TY - JOUR
T1 - Bone marrow failure
T2 - causes and complications
AU - Kulasekararaj, Austin G.
AU - Mufti, Ghulam J.
AU - Marsh, Judith C.W.
N1 - Publisher Copyright:
© 2021
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/5
Y1 - 2021/5
N2 - Aplastic anaemia (AA), a rare but serious form of bone marrow failure (BMF), is characterized by pancytopenia with hypocellular bone marrow. The pathophysiology of acquired AA is predominantly immunologically mediated, with damage to haemopoietic stem cells by autoreactive T lymphocytes. The aberrant immune response can be triggered by environmental triggers, such as drugs, toxins, chemicals and viral infections, especially after seronegative hepatitis. A careful medical and family history, physical examination and investigations are required to rule out rarer inherited causes of BMFs, as well as other acquired diseases, such as hypoplastic myelodysplastic syndrome, with a similar phenotype. The clinical spectrum of acquired AA varies: some patients with mild cytopenia do not require therapy; others have life-threatening complications resulting from severe pancytopenia. The autoimmune basis provides the rationale for treatment, with either combined immunosuppressive therapy using antithymocyte globulin and ciclosporin, or allogeneic haemopoietic stem cell transplantation (HSCT). Long-term survival of 70–80% can be expected from these standard therapeutic modalities. Recurrence of pancytopenia, secondary to relapse, clonal evolution to myelodysplastic syndrome and paroxysmal nocturnal haemoglobinuria are late sequelae after immunosuppressive therapy. By contrast, HSCT provides the chance of long-term cure.
AB - Aplastic anaemia (AA), a rare but serious form of bone marrow failure (BMF), is characterized by pancytopenia with hypocellular bone marrow. The pathophysiology of acquired AA is predominantly immunologically mediated, with damage to haemopoietic stem cells by autoreactive T lymphocytes. The aberrant immune response can be triggered by environmental triggers, such as drugs, toxins, chemicals and viral infections, especially after seronegative hepatitis. A careful medical and family history, physical examination and investigations are required to rule out rarer inherited causes of BMFs, as well as other acquired diseases, such as hypoplastic myelodysplastic syndrome, with a similar phenotype. The clinical spectrum of acquired AA varies: some patients with mild cytopenia do not require therapy; others have life-threatening complications resulting from severe pancytopenia. The autoimmune basis provides the rationale for treatment, with either combined immunosuppressive therapy using antithymocyte globulin and ciclosporin, or allogeneic haemopoietic stem cell transplantation (HSCT). Long-term survival of 70–80% can be expected from these standard therapeutic modalities. Recurrence of pancytopenia, secondary to relapse, clonal evolution to myelodysplastic syndrome and paroxysmal nocturnal haemoglobinuria are late sequelae after immunosuppressive therapy. By contrast, HSCT provides the chance of long-term cure.
KW - Aplastic anaemia
KW - ATG and transplantation
KW - bone marrow failure syndromes
KW - MRCP
KW - pancytopenia
UR - http://www.scopus.com/inward/record.url?scp=85103934041&partnerID=8YFLogxK
U2 - 10.1016/j.mpmed.2021.02.001
DO - 10.1016/j.mpmed.2021.02.001
M3 - Review article
AN - SCOPUS:85103934041
SN - 1357-3039
VL - 49
SP - 259
EP - 262
JO - Medicine (United Kingdom)
JF - Medicine (United Kingdom)
IS - 5
ER -
