Mediastinal extramedullary hematopoiesis as first manifestation of hereditary spherocytosis

Pulsoni, Alessandro; Ferrazza, Giancarlo; Malagnino, F; Maurillo, Luca; Pescarmona, Edoardo; Picardi, Alessandra; Rendina, Erino Angelo; Amadori, Sergio

doi:10.1007/bf01703115

Cited by 13 publications

(6 citation statements)

References 10 publications

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“…Several unsplenectomized adult patients have been reported with extramedullary haemopoiesis, occasionally as the presenting feature of the disease. (Mulder et al , 1975; Petit & Estany, 1987; Bastion et al , 1990; Pulsoni et al , 1992; Xiros et al , 2001; Granjo et al , 2002; Sutton et al , 2003).…”

Section: Rare Complicationsmentioning

confidence: 99%

Guidelines for the diagnosis and management of hereditary spherocytosis

et al. 2004

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SummaryHereditary spherocytosis (HS) is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. It is relatively common in Caucasian populations; most affected individuals have mild or only moderate haemolysis. There is usually a family history, and a typical clinical and laboratory picture so that the diagnosis is often easily made without additional laboratory tests. Atypical cases may require measurement of erythrocyte membrane proteins to clarify the nature of the membrane disorder and in the absence of a family history, occasionally molecular genetic analysis will help to determine whether inheritance is recessive or non-dominant. It is particularly important to rule out stomatocytosis where splenectomy is contraindicated because of the thrombotic risk. Mild HS can be managed without folate supplements and does not require splenectomy. Moderately and severely affected individuals are likely to benefit from splenectomy, which should be performed after the age of 6 years and with appropriate counselling about the infection risk. In all cases careful dialogue between doctor, patient and the family is essential. Laparoscopic surgery, when performed by experienced surgeons, can result in a shorter hospital stay and less pain.Keywords: spherocytosis, hereditary, splenectomy, child, erythrocyte membrane.Hereditary spherocytosis (HS) was described in 1871 and the first recorded splenectomy was performed soon after. It is the commonest cause of inherited chronic haemolysis in Northern Europe and North America with a quoted incidence of 1 in 5000 births (Morton et al, 1962). However, studies of osmotic fragility in blood donors suggest the existence of extremely mild or subclinical forms (Godal & Heisto, 1981;Eber et al, 1992), raising the prevalence of HS to 1 in 2000 . HS has also been found in other ethnic groups (in Africa, Algeria, Tunisia, Egypt, Japan, North India and Brazil). There are only rare cases reported in the black population. In the last 15 years significant progress has been made in the understanding of the biochemical and molecular genetic basis of HS. The definitions of the types of evidence and the grading recommendations used in this guideline are listed in Appendix. Search strategyIn addition to personal archives and consultation of standard textbooks (together with relevant cited references therein), the writing group searched Medline and Embase to identify relevant literature including meta-analyses (none found), reviews and original papers in any language, using the following key words and combinations of them: hereditary spherocytosis; red cell membrane; spectrin, ankyrin, band 3, spherocytes; haemolysis; folate; folic acid; splenectomy; splenectomy in haematological

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Section: Rare Complicationsmentioning

confidence: 99%

Guidelines for the diagnosis and management of hereditary spherocytosis

et al. 2004

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“…There are some cases reported of extramedullary hematopoiesis in adults without splenectomy. There are cases of extramedullary hematopoiesis in the mediastinum [3][4][5][6][7] , pelvic area 8 and of massive hemothorax due to intrathoracicextramedullary hematopoiesis 9 .…”

Section: Extramedullary Hematopoiesismentioning

confidence: 99%

Clinical Case of Aplastic Crisis Associated with Extramedullary Hematopoiesis in an Adult With Hereditary Spherocytosis and Parvovirus B19 Infection

Jercan

Gina

Dobrea

et al. 2015

Documenta Haematologica

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Hereditary spherocytosis is an inherited hemolytic anemia due to red cell membrane defects, characterised by chronic hemolysis with different severity degrees, splenomegaly and microspherocytosis on the peripheral blood film. Among the possible complications in these patients are aplastic crisis and extramedullary hematopoiesis. In this article we present the case of a 42 years old man with hereditary spherocytosis diagnosed during childhood (average haemoglobin (Hb) value of 11-12 g/dl), which presented with worsening anemia, fever, chills, bone and muscle pain. The evolution was with accentuation of anemia (Hb 4.2 g/dl), decease of reticulocyte number (Ret 0,8%) and bilirubin (indirect bilirubin 2.7 g/dl). ParvovirusB19 DNA was 100.000.000 copies/ml. A computer tomography (CT)scan was performed and showed extramedullary hematopoiesis areas situated paravertebraly in the inferior thorax and hepatosplenomegaly. The infectious episode was self-limited and improved with substitution treatment.

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“…Another hypothesis is that EMH devolves from primitive embryonic haematopoietic tissue resuming its function under the persistent stimulus of anaemia [8]. Otherwise, such foci could develop from extrusion or herniation of hyperplastic marrow through thinned trabeculae of ribs and vertebral bodies [11,12,14], especially in mediastinal and paravertebral localisation of EMH. Indeed, the histological image of the tumour in the present case strongly resembled the patient's bone marrow probe.…”

Section: Discussionmentioning

confidence: 99%

A patient with pancreatitis, anaemia and an intrathoracic tumour

Kügler

Jager²,

Barth³

2006

European Respiratory Journal

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A 62-yr-old white nonsmoking male, with no history of serious diseases, was referred to the emergency department due to increasing epigastric pain during the previous 2 days. Physical examination revealed clinical signs of peritonitis. Abdominal sonography demonstrated cholecystolithiasis and splenomegaly. Abdominal radiography showed pronounced air content of the intestinal loops. Based on these results, the diagnosis of acute biliary pancreatitis was suspected. The chest radiograph confirmed an intrathoracic mass located at the right side of the spine ( fig. 2) and abdominal computed tomography (CT) revealed massive peripancreatic exudation, cholecystolithiasis and splenomegaly. On examination of the chest CT, the intrathoracic mass was located close to the thoracic spine. It was 40620 mm in size, ovally shaped and even surfaced ( fig. 3).The patient was transferred to the intensive care unit for treatment of acute pancreatitis, and underwent an endoscopic retrograde cholangiography with papillotomy and extraction of numerous pigmentary gallstones. Laboratory signs of inflammation and cholestasis normalised during the following FIGURE 1. Peripheral blood smear taken on admission of the patient.

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Mediastinal extramedullary hematopoiesis as first manifestation of hereditary spherocytosis

Cited by 13 publications

References 10 publications

Guidelines for the diagnosis and management of hereditary spherocytosis

Guidelines for the diagnosis and management of hereditary spherocytosis

Clinical Case of Aplastic Crisis Associated with Extramedullary Hematopoiesis in an Adult With Hereditary Spherocytosis and Parvovirus B19 Infection

A patient with pancreatitis, anaemia and an intrathoracic tumour

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