Published online Jun 9, 2025. doi: 10.5409/wjcp.v14.i2.101543
Revised: February 21, 2025
Accepted: March 5, 2025
Published online: June 9, 2025
Processing time: 180 Days and 18.3 Hours
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
To identify the clinical course, treatment strategies, and outcomes of patients with hypertriglyceridemia thalassemia syndrome.
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.
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 of β-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.
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.
Core Tip: Secondary hypertriglyceridemia due to thalassemia should be considered in infants and young children who present with profound anemia and milky serum. Hemoglobin analysis and lipid profiling should be performed on both the patient and the parents to confirm the diagnosis of thalassemia and to rule out primary hypertriglyceridemia in the family. Management of patients with hypertriglyceridemia thalassemia syndrome using blood transfusions according to thalassemia guidelines has provided good outcomes. Although no hypertriglyceridemia-related complications have been observed in this review, regular monitoring of lipid profiles and potential complications - including pancreatitis, atherosclerosis, and non-alcoholic fatty liver disease - is warranted.