No evidence of increased cerebrovascular involvement in adult neurologically‐asymptomatic β‐Thalassaemia. A multicentre multimodal magnetic resonance study

Abstract

Summary Multi‐factorial causes jeopardize brain integrity in β‐thalassaemia. Intracranial parenchymal and vascular changes have been reported among young β‐thalassaemia patients but conventional magnetic resonance imaging (MRI) findings are contradictory making early MRI and magnetic resonance angiography (MRA)/venography monitoring a matter of debate. This study prospectively investigated 75 neurologically asymptomatic β‐thalassaemia patients (mean‐age 35·2 ± 10·7 years; 52/75 transfusion‐dependent; 41/75 splenectomised) using a 3T magnetic resonance scanner; clinical, laboratory and treatment data were also collected. White matter ischaemic‐like abnormalities, intracranial artery stenoses, aneurysms and sinus venous thrombosis were compared between patients and 56 healthy controls (mean‐age 33·9 ± 10·8 years). No patient or control showed silent territorial or lacunar strokes, intracranial artery stenoses or signs of sinus thrombosis. White matter lesions were found both in patients (35/75, 46·7%) and controls (28/56, 50·0%), without differences in terms of number (4·0 ± 10·6 vs. 4·6 ± 9·1, P = 0·63), size and Fazekas’ Score. Intracranial aneurysms did not differ between patients and controls for incidence rate (7/75, 9·3% vs. 5/56, 8·9%), size and site. Vascular and parenchymal abnormality rate did not differ according to treatments or clinical phenotype. According to this study, asymptomatic β‐thalassaemia patients treated according to current guidelines do not seem to carry an increased risk of brain and intracranial vascular changes, thus weakening recommendations for regular brain MRI monitoring.

Brain functional impairment in beta‐thalassaemia: the cognitive profile in Italian neurologically asymptomatic adult patients in comparison to the reported literature

“…However, all these studies lacked a concomitant control group, failing to show an effectively increased risk of parenchymal brain ischemic lesions in this disease. Indeed, we recently showed that the rate of conventional MRI vascular‐like abnormalities does not differ among TDT patients, NTDT patients and healthy controls (Tartaglione et al , ), challenging the hypothesis of a significantly increased brain vulnerability in patients treated according to the current guidelines for beta‐thalassaemia. On the other hand, a few MRI studies have suggested a possible brain tissue iron overload as a possible pathogenic mechanism of brain injury.…”

Cognition in thalassaemia: the next milestone

“…The cause and effect relationship between psychological issues and poor employment and educational achievements has yet to be unravelled. The current study is particularly discomforting since these same authors recently published a related article demonstrating that in 75 transfusion-dependent thalassaemia patients, there was no evidence of silent cerebral ischaemia or cerebral iron overload (Tartaglione et al, 2019b). Therefore, the solution does not lie within the realm of improving the medical treatment of our patients, such as even better chelation, transfusion or antithrombotic therapy.The authors call for further studies in other Mediterranean countries to verify their findings.…”

Asymptomatic intracranial aneurysms in beta-thalassemia: a three-year follow-up report

“…The latter have been found in 5/29 (17.2%) splenectomized NTDT adults in the first observational transverse MR-angiography study [7]. However, this finding was not confirmed by subsequent case-control studies which reported no cases of intracranial aneurysms in 80 thalassemia patients (transfusion dependent, NTDT and E-beta-thalassemia patients) [8] or no significantly increased incidence rate in 73 transfusion dependent and NTDT beta-thalassemia patients compared to healthy controls (9.3% vs 8.9%, respectively) [9]. Beside the unsolved issue of an increased incidence rate of intracranial aneurysms, no information is currently available regarding their natural course, whenever they are incidentally discovered.…”

“…All patients underwent non-invasive aneurysm diagnosis on the same 3 T MR-scanner (MAGNETOM Skyra, Siemens, Erlangen Germany) by means of 3D-multi-slab Time of Flight sequence (TR/TE 21/3.43 ms; voxel-size 0.6*0.6*0.7 mm; field of view 200 mm; numbers of partitions 120; number of partitions/slab 40; acquisition-time 3 min 34 s) [9].…”