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Hemophagocytosis

MedGen UID:
86219
Concept ID:
C0302486
Finding
Synonyms: Erythrocytophagy; Erythrophagia; Erythrophagocytosis
SNOMED CT: Erythrophagocytosis (61070002); Erythrophagia (61070002)
 
HPO: HP:0012156

Definition

Erythrophagocytosis; phagocytosis of erythrocytes. [from NCI]

Conditions with this feature

Lysinuric protein intolerance
MedGen UID:
75704
Concept ID:
C0268647
Disease or Syndrome
Lysinuric protein intolerance (LPI) typically presents after an infant is weaned; variable findings include recurrent vomiting and episodes of diarrhea, episodes of stupor and coma after a protein-rich meal, poor feeding, aversion to protein-rich food, failure to thrive, hepatosplenomegaly, and muscular hypotonia. Over time, findings include: poor growth; osteoporosis; involvement of the lungs (progressive interstitial changes; pulmonary alveolar proteinosis) and of kidneys (progressive glomerular and proximal tubular disease); hematologic abnormalities (normochromic or hypochromic anemia, leukopenia, thrombocytopenia, erythroblastophagocytosis at the bone marrow aspirate) and a clinical presentation resembling the hemophagocytic lymphohistiocytosis/macrophagic activation syndrome. Acute pancreatitis can also be seen.
Familial hemophagocytic lymphohistiocytosis
MedGen UID:
78797
Concept ID:
C0272199
Pathologic Function
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
Hemophagocytic lymphohistiocytosis, familial, 3
MedGen UID:
332383
Concept ID:
C1837174
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
Lymphoproliferative syndrome 2, X-linked
MedGen UID:
336848
Concept ID:
C1845076
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) is caused by mutations in SH2D1A and XIAP (BIRC4). XLP may also occur in rare instances with no identified underlying genetic cause. The three most commonly recognized phenotypes of SH2D1A-related XLP are hemophagocytic lymphohistiocytosis (HLH) associated with Epstein-Barr virus (EBV) infection (58% of individuals), dysgammaglobulinemia (31%), and lymphoproliferative disorders (malignant lymphoma) (30%). Manifestations of SH2D1A-related XLP, including HLH, can also occur in the absence of EBV. XIAP-related XLP also presents with HLH (often associated with EBV) or dysgammaglobulinemia, but no cases of lymphoma have been described to date. HLH resulting from EBV infection, sometimes referred to as severe infectious mononucleosis, is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Fulminant hepatitis, hepatic necrosis, and profound bone marrow failure are typical, resulting in mortality that is higher than 90%, though prompt recognition of the disorder and aggressive treatment interventions likely improve survival. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The prognosis is improved if affected males are managed with regular intravenous immunoglobulin (IVIG) therapy. The malignant lymphomas are typically high-grade B cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
Hemophagocytic lymphohistiocytosis, familial, 2
MedGen UID:
400366
Concept ID:
C1863727
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
Hemophagocytic lymphohistiocytosis, familial, 4
MedGen UID:
350245
Concept ID:
C1863728
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
Hemophagocytic lymphohistiocytosis, familial, 5
MedGen UID:
416514
Concept ID:
C2751293
Disease or Syndrome
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals.
Lymphoproliferative syndrome 2
MedGen UID:
767454
Concept ID:
C3554540
Disease or Syndrome
Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).
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. Initially, 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. Because 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. Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.
Lymphoproliferative syndrome 1
MedGen UID:
414442
Concept ID:
C2751686
Disease or Syndrome
Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240).

Recent clinical studies

Etiology

Weaver LK, Behrens EM
Curr Opin Rheumatol 2014 Sep;26(5):562-9. doi: 10.1097/BOR.0000000000000093. PMID: 25022357Free PMC Article
Inai K, Noriki S, Iwasaki H, Naiki H
Virchows Arch 2014 Jul;465(1):109-18. Epub 2014 May 23 doi: 10.1007/s00428-014-1592-8. [Epub ahead of print] PMID: 24852692Free PMC Article
Xie W, Hu K, Xu F, Zhou D, He J, Shi J, Luo Y, Zhu J, Zhang J, Lin M, Ye X, Huang H, Cai Z
Ann Hematol 2013 Apr;92(4):481-6. Epub 2012 Dec 13 doi: 10.1007/s00277-012-1644-6. [Epub ahead of print] PMID: 23238896Free PMC Article
Mishra B, Varma N, Appannanavar S, Malhotra P, Sharma M, Bhatnagar A, Ratho RK, Varma S
Indian J Pathol Microbiol 2012 Apr-Jun;55(2):215-7. doi: 10.4103/0377-4929.97876. PMID: 22771647
Ur Rehman J, Wali G, Sayes NM, Maulawi A, Aslam M, Khalid I
Ann Saudi Med 2012 Jan-Feb;32(1):86-9. PMID: 22156644

