BACKGROUND Hypertriglyceridemia thalassemia syndrome is a rare condition that occurs in patients with thalassemia.It typically presents with a combination of profound anemia and milky serum.Although previous case seri...BACKGROUND Hypertriglyceridemia thalassemia syndrome is a rare condition that occurs in patients with thalassemia.It typically presents with a combination of profound anemia and milky serum.Although previous case series have demonstrated the benefit of blood transfusions in reducing serum triglycerides,information regar-ding clinical outcomes and standard management in this setting remains limited.AIM To identify the clinical course,treatment strategies,and outcomes of patients with hypertriglyceridemia thalassemia syndrome.METHODS We performed a comprehensive search of the Scopus,PubMed,and Embase databases.We included only English-language articles and did not apply any publication date limits.The databases were last accessed on September 1,2024.This study was registered under number CRD420250587918 and included studies involving children and adults with thalassemia,hypertriglyceridemia,and available data on clinical course.RESULTS A total of 14 publications were included in the analysis,all of which were case reports or case series.No higher-quality evidence was available.Among 28 children with hypertriglyceridemia thalassemia syndrome,there were 22 cases ofβ-thalassemia major and 6 cases of hemoglobin E/β-thalassemia,including our illustrative case.The median age of onset was 11 months,and 92.3%of cases presented prior to the first blood transfusion.The common clinical manifestations included pallor(100%)and hepatosplenomegaly(67.9%).For hypertriglyceridemia-related symptoms,lipemia retinalis and xanthomas were observed in 25.0%and 10.7%of cases,respectively.The median hemoglobin level was 5.5 g/dL,while the median triglyceride level was 935 mg/dL.For management,92.9%of cases received blood transfusions with or without other interventions.At a median of 12 months’follow-up,all patients responded to the treatment without lipid-lowering agents,and 85.7%of cases were alive.CONCLUSION Hypertriglyceridemia thalassemia syndrome occurs exclusively in young children and usually presents with anemia and severe hypertriglyceridemia prior to the first transfusion.Management with blood transfusions provides a favorable response.However,long-term regular monitoring is warranted.展开更多
BACKGROUND Type B lactic acidosis and hypoglycemia can occur in various pediatric conditions.In young children with a history of fasting preceding these metabolic derangements,inborn errors of metabolism should be pri...BACKGROUND Type B lactic acidosis and hypoglycemia can occur in various pediatric conditions.In young children with a history of fasting preceding these metabolic derangements,inborn errors of metabolism should be primarily considered.However,the Warburg effect,a rare metabolic complication,can also manifest in children with hematologic malignancies.Only a few reports of this condition in children have been published in the literature.AIM To identify the clinical course,treatment strategies,and outcomes of childhood hematologic malignancies with type B lactic acidosis.METHODS We performed a comprehensive search of the PubMed,Scopus,and Cochrane databases without any time restriction but limited to English language articles.The databases were last accessed on July 1st,2023.RESULTS A total of 20 publications were included in the analysis,all of which were case reports or case series.No higher quality evidence was available.Among children with hematologic malignancies and Warburg effect,there were 14 cases of acute lymphoblastic leukemia and 6 cases of non-Hodgkin’s lymphoma including our illustrative case.Lactic acidosis occurred in 55%of newly diagnosed cases and 45%of relapsed cases.The mean age was 10.3±4.5 years,and 80%of cases were male.The mean serum lactate was 16.9±12.6 mmol/L,and 43.8%of the cases had concomitant hypoglycemia.Lactic acidosis initially subsided in 80%of patients receiving chemotherapy compared to 60%in the contrast group.The mortality rate of newly diagnosed cases was 45.5%,while the relapsed cases represented a 100%mortality rate.All 8 patients reported before 2001 died from disease-related complications.However,patients described in reports published between 2003 and 2023 had a 54.5%rate of complete remission.CONCLUSION This complication has historically led to fatal outcome;however,patients who received chemotherapy showed a more favorable response.Therefore,it is crucial to promptly initiate specific treatment in this context.展开更多
文摘BACKGROUND Hypertriglyceridemia thalassemia syndrome is a rare condition that occurs in patients with thalassemia.It typically presents with a combination of profound anemia and milky serum.Although previous case series have demonstrated the benefit of blood transfusions in reducing serum triglycerides,information regar-ding clinical outcomes and standard management in this setting remains limited.AIM To identify the clinical course,treatment strategies,and outcomes of patients with hypertriglyceridemia thalassemia syndrome.METHODS We performed a comprehensive search of the Scopus,PubMed,and Embase databases.We included only English-language articles and did not apply any publication date limits.The databases were last accessed on September 1,2024.This study was registered under number CRD420250587918 and included studies involving children and adults with thalassemia,hypertriglyceridemia,and available data on clinical course.RESULTS A total of 14 publications were included in the analysis,all of which were case reports or case series.No higher-quality evidence was available.Among 28 children with hypertriglyceridemia thalassemia syndrome,there were 22 cases ofβ-thalassemia major and 6 cases of hemoglobin E/β-thalassemia,including our illustrative case.The median age of onset was 11 months,and 92.3%of cases presented prior to the first blood transfusion.The common clinical manifestations included pallor(100%)and hepatosplenomegaly(67.9%).For hypertriglyceridemia-related symptoms,lipemia retinalis and xanthomas were observed in 25.0%and 10.7%of cases,respectively.The median hemoglobin level was 5.5 g/dL,while the median triglyceride level was 935 mg/dL.For management,92.9%of cases received blood transfusions with or without other interventions.At a median of 12 months’follow-up,all patients responded to the treatment without lipid-lowering agents,and 85.7%of cases were alive.CONCLUSION Hypertriglyceridemia thalassemia syndrome occurs exclusively in young children and usually presents with anemia and severe hypertriglyceridemia prior to the first transfusion.Management with blood transfusions provides a favorable response.However,long-term regular monitoring is warranted.
文摘BACKGROUND Type B lactic acidosis and hypoglycemia can occur in various pediatric conditions.In young children with a history of fasting preceding these metabolic derangements,inborn errors of metabolism should be primarily considered.However,the Warburg effect,a rare metabolic complication,can also manifest in children with hematologic malignancies.Only a few reports of this condition in children have been published in the literature.AIM To identify the clinical course,treatment strategies,and outcomes of childhood hematologic malignancies with type B lactic acidosis.METHODS We performed a comprehensive search of the PubMed,Scopus,and Cochrane databases without any time restriction but limited to English language articles.The databases were last accessed on July 1st,2023.RESULTS A total of 20 publications were included in the analysis,all of which were case reports or case series.No higher quality evidence was available.Among children with hematologic malignancies and Warburg effect,there were 14 cases of acute lymphoblastic leukemia and 6 cases of non-Hodgkin’s lymphoma including our illustrative case.Lactic acidosis occurred in 55%of newly diagnosed cases and 45%of relapsed cases.The mean age was 10.3±4.5 years,and 80%of cases were male.The mean serum lactate was 16.9±12.6 mmol/L,and 43.8%of the cases had concomitant hypoglycemia.Lactic acidosis initially subsided in 80%of patients receiving chemotherapy compared to 60%in the contrast group.The mortality rate of newly diagnosed cases was 45.5%,while the relapsed cases represented a 100%mortality rate.All 8 patients reported before 2001 died from disease-related complications.However,patients described in reports published between 2003 and 2023 had a 54.5%rate of complete remission.CONCLUSION This complication has historically led to fatal outcome;however,patients who received chemotherapy showed a more favorable response.Therefore,it is crucial to promptly initiate specific treatment in this context.
