ATHEROSCLEROSIS AND ENDOTHELIAL DYSFUNCTION IN THALASSEMIA

In the last decades, thalassemia patients’ survival has dramatically improved thus, new disease-related and age-related comorbidities are emerging. Little is known about the impact of atherosclerotic cardiovascular disease on these patients. The 2021 European Society of Cardiology (ESC) guidelines on atherosclerotic cardiovascular disease (ASCVD) underline the importance of screening every person for ASCVD risk factors to better prevent the disease. However, only a few small studies evaluated the prevalence of ASCVD and its risk factors in thalassemia patients, and the majority are conducted in very young populations. Aim and methods This study aimed to determine ASCVD prevalence and risk factors in adult transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) patients, linking them to cardiovascular risk, endothelial function, and iron/heme parameters. Methods included clinical data, biochemical analysis, T2* MRI for iron overload, and carotid Doppler ultrasounds for plaque detection and intima-media thickness. Inflammatory and endothelial markers were assessed in a subgroup. Results We enrolled 235 patients (153 TDT, 82 NTDT). ASCVD prevalence was 15% in TDT and 20% in NTDT, increasing with age, and was more common in males. Carotid plaques were found in 7.19% of TDT and 14.4% of NTDT patients, all uncomplicated. Median ccIMT was low (0.55 mm). Patients exhibited a non-atherogenic lipid profile, hindering standard ASCVD risk score applicability. Notably, no differences in iron parameters, inflammation, or endothelial dysfunction related to ASCVD were found. Still, we discovered that sTfR, a marker of ineffective erythropoiesis, is greater in TNDT patients and in patients with atherosclerotic plaque, suggesting a possible role of ineffective erythropoiesis in atherosclerosis pathophysiology. Conclusion In conclusion, this is the largest group of beta thalassemia patients evaluated for atherosclerosis and its risk factors. Atherosclerosis-related cardiovascular disease affects about 1 out of 5 subjects in our cohort, aged 49. Thus, we suggest including the evaluation of the Carotid Doppler assessment in routine follow-up to detect ACSVD. Further studies are needed better to elucidate peculiarities such as a low lipid profile.

Grantor dc:publisher

Università degli Studi di Milano

Year dc:date

2026

Author dc:creator

• SCARAMELLINI, NATALIA

Contributors dc:contributor

• tutor: I. Motta ; coordinatore corso di dottorato: M. S. Clerici
• N. Scaramellini
• MOTTA, IRENE
• CLERICI, MARIO SALVATORE

• Settore MEDS-05/A - Medicina interna

Statement dc:rights

• info:eu-repo/semantics/embargoedAccess
• license:Creative commons
• license uri:http://creativecommons.org/licenses/by-sa/4.0/

Language dc:language

eng

Handle dc:identifier

https://hdl.handle.net/2434/1208145

OAI identifier oai:identifier

oai:air.unimi.it:2434/1208145