Paravertebral extramedullary hematopoiesis associated with improvement of anemia in congenital dyserythropoietic anemia type II

Abstract

Thoracic masses resulting from extramedullary hematopoiesis developed in two sisters of Moroccan origin with congenital dyserythropoietic anemia type II (HEMPAS). In one patient, the diagnosis of extramedullary hematopoiesis was confirmed histologically. The appearance of extramedullary foci of hematopoiesis mimicking mediastinal tumors has not been previously described in HEMPAS. These masses result from persistent erythropoietic stimulation associated with chronic hemolytic anemia. In both patients, detection of the asymptomatic masses was preceded by normalization of hemoglobin levels. Thus unexpected correction of a chronic refractory anemia associated with the appearance of mediastinal masses might be the heralding manifestation of an effective extramedullary hemopoiesis.

Advances in the understanding of the congenital dyserythropoietic anaemias

“…Gallstones develop frequently and co‐inheritance of Gilbert syndrome increases the extent of hyperbilirubinaemia and the risk of gallstone formation (Perrotta et al , 2000). Rarely, patients develop paravertebral tumours consisting of extramedullary haemopoietic tissue (Lugassy et al , 1986; Steiner et al , 1995; Heimpel et al , 2003) or an aplastic crisis associated with parvovirus infection (West et al , 1986; Heimpel et al , 2003). Hairy cell leukaemia developed in one patient (Marisavljevic et al , 1994) and malignant lymphoma in two (Heimpel et al , 2003).…”

Dyserythropoiesis and Congenital Dyserythropoietic Anaemias

“…Mental retardation was present in a few cases . Rarely, patients develop posterior mediastinal tumours consisting of extramedullary haemopoietic tissue (Lugassy et al, 1986;Steiner et al, 1995). An aplastic crisis associated with parvovirus infection has been described in one case (West et al, 1986).…”

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

“…In our own cases, hemoglobin concentration at the time the bulk first was detected varied between 7.6 and 11.6 g/dl. In a report on three siblings of Moroccan origin with CDA type II, thoracic masses were detected in two of them, including one female who even had a normal hemoglobin [13]. A lifelong erythroid hyperplasia is the most plausible explanation.…”