Osteopetrosis: A Rare Cause of Anemia

Abstract

Normocytic anaemia is caused either by hypoproliferation of haemopoietic tissue or increased destruction of red cells. Osteopetrosis is a rare cause of anaemia. Infantile osteopetrosis (also called malignant osteopetrosis) is diagnosed early in life. But it is the adult osteopetrosis (also called benign osteopetrosis) which is diagnosed in late adolescence or adulthood that present as anaemia which is difficult to diagnose and treat. Approximately one half of patients are asymptomatic, and the diagnosis is made incidentally, often in late adolescence because radiologic abnormalities start appearing only in childhood. In other patients, the diagnosis is based on family history. Still other patients might present with osteomyelitis or fractures. We are presenting here an unusual case of osteopetrosis which was referred to us for the evaluation of anaemia.

Osteoimmunology

“…Indeed, several reports suggested that the aberrant bone microenvironment provokes defects in immune cell differentiation and function (Begg et al 1993). Osteopetrotic patients develop anemia and serious infection as a result of abnormal hematopoiesis (Reeves et al 1979;Gerritsen et al 1994;Sreehari et al 2011). The frequency and absolute number of Lin neg Sca-1 + c-kit + (LSK) cells are decreased in oc/oc mice, which have defective bone resorption because of a mutation in the Tcirg1 gene (Li et al 1999).…”

X-ray imaging characterization of femoral bones in aging mice with osteopetrotic disorder

“…A decrease in the number of red blood cells may result in an anemia disorder. Previous literature showed a positive correlation between osteopetrosis and anemia disorder (Fischer et al, 1991;Gamsu et al, 1961;Lees and Sautter, 1979;Saluja et al, 2009;Sreehari et al, 2011). Our quantitative study of abnormal aging mice suggests that the anemia disorder may be directly linked to the internal expansion of cortical bones at diaphysis.…”

Osteopetrosis. Reporte de un caso

“…La osteopetrosis es una enfermedad de etiología desconocida, 7 caracterizada por una alteración funcional en los osteoclastos, incapacitándolos para la reabsorción ósea normal. 8,9 El diagnóstico es fundamentalmente clínico y radiológico; las manifestaciones clínicas que presentan los pacientes con osteopetrosis son muy variables y van en relación al grado de disfunción osteoclástica.…”