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Extramedullary hematopoiesis

MedGen UID:
392862
Concept ID:
C2613439
Disease or Syndrome
Synonyms: Extramedullary erythropoiesis; Extramedullary Hematopoiesis
SNOMED CT: Extramedullary hematopoiesis (42952007)
 
HPO: HP:0001978

Definition

The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVExtramedullary hematopoiesis

Conditions with this feature

Primary myelofibrosis
MedGen UID:
7929
Concept ID:
C0001815
Neoplastic Process
Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.\n\nInitially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising.\n\nBecause blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain.\n\nPrimary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.
Osteopetrosis with renal tubular acidosis
MedGen UID:
91042
Concept ID:
C0345407
Disease or Syndrome
Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.
Autosomal recessive osteopetrosis 2
MedGen UID:
342420
Concept ID:
C1850126
Disease or Syndrome
Osteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.
Autosomal recessive osteopetrosis 5
MedGen UID:
409627
Concept ID:
C1968603
Disease or Syndrome
Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).
Leukocyte adhesion deficiency 3
MedGen UID:
411605
Concept ID:
C2748536
Disease or Syndrome
Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920.
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
MedGen UID:
815361
Concept ID:
C3809031
Disease or Syndrome
Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
MedGen UID:
934728
Concept ID:
C4310761
Disease or Syndrome
Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive multisystem disorder characterized by the onset of hydrops in utero. The severity of the hydrops and the disorder in general is highly variable. At birth, affected infants usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anemia. More variable features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Death in infancy may occur. Those who survive tend to have resolution of lactic acidosis and anemia, but may show developmental delay and sensorineural deafness (summary by Riley et al., 2020).

Professional guidelines

PubMed

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Harrison CN, Schaap N, Mesa RA
Ann Hematol 2020 Jun;99(6):1177-1191. Epub 2020 Mar 20 doi: 10.1007/s00277-020-04002-9. PMID: 32198525Free PMC Article

Recent clinical studies

Etiology

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Harrison CN, Schaap N, Mesa RA
Ann Hematol 2020 Jun;99(6):1177-1191. Epub 2020 Mar 20 doi: 10.1007/s00277-020-04002-9. PMID: 32198525Free PMC Article
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article

Diagnosis

Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
Wang F, Qiu T, Wang H, Yang Q
Clin Lymphoma Myeloma Leuk 2022 May;22(5):e350-e362. Epub 2021 Nov 15 doi: 10.1016/j.clml.2021.11.007. PMID: 34903489
Kapatia G, Kaur A, Rastogi P, Sreedharanunni S, Gupta P, Rohilla M, Gupta N, Srinivasan R, Rajwanshi A, Dey P
Diagn Cytopathol 2020 Mar;48(3):191-196. Epub 2019 Nov 27 doi: 10.1002/dc.24353. PMID: 31774255
Spivak JL
Curr Treat Options Oncol 2018 Mar 7;19(2):12. doi: 10.1007/s11864-018-0529-x. PMID: 29516275
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article

Therapy

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Waksal JA, Harrison CN, Mascarenhas JO
Leuk Lymphoma 2022 May;63(5):1020-1033. Epub 2021 Dec 2 doi: 10.1080/10428194.2021.2010068. PMID: 34852713
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Harrison CN, Schaap N, Mesa RA
Ann Hematol 2020 Jun;99(6):1177-1191. Epub 2020 Mar 20 doi: 10.1007/s00277-020-04002-9. PMID: 32198525Free PMC Article
Tremblay D, Marcellino B, Mascarenhas J
Drugs 2017 Sep;77(14):1549-1563. doi: 10.1007/s40265-017-0797-y. PMID: 28791654

Prognosis

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Harrison CN, Schaap N, Mesa RA
Ann Hematol 2020 Jun;99(6):1177-1191. Epub 2020 Mar 20 doi: 10.1007/s00277-020-04002-9. PMID: 32198525Free PMC Article
Spivak JL
Curr Treat Options Oncol 2018 Mar 7;19(2):12. doi: 10.1007/s11864-018-0529-x. PMID: 29516275
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article

Clinical prediction guides

Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Fattahi N, Moeini A, Morani AC, Elsayes KM, Bhosale HR, Badawy M, Menias CO, Rezvani M, Gaballah AH, Shaaban AM
Abdom Radiol (NY) 2022 Jan;47(1):362-377. Epub 2021 Oct 21 doi: 10.1007/s00261-021-03299-y. PMID: 34673996
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Arroyo-Crespo JJ, Armiñán A, Charbonnier D, Deladriere C, Palomino-Schätzlein M, Lamas-Domingo R, Forteza J, Pineda-Lucena A, Vicent MJ
Int J Cancer 2019 Oct 15;145(8):2267-2281. Epub 2019 Apr 2 doi: 10.1002/ijc.32270. PMID: 30860605Free PMC Article
Zhao L, He R, Long H, Guo B, Jia Q, Qin D, Liu SQ, Wang Z, Xiang T, Zhang J, Tan Y, Huang J, Chen J, Wang F, Xiao M, Gao J, Yang X, Zeng H, Wang X, Hu C, Alexander PB, Symonds ALJ, Yu J, Wan Y, Li QJ, Ye L, Zhu B
Nat Med 2018 Oct;24(10):1536-1544. Epub 2018 Oct 8 doi: 10.1038/s41591-018-0205-5. PMID: 30297899Free PMC Article

Recent systematic reviews

Bonometti A
Int J Dermatol 2023 Oct;62(10):1228-1236. Epub 2023 Aug 30 doi: 10.1111/ijd.16809. PMID: 37649236
A Subahi E, Ata F, Choudry H, Iqbal P, A AlHiyari M, T Soliman A, De Sanctis V, A Yassin M
Ann Med 2022 Dec;54(1):764-774. doi: 10.1080/07853890.2022.2048065. PMID: 35261317Free PMC Article
Zhou PP, Clark E, Kapadia MR
Colorectal Dis 2016 Nov;18(11):1033-1040. doi: 10.1111/codi.13427. PMID: 27329993
Orphanidou-Vlachou E, Tziakouri-Shiakalli C, Georgiades CS
Semin Ultrasound CT MR 2014 Jun;35(3):255-62. Epub 2013 Dec 19 doi: 10.1053/j.sult.2013.12.001. PMID: 24929265
Janik M, Straka L, Krajcovic J, Hejna P, Hamzik J, Novomesky F
Forensic Sci Int 2014 Mar;236:22-9. Epub 2013 Dec 25 doi: 10.1016/j.forsciint.2013.12.013. PMID: 24529771

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