Bone marrow necrosis and fat embolism in critically ill patients with acute complications of sickle cell disease: A retrospective cohort study.

Addition of plasma exchange to red cell exchange improves outcomes of fat embolism syndrome in sickle cell disease.

Sickle cell disease encompasses a wide range of genotypic presentation with particular clinical features. The entity affects millions of people, particularly those whose ancestors came from sub-Saharan Africa and other countries in the Western Hemisphere, Saudi Arabia, and India. Currently, the high frequency of S and C genes reflects natural selection through the protection of heterozygotes against severe malaria, the high frequency of consanguineous marriages, improvement of some public health policies and the nutritional standards in the poorer countries where newborns are now living long enough to present for diagnosis and management. Although there is a high burden of the disease, in many countries, the new-born sickle cell screening test is being performed and is rendering an early diagnosis; however, it is still difficult for sickle cell patients to find proper treatment and adequate follow-up. Moreover, in many countries, patients are neither aware of their diagnosis nor the care they should receive to prevent complications; also, they do not receive adequate genetic counseling. Hemoglobin SC (HbSC) disease is the most frequent double sickle cell heterozygosis found in Brazil. The clinical course tends to be more benign with fewer hospitalizations compared with double homozygotic SS patients. However, HbSC patients may present severe complications with a fatal outcome. We report the case of a 36-year-old man who presented to the emergency care facility with symptoms consistent with the diagnosis of sickling crisis. The outcome was unfavorable and death occurred just hours after admission. The autopsy revealed a generalized vaso-occlusive crisis by sickled red cells, bone marrow necrosis, and fat embolism syndrome.

Fat embolism syndrome after bone marrow necrosis is an extremely rare complication in sickle cell disease associated with significant morbidity and mortality. A high index of suspicion is required for diagnosis. This case report will assist pediatric clinicians and hematologists to recognize this severe complication in patients with sickle cell disease and to promptly initiate treatment. Red flags include severe bone pain, respiratory distress, neurological impairment, decreasing platelet count, peripheral leukocyte left shift, elevated nucleated red blood cells, and significant elevation in plasma ferritin and lactate dehydrogenase. We report a pediatric patient who was diagnosed early, received urgent red cell exchange transfusion and plasma exchange, and ultimately survived this devastating complication.

We report here a case of bone marrow necrosis and fat embolism syndrome in a 23-year-old sickle-cell disease (HbSS) patient. A brutal and severe bicytopenia conducted to suspect bone marrow necrosis, confirmed by bone marrow aspiration and analysis. This was the first life-threatening medical event for this patient. In the present case, a complex alloimmunization against blood group antigens complicated the treatment because of the risks associated with the transfusion strategy. These rare complications of sickle-cell disease may be fatal, but an efficient symptomatic treatment generally allows for recovery. Medical biologists should be aware of the danger of bone marrow necrosis in sickle-cell disease, so that they can help clinicians and accurately diagnose this serious complication.

Prevalence of haemoglobin sickle-β+ thalassaemia (Hb S/β+thal) is variable with geography ranging from 0.2% to 10% among sickle cell patients. Clinical presentation of Hb S/β+thal patients depends on HbA level,...

28-Year-Old Man With Joint Pain

Sickle Cell Disease encompasses a group of disorders related with the hemoglobin S and other hemoglobin genotypes. The clinical manifestation and the severity of symptoms are dependent on the specific genotype. In this setting, homozygous genotype (HbSS) presents an early onset of symptoms and a low expectancy of lifetime. However, the SC genotype (HbSC), which apparently shows a less severe clinical course, may exhibit the same complications of HbSS. These complications are usually manifested late in the course of life, when compared with the HbSS patients. It is noteworthy that HbSC may present a normal hematocrit, and therefore stays unknown until the first complication, that may be disastrous. The authors report a case of an African-Descendant woman, aging 65 years, with no previous diagnosis of anemia who sought medical attention because of a thoracic back pain followed by fever and altered mental status. The clinical picture deteriorated very fast with multiple organ failure and death. The autopsy findings concluded by generalized vaso-occlusive crisis, bone marrow necrosis and bone marrow and fat embolism, mainly to the lungs and kidney. The authors call attention for the knowledge of this severe life threatening complication, mainly in a country with a high Afro-Descendant population.

