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Query: UMLS:C0019045 (hemoglobinopathies)
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Venous thrombosis is a common complication of total parenteral nutrition. We report a case of priapism in a 40-year-old man after administration of total parenteral nutrition for chronic idiopathic intestinal pseudo-obstruction. The patient received glucose, amino acids, and 20% fat emulsion; 12 hours after administration, the patient complained of a persistent, painful penile erection lasting 5 hours. Bilateral corpora cavernosa spongiosum shunts achieved immediate and sustained detumescence, but the patient remained impotent. There was no history of penile or pelvic trauma, hemoglobinopathy, coagulopathy, venous thrombosis, or leukemia. The medical literature describes seven other cases of priapism related to total parenteral nutrition. All of the patients received 20% fat emulsion; two patients developed priapism during the weekly infusion of fat emulsion. Among the multiple factors that can favor thrombosis and therefore priapism during total parenteral nutrition, fat infusion appears to be the most important. Three different mechanisms have been postulated: increase in blood coagulability, effects on red blood cells, and fat embolism. In this patient, platelet function was estimated in vivo by the levels of antiheparin platelet factor 4 and beta-thromboglobulin. These two parameters were both elevated before 20% lipid emulsion and were even higher after the 20% fat-emulsion infusion. Therefore, even if a direct thromboplastic effect is possible, 20% fat emulsion increases platelet activity, which was already high in our patient, and thereby favors priapism.
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PMID:Priapism in a patient treated with total parenteral nutrition. 155 16

A 25-year-old African-American man with sickle cell-beta(+)-thalassemia presented with acute asthma of 2 days' duration. The asthma was well controlled by 48 hr, and parenteral medications were changed to oral bronchodilators and steroids. Sixty hours after presentation, he developed pain similar to that of sickle cell vaso-occlusion, for which he received small amounts of analgesics. He died approximately 84 hours after presentation. Autopsy showed extensive marrow necrosis and massive fat embolism. This is the first reported case of fat embolism syndrome associated with this genotype, the mildest of the clinically significant sickle cell hemoglobinopathies. The relationship between these etiologic factors and indications for transfusions are discussed.
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PMID:Fat embolism syndrome associated with asthma and sickle cell-beta(+)-thalassemia. 803 90

Anemia, mental status changes, and fatal respiratory failure complicated a febrile illness in a previously healthy 14-year-old black female. At autopsy, widespread fat emboli and bone marrow necrosis were found. Hemoglobin electrophoresis on an antemortem, pretransfusion specimen revealed hemoglobin S/beta+ thalassemia. Acute parvovirus B19 (PV B19) infection was suspected. Postmortem serum and a variety of paraffin-embedded tissues were assayed for PV B19 DNA using the polymerase chain reaction (PCR). The expected PCR product was identified in the serum specimen and in paraffin-embedded sections of bone marrow, kidney, spleen, parathyroid, thyroid, adrenal, and gastrointestinal tract: lung, liver, ovary, fallopian tube, uterus, brain, heart, and pancreas were negative. PV B19 infection is highly contagious and may be rapidly fatal in children with hemoglobinopathies by several mechanisms, including fat embolism. Therefore, there exists the risk of multiple deaths within a family. The acute infection may be easily and expeditiously diagnosed using serum or a variety of paraffin-embedded tissues.
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PMID:Fatal fat embolism syndrome in a child with undiagnosed hemoglobin S/beta+ thalassemia: a complication of acute parvovirus B19 infection. 896 32

A case is reported of a previously healthy 52-year-old African American male who presented with acute onset of abdominal pain. Progressive increase in his abdominal symptoms led to an exploratory laparotomy; however, no pathology was discovered. Postoperatively, the patient became hypoxemic which progressed to diffuse infiltrates on chest x-ray, suggestive of adult respiratory distress syndrome. He had a rapidly fatal course. Autopsy showed bone marrow infarction, fat embolism, splenomegaly, and widespread congestion with sickle erythrocytes. Hemoglobin electrophoresis done postmortem showed hemoglobin (Hb) SC disease that was undiagnosed antemortem. To the best of our knowledge, it is unusual for Hb SC to be diagnosed postmortem in adults. This case suggests that sickle cell disorders should be ruled out in patients at risk for hemoglobinopathy in the presence of signs and symptoms compatible with the disease, irrespective of age.
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PMID:Postmortem diagnosis of hemoglobin SC disease complicated by fat embolism. 964 54

