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Extensive Bone Marrow Necrosis: Initial Presentation in Sickle Cell Anemia-A Case Report and Review of the Literature.

ABSTRACT: Bone marrow necrosis (BMN) is a rare clinical entity that was first described in an autopsy of a sickle cell disease (SCD) patient and is defined as ill-defined necrotic cells in an amorphous eosinophilic background with preservation of cortical bone. The pathophysiology of BMN is not well known; however, occlusion of the bone marrow microcirculation with subsequent hypoxia and cell injury has been thought to be common underlying features. Malignancy has been identified to be the primary cause in 90% of the cases whereas SCD was found in only 2%. In this report we present an unusual case of SCD with late onset of the disease whose initial presentation was extensive BMN. The patient was not known previously to have SCD, when suddenly she presented with severe cytopenias and marked elevation in serum lactate dehydrogenase (LDH). Bone marrow examination was done to exclude bone marrow infiltration, and BMN with dilated marrow sinuses full of irreversibly sickled cells were the unexpected findings. Patients with a mild SCD phenotype are at high risk of BMN. Thus, a high index of suspicion must be borne in mind, particularly in an area of high SCD prevalence, to recognize and prevent this catastrophic complication.

SUBMITTER: Alsafwani SA

PROVIDER: S-EPMC5485266 | biostudies-other | 2017

REPOSITORIES: biostudies-other

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Project description:BackgroundPatients with bone marrow failure and undiagnosed underlying Fanconi anemia may experience major toxicity if given standard-dose conditioning regimens for hematopoietic stem cell transplant. Due to clinical variability and/or potential emergence of genetic reversion with hematopoietic somatic mosaicism, a straightforward Fanconi anemia diagnosis can be difficult to make, and diagnostic strategies combining different assays in addition to classical breakage tests in blood may be needed.Design and methodsWe evaluated Fanconi anemia diagnosis on blood lymphocytes and skin fibroblasts from a cohort of 87 bone marrow failure patients (55 children and 32 adults) with no obvious full clinical picture of Fanconi anemia, by performing a combination of chromosomal breakage tests, FANCD2-monoubiquitination assays, a new flow cytometry-based mitomycin C sensitivity test in fibroblasts, and, when Fanconi anemia was diagnosed, complementation group and mutation analyses. The mitomycin C sensitivity test in fibroblasts was validated on control Fanconi anemia and non-Fanconi anemia samples, including other chromosomal instability disorders.ResultsWhen this diagnosis strategy was applied to the cohort of bone marrow failure patients, 7 Fanconi anemia patients were found (3 children and 4 adults). Classical chromosomal breakage tests in blood detected 4, but analyses on fibroblasts were necessary to diagnose 3 more patients with hematopoietic somatic mosaicism. Importantly, Fanconi anemia was excluded in all the other patients who were fully evaluated.ConclusionsIn this large cohort of patients with bone marrow failure our results confirmed that when any clinical/biological suspicion of Fanconi anemia remains after chromosome breakage tests in blood, based on physical examination, history or inconclusive results, then further evaluation including fibroblast analysis should be made. For that purpose, the flow-based mitomycin C sensitivity test here described proved to be a reliable alternative method to evaluate Fanconi anemia phenotype in fibroblasts. This global strategy allowed early and accurate confirmation or rejection of Fanconi anemia diagnosis with immediate clinical impact for those who underwent hematopoietic stem cell transplant.

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Extensive Bone Marrow Necrosis: Initial Presentation in Sickle Cell Anemia-A Case Report and Review of the Literature.

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