diabetes (T2DM) resu … m severe COVID-19 infection. CASE REPORT A patient with T2DM, HTN, and dyslipidemia associated with hyperferritinemia received the conventional treatment of T2DM and HTN, with a poor control of hyperglycemia and HTN. Since the patient had elevated SF, we obtained informed written consent for epinephrine's use to lower SF. Epinephrine 0.6 mcg/kg was injected subcuta …

Hyperferritinemia is a risk factor for steatosis in chronic liver disease.

AIM: To investigate the relationship between ferritin and steatosis in patients with chronically abnormal liver function tests (LFTs) and high ferritin level. METHODS: One hundred and twenty-four consecutive patients with hyperferritinemia (male > 300 ng/mL, female > 200 ng/mL) were evaluated; clinical, biochemical and serological data, iron status parameters, HFE gene mutations and homeostasis model assessment score were obtained. Steatosis was graded by ultrasound as absent or present. Histology was available in 53 patients only. RESULTS: Mean level of ferritin was 881 +/- 77 ng/mL in men …

[Hyperferritinemia in Still syndrome in the adult and reactive hemophagocytic syndrome].

This report describes the fatal outcome of a case of adult onset Still's disease in a 46-year old man. The diagnosis was made according to the 1992 criteria, proposed by Yamaguchi. Nine months after the initial disease manifestations a rapid deterioration with progressive hepatosplenomegaly developed. In parallel, pancytopenia and marked hyperferritinemia could be detected. Transjugular liver biopsy revealed the presence of a hemophagocytic syndrome. The course of the disease was refractory to any form of treatment and the patient died from disseminated intravascular coagulation, hepatic and p…

Hereditary Hyperferritinemia-Cataract Syndrome in a Family With HFE-H63D Mutation.

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare genetic condition characterized by persistent hyperferritinemia (usually ferritin >1,000 ng/mL) without tissue iron overload, with or without early-onset slow-progressing bilateral nuclear cataract. It was first identified as a new genetic disorder in 1995, and since then genetic sequencing studies have been carried out to identify associated mutations in affected families. New mutations around the world are still being reported in the iron-responsive element (IRE) of the L-ferritin gene (FTL) to this day. Many clinicians remain u…

Generalized pruritus as a symptom of hyperferritinemia: A case report and review of the literature.

Generalized pruritus can be the manifestation of many dermatologic and systemic diseases. However, it has been reported infrequently in the literature as a consequence of hyperferritinemia. We report the case of a 70-year-old male presenting to dermatology due to generalized pruritus in the absence of a rash, who was subsequently found to have a significantly elevated serum ferritin and transferrin saturation with otherwise normal iron studies. Hereditary hemochromatosis was ruled out on genetic testing; however, etiologies of secondary iron overload including alcohol use disorder and non-alco…

Hyperferritinemia in Severe Dengue Infection: Single-Center Retrospective Cohort Study.

OBJECTIVES: Hyperferritinemia in the critical phase of dengue infections may correlate with severe dengue ( sd ) disease, and our primary objective was to examine the association between ferritin level on day 1 of PICU admission and 2009 World Health Organization (WHO) criteria for sd . Our secondary objective was outcome in relation to care. It is unclear whether immunomodulatory therapy during the critical phase may restore immune homeostasis and mitigate disease severity. DESIGN, SETTING, AND PATIENTS: Retrospective cohort study of children with dengue 1 month to 16 years old with admissio…