The fat embolism syndrome is an important complication of patients with sickle cell hemoglobinopathies because of severe morbidity and mortality. Our recent experience with three cases that survived with intensive supportive care and prompt use of transfusion stimulates this review. A high index of suspicion, prompt use of diagnostic tools, and aggressive clinical management are the keys to a successful outcome.
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PMID:Bone marrow embolism in sickle cell disease: a review. 1584 60

Fat embolism represents a dread complication of sickle cell hemoglobinopathies. We present the details of three cases that, in addition to an acute chest syndrome, had serological and clinical parameters consistent with myocardial damage. A favorable outcome was obtained with judicious use of blood transfusion.
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PMID:Myocardial injury or infarction associated with fat embolism in sickle cell disease: a report of three cases with survival. 1618 76

The erythropoietic system plays a major role in tissue oxygenation because the erythrocytes are the primary carriers of oxygen in the form of oxyhemoglobin. Therefore, clinical entities such as abnormal hemoglobins, polycythemia, anemia, and significant changes in blood volume frequently produce alterations in various respiratory functions. The pulmonary manifestations can vary from mild respiratory illness to life-threatening emergencies with high mortality rates. Among the hemoglobinopathies, sickle cell disease is clinically the most important and commonly associated with serious pulmonary consequences, including acute chest syndrome, pneumonia, infarction due to in situ thrombosis, bone marrow fat embolism of pulmonary vasculature, bone marrow infarction, pulmonary hypertension, and other abnormalities. Hemoglobinopathies with high and low affinity for oxygen and other abnormal hemoglobinopathies occasionally cause clinically significant respiratory complications by interfering with normal tissue oxygenation. Acquired methemoglobinemia can cause alarming cyanosis and medical emergency. Erythrocyte disorders are associated with pulmonary complications, including pulmonary hypertension, alveolar fibrosis, and pulmonary dysfunction. Coagulation disorders, both the inherited and acquired types, have the potential to affect the respiratory system in the form of hemorrhage from the airways, lung parenchyma, or pulmonary hypertension. The following paragraphs describe the common pulmonary complications and manifestations associated with hemoglobinopathies, erythrocyte disorders, and coagulation abnormalities.
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PMID:Lungs in hemoglobinopathies, erythrocyte disorders, and hemorrhagic diatheses. 1626 4

An adolescent with mild hemoglobin SC disease presented with pelvic pain with subsequent respiratory and neurologic deterioration, which led to ultimately death. The autopsy demonstrated acellular fat emboli particularly in the lung and brain. There was marrow necrosis in the lumbar spine with aggregated sickle cells and positive parvovirus immunostaining. The brain lesion both grossly and microscopically presented a distinct pathology of acellular fat emboli that led to the correct diagnosis of this increasingly recognized association of sickle hemoglobinopathies with fat embolism syndrome (FES). A clinical diagnosis of FES is difficult to confirm in many patients with sickle hemoglobinopathy presenting with pain crisis because of concurrent illness. However, this case report highlights the need for a thorough knowledge of the signs and symptoms of the syndrome and a high index of suspicion for the diagnosis to be made premortem.
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PMID:Distinctive Acellular Lipid Emboli in Hemoglobin SC Disease following Bone Marrow Infarction with Parvovirus Infection. 2641 58

Bone marrow necrosis with subsequent embolization of the fat and necrotic tissues into the systemic circulation causing fat embolism syndrome and multiorgan failure is a rare complication of patients with hemoglobinopathies. The exact etiology of this condition is not known. Because it occurs more often in patients with compound heterozygous conditions than in sickle cell disease, some patients are unaware of their predisposition. The initial symptoms are nonspecific, such as back and/or abdominal pain, fever, and fatigue, which may rapidly progress to respiratory failure and severe neurologic compromise. Common laboratory tests reveal anemia without reticulocytosis, thrombocytopenia, leukoerythroblastic picture with immature white cells and nucleated red blood cells, increased lactate dehydrogenase, high ferritin, and, sometimes increased creatinine. The diagnosis can be delayed because of an apparent lack of awareness about bone marrow necrosis with fat embolism syndrome, its rarity, and its similarities with other conditions such as thrombotic thrombocytopenic purpura. Although a bone marrow biopsy is diagnostic, waiting for it delays definitive treatment, which appears to be essential for the recovery of end-organ damage, such as neurologic and pulmonary damage. In our experience, either multiple units of red blood cell transfusion or, preferably, red cell exchange initiated promptly, is lifesaving.
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PMID:Fat Embolism Syndrome Secondary to Bone Marrow Necrosis in Patients with Hemoglobinopathies. 2759 59