Diagnostic et traitement de l’amylose à chaîne légère (AL) en 2022
Résumé
L’amylose à chaîne légère (AL) est une maladie rare, progressive et généralement mortelle (lorsqu’elle est avancée), caractérisée par un dysfonctionnement des organes, secondaire au dépôt de fibrilles mal repliées des immunoglobulines de chaînes légères produites par des plasmocytes clonaux ou par des cellules B. Bien que moins de 10 % des patients atteints de l’AL répondent aux critères CRAB d’un myélome symptomatique (élévation du Calcium, dysfonctionnement Rénal Anémie et maladie des os « Bone »), la majorité de ces patients présentent une altération significative des organes vitaux, tels que le cœur, les reins et le foie. Cela implique que les facteurs de risques habituellement utilisés pour l’évaluation du myélome multiple (MM) ne sont pas applicables à l’amylose AL. L’amylose à chaîne légère touche 8 à 12 individus par million de personnes par an et sa présentation clinique varie selon le nombre et l’étendue des organes vitaux touchés. Les sites de dépôt amyloïde peuvent varier d’un patient à l’autre, contribuant ainsi à une hétérogénéité des manifestations cliniques. Le cœur et le rein, qui sont les organes les plus touchés, peuvent entraîner une insuffisance rénale, une cardiomyopathie et des épanchements péricardiques et pleuraux. Les premiers symptômes qui apparaissent sont souvent non spécifiques (p. ex. perte de poids, fatigue). Malgré les progrès réalisés dans les outils de diagnostic et les options de traitement, le taux de mortalité précoce reste élevé; la mortalité attendue à un an est d’environ 30 %. Malheureusement, au moment où le diagnostic d’amylose AL est posé et que le traitement est initié, la maladie est souvent devenue avancée.
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