As outcomes of patients with sickle cell anemia improve and survival into adulthood with good quality of life and expectation of long-term survival becomes more common, challenges have developed, including issues related to reproduction. Pregnancy is frequently complicated in patients with sickle cell anemia with mortality up to 4.0%. Here we report maternal perinatal mortality in two women with sickle cell anemia who died post-partum due to acute chest syndrome (ACS), caused by bone marrow fat embolism and review the literature pertinent to this subject. Patient A was a 28-year-old woman with sickle cell anemia with multiple complications. At 30 weeks’ gestation she developed hemolysis associated with poor placental function necessitating delivery by C-section. The fetus was delivered successfully but she died due to multi organ failure after delivery. Autopsy showed pulmonary and amniotic fluid embolization. Patient B was a 37-year-old woman with uncomplicated sickle cell anemia who presented with pre term labor and crisis, then ACS and fetal distress. The infant was delivered successfully but the patient died after cardiovascular collapse. Autopsy results showed fat and bone marrow embolization as the cause of death. Pregnancy continues to be high risk for patients with sickle cell anemia including those with mild disease. Maternal perinatal mortality could be unpredictable due to serious complications of sickle cell disease. More studies to assess maternal perinatal mortality are needed.

Bone marrow necrosis and fat embolism syndrome in sickle cell disease: Increased susceptibility of patients with non-SS genotypes and a possible association with human parvovirus B19 infection

Fat embolism syndrome (FES) is a rare life-threatening condition that is particularly seen in milder forms of sickle cell disease (SCD). Widespread systemic fat emboli are generated in the context of extensive bone marrow necrosis. Multi-organ failure with a high morbidity and mortality may quickly develop. Infection with Parvovirus B19 is a common precipitant. Here, the authors report the case of a 35-year-old Afro-Caribbean man with HbSC disease who presented with FES having tested positive for SARS-COV-2. He rapidly became critically ill and required admission to the intensive care unit for organ support. He was treated with red cell exchange and plasma exchange and made a good recovery to leave hospital at week 7.

An 84-year-old Japanese woman with myelodysplastic syndrome was admitted with pyrexia and dyspnea, but died suddenly during diagnostic evaluation. The autopsy revealed miliary tuberculosis in addition to myelodysplastic syndrome in the bone marrow. The immediate cause of the patient’s sudden death was pulmonary fat embolism derived from bone marrow necrosis. This case shows that the infiltration of the myelodysplastic bone marrow by tuberculosis and consequent bone marrow necrosis and fat embolism can be the cause of sudden death. In this article, we report the autopsy results of this unusual cause of sudden death, and discuss tuberculosis-related sudden death with a review of the literature.

Cerebral fat embolism (CFE) is a rare and often under-recognized complication of sickle cell disease (SCD) associated with high morbidity and mortality. The pathogenesis of fat embolism syndrome (FES) in SCD is not yet fully understood. It is thought to be caused by mechanical blockage or biochemical damage from fat microemboli in the bloodstream triggered by bone marrow necrosis, leading to multiorgan failure. The clinical diagnosis of CFE is challenging due to its nonspecific and variable clinical presentation and lack of definitive laboratory tests. Therefore, imaging, particularly MRI, is crucial in diagnosing and managing CFE. This article highlights the complex pathophysiology and diverse clinical presentations of CFE and FES in SCD and emphasizes the vital role of MRI in diagnosing CFE. MRI not only helps diagnose CFE but also provides critical insights into the pathophysiology of the disease by showing different and evolving imaging patterns of CFE across time. These patterns, categorized into acute, subacute, and chronic phases, help one understand the disease course, diagnosis, and management. The available literature on CFE and the differential diagnosis of MRI patterns are also reviewed in this article.Learning Objective: To identify different MR imaging patterns of CFE in patients with SCD and highlight their evolution and differential diagnosis.

Bone marrow necrosis and fat embolism syndrome in sickle cell disease: A rapidly deteriorating complication.

Combined Red Cell and Plasma Exchange Is Associated with Reduced Mortality of Fat Embolism Syndrome in Sickle Cell Disease

Non-traumatic fat embolism syndrome (FES) affecting brain, lung and hematopoietic system is a rare, but a serious complication of sickle cell disease (SCD), resulting from bone marrow necrosis. SCD-related FES is rare, with the spectrum of clinical, laboratory, radiological manifestations and patient outcome is not fully understood. After medical research & ethics committee approval, retrospectively, SCD-FES patients at our centre, were reviewed between January 2006 to December 2023. 27 patients (17 males, 10 females) with a median age of 24 years and length of hospital stay of 24 (16–38) days were enrolled. They had fever, chest/back pain, cough and crepitation in 100%, 96%, 56% and 100% respectively, with neurological manifestations in 96%. Abnormal chest X-rays and CT scans were observed in 96%, and 100% respectively. Patients had significant anemia, reticulocytopenia, and thrombocytopenia, with raised WBC (p < 0.05). There was a significant rise in LDH, ALP, Ferritin and C-reactive protein levels. All patients received antibiotics, and exchange transfusions, whereas 24%, 76% required non-invasive ventilation (NIV) and mechanical ventilation respectively, with 18.5% mortality. FES is a rapidly progressive respiratory and neurological syndrome, characterized by hypoxia, and cytopenia, with raised inflammatory markers, raised LDH and ALP, with distinctive multiple cerebral microbleeds.