Paraspinal Extramedullary Haematopoiesis in A Patient with Sickle Cell Disease: A Rare Clinical Presentation

镰状细胞病患者椎旁髓外造血:一种罕见的临床表现

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Abstract

BACKGROUND: Extramedullary haematopoiesis refers to the formation of blood cells outside the bone marrow, typically as a compensatory response to chronic anaemia or bone marrow failure. It is a well-documented phenomenon in hemoglobinopathies with ineffective erythropoiesis, such as thalassemia major and intermedia, where it occurs frequently due to persistent marrow stress. However, in sickle cell disease, extramedullary haematopoiesis is considered a rare phenomenon. This rarity is attributed to the fact that, in sickle cell disease, anaemia is primarily due to haemolysis rather than ineffective erythropoiesis. When extramedullary haematopoiesis does occur in sickle cell disease, it often involves unusual sites such as the paraspinal regions, potentially causing compressive symptoms. Recognition of this rare complication is crucial for timely diagnosis and management. CASE PRESENTATION: We report a case of a 43-year-old male with homozygous sickle cell disease who presented with progressive mid back pain and bilateral lower limb weakness. Magnetic resonance imaging of the thoracic spine revealed a well-circumscribed paraspinal mass causing spinal cord compression. DISCUSSION: Paraspinal extramedullary haematopoiesis should be considered in the differential diagnosis of spinal masses in patients with chronic haemolytic anaemias. While often asymptomatic, mass effect can lead to neurological deficits requiring urgent intervention. Diagnosis is based on imaging and requires histological confirmation. Treatment options include blood transfusion to suppress erythropoiesis, radiotherapy, and surgical decompression in severe cases. CONCLUSION: This case underscores the importance of recognizing paraspinal extramedullary haematopoiesis as a potential cause of neurological symptoms in sickle cell disease patients. Timely diagnosis and multidisciplinary management are essential to prevent irreversible complications. LEARNING POINTS: Consider extramedullary haematopoiesis in sickle cell disease patients with paraspinal masses to avoid unnecessary biopsy.Use non-invasive imaging for diagnosis and follow-up in stable cases.Address modifiable crisis triggers such as diet and exertion.Employ multidisciplinary care to optimize outcomes and prevent complications.

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