Bulky extramedullary hematopoiesis is not a rare complication of congenital dyserythropoietic anemia

Heimpel, Hermann; Hofbauer, P.; Rigamonti-Wermlinger, V.; Kreuser, Ernst-Dietrich; Schwarz, Klaus; Solenthaler, Max; Pauls, Sandra

doi:10.1007/s00277-009-0735-5

Cited by 13 publications

(9 citation statements)

References 15 publications

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“…Abdominal ultrasound reveals universal splenomegaly (Heimpel et al , ) and gallstones in 50–60% of adults with CDA‐I (Shalev et al , ). Imaging with plain radiographs or magnetic resonance imaging (MRI) to investigate and characterise paraspinal masses secondary to extramedullary haematopoiesis may be necessary (Heimpel et al , ).…”

Section: Clinical Presentationmentioning

confidence: 99%

“…Extramedullary haematopoiesis (EMH), ranging in severity from minor to bulky, is a recognised complication of CDA‐I, although the exact prevalence is unclear (Heimpel et al , , ). Management is in line with the EMH in thalassaemia with therapeutic options including surgical debulking, low dose irradiation and commencing regular transfusions to suppress EMH.…”

Section: Managementmentioning

confidence: 99%

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The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

Roy

Babbs

2019

Br J Haematol

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Summary Congenital dyserythropoietic anaemia type I (CDA‐I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. CDA‐I is caused by bi‐allelic mutations in either CDAN1 or C15orf41 and, to date, 56 causative mutations have been documented. The diagnostic pathway is reviewed and the utility of genetic testing in reducing the time taken to reach an accurate molecular diagnosis and avoiding bone marrow aspiration, where possible, is described. The management of CDA‐I patients is discussed, highlighting both general and specific measures which impact on disease progression. The use of interferon alpha and careful management of iron overload are reviewed and suggest the most favourable outcomes are achieved when CDA‐I patients are managed with a holistic and multidisciplinary approach. Finally, the current understanding of the molecular and cellular pathogenesis of CDA‐I is presented, highlighting critical questions likely to lead to improved therapy for this disease.

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Section: Clinical Presentationmentioning

confidence: 99%

Section: Managementmentioning

confidence: 99%

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

Roy

Babbs

2019

Br J Haematol

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“…Bulky paraspinal extramedullary hematopoiesis usually located in the thorax was found in 15% of TI patients . In CDA, this complication was described in 12 patients of whom two had CDA type I . We found one adult CDA I patient who was incidentally found to have a thoracic para spinal mass.…”

Section: Discussionmentioning

confidence: 76%

Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I

Shalev

Al-Athamen

Levi

et al. 2016

European J of Haematology

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Congenital dyserythropoietic anemia type I (CDAI) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. To better define the natural history of the disease among adult patients, we studied 32 Bedouin patients (median age 34 yr; range 21-60) all carrying the same CDAN1 founder mutation. Follow-up studies included complete blood count, blood chemistry, abdominal ultrasound, echocardiography, and T2*MRI. Main complications were due to anemia and ineffective erythropoiesis [osteoporosis (8/9, 89%), cholelithiasis (21/30, 70%), pulmonary arterial hypertension (PAH) (6/25, 24%)] and iron overload [hypothyroidism (9/24, 38%), and diabetes mellitus (6/32, 19%)]. T2* MRI revealed increased liver iron but no cardiac iron (13/13). Anemia improved in the majority of patients who underwent splenectomy (5/6). Three patients died (9%) at the age of 46-56 due to PAH (1) and sepsis (2). All previously underwent splenectomy. Analyzing both our patients and the 21 patients previously described by Heimpel et al. (Blood 107:334, 2006), we conclude that adults with CDA I suffer significant morbidity and mortality. Careful monitoring of iron overload and prompt iron chelation therapy is mandatory. Due to possible complications and inconsistent response to splenectomy α-interferon, transfusion therapy or stem cell transplantation should be considered as alternatives to this procedure in severely affected patients.

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“…Whole-body magnetic resonance imaging revealed intrathoracic paraspinal masses (Fig. 3b), likely representing extramedullary hematopoiesis [6]. …”

Section: Patients Materials and Methodsmentioning

confidence: 99%

Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 G208R mutation

et al. 2010

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The transcriptional regulator GATA1 is crucially involved in megakaryocytopoiesis and erythropoiesis. Mutations of the gene which is located on the X chromosome have been associated with platelet and red blood cell abnormalities. We identified a family with a GATA1G208R mutation in whom a low male birth rate and frequent miscarriages among heterozygous females suggested increased fetal death in male hemizygotes. Female mutation carriers had normal or near normal hemoglobin levels and platelet counts ranging from normal to severely reduced, probably reflecting skewed X chromosome inactivation. Platelets were dimorphous, and thrombocytopenia was associated with erythroblastosis. The only living male mutation carrier had severe macrothrombocytopenia with life-threatening bleeding episodes, moderate to severe anemia, eosinopenia, skeletal abnormalities, and abundant extra-medullary hematopoiesis. Long-term sequelae in the 50-year-old patient included unilateral nephrectomy following misinterpretation of paraspinal hematopoiesis as renal cancer, spinal stenosis which was possibly favored by progressive bone marrow expansion, and severe secondary gout.

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Bulky extramedullary hematopoiesis is not a rare complication of congenital dyserythropoietic anemia

Cited by 13 publications

References 15 publications

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I

Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 G208R mutation

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