Diagnosis

Shah MV, Go RS
Blood 2014 Nov 20;124(22):3329. PMID: 25562103
Inai K, Noriki S, Iwasaki H, Naiki H
Virchows Arch 2014 Jul;465(1):109-18. Epub 2014 May 23 doi: 10.1007/s00428-014-1592-8. [Epub ahead of print] PMID: 24852692Free PMC Article
Zeng XZ, Wang YN, Wang JS, Wu L, Zhang J, Wei Q, Liu J, Wang Z
Int J Infect Dis 2014 Jun;23:28-30. Epub 2014 Mar 18 doi: 10.1016/j.ijid.2014.02.004. [Epub ahead of print] PMID: 24657272
Ruiz Mercado M, Calderón-Cabrera C, Morales Camacho R, Borrero Martín JJ, Domínguez Muñoz Mde L, Bernal Ruiz R, Pérez-Simón JA
Eur J Haematol 2014 Nov;93(5):453-4. Epub 2014 Mar 19 doi: 10.1111/ejh.12297. [Epub ahead of print] PMID: 24612295
Goel S, Polski JM, Imran H
Ann Clin Lab Sci 2012 Winter;42(1):21-5. PMID: 22371906

Therapy

Jawed SI, Busam K, Wang X, Horwitz S, Querfeld C
JAMA Dermatol 2014 Sep;150(9):1021-3. doi: 10.1001/jamadermatol.2013.10615. PMID: 25029560
Weaver LK, Behrens EM
Curr Opin Rheumatol 2014 Sep;26(5):562-9. doi: 10.1097/BOR.0000000000000093. PMID: 25022357Free PMC Article
Naseem S, Sehgal T, Varma N
Int J Hematol 2014 Sep;100(3):216-7. Epub 2014 Jul 1 doi: 10.1007/s12185-014-1623-x. [Epub ahead of print] PMID: 24981712
Zeng XZ, Wang YN, Wang JS, Wu L, Zhang J, Wei Q, Liu J, Wang Z
Int J Infect Dis 2014 Jun;23:28-30. Epub 2014 Mar 18 doi: 10.1016/j.ijid.2014.02.004. [Epub ahead of print] PMID: 24657272
Goel S, Polski JM, Imran H
Ann Clin Lab Sci 2012 Winter;42(1):21-5. PMID: 22371906

Prognosis

Xu Z, Burns BF
Blood 2014 Jul 24;124(4):478. PMID: 25202776
Ruiz Mercado M, Calderón-Cabrera C, Morales Camacho R, Borrero Martín JJ, Domínguez Muñoz Mde L, Bernal Ruiz R, Pérez-Simón JA
Eur J Haematol 2014 Nov;93(5):453-4. Epub 2014 Mar 19 doi: 10.1111/ejh.12297. [Epub ahead of print] PMID: 24612295
Bıçakçı Z, Tavil B, Tezer H, Olcay L
Turk J Pediatr 2013 May-Jun;55(3):344-8. PMID: 24217086
Xie W, Hu K, Xu F, Zhou D, He J, Shi J, Luo Y, Zhu J, Zhang J, Lin M, Ye X, Huang H, Cai Z
Ann Hematol 2013 Apr;92(4):481-6. Epub 2012 Dec 13 doi: 10.1007/s00277-012-1644-6. [Epub ahead of print] PMID: 23238896Free PMC Article
Ur Rehman J, Wali G, Sayes NM, Maulawi A, Aslam M, Khalid I
Ann Saudi Med 2012 Jan-Feb;32(1):86-9. PMID: 22156644

Clinical prediction guides

Ho C, Yao X, Tian L, Li FY, Podoltsev N, Xu ML
Am J Clin Pathol 2014 Jan;141(1):62-71. doi: 10.1309/AJCPMD5TJEFOOVBW. PMID: 24343738
Al-Eryani K, Cheng J, Abé T, Yamazaki M, Maruyama S, Tsuneki M, Essa A, Babkair H, Saku T
J Cell Physiol 2013 Oct;228(10):1977-88. doi: 10.1002/jcp.24364. PMID: 23526486
Xie W, Hu K, Xu F, Zhou D, He J, Shi J, Luo Y, Zhu J, Zhang J, Lin M, Ye X, Huang H, Cai Z
Ann Hematol 2013 Apr;92(4):481-6. Epub 2012 Dec 13 doi: 10.1007/s00277-012-1644-6. [Epub ahead of print] PMID: 23238896Free PMC Article
Tan LH, Lum LC, Omar SF, Kan FK
J Clin Virol 2012 Sep;55(1):79-82. Epub 2012 Jul 11 doi: 10.1016/j.jcv.2012.06.005. [Epub ahead of print] PMID: 22789140
Valentín SM, Montalván E, Sánchez JL
Am J Dermatopathol 2010 Oct;32(7):716-9. doi: 10.1097/DAD.0b013e3181d775cf. PMID: 20859080

Recent systematic reviews

Atteritano M, David A, Bagnato G, Beninati C, Frisina A, Iaria C, Bagnato G, Cascio A
Eur Rev Med Pharmacol Sci 2012 Oct;16(10):1414-24. PMID: 23104659
Cascio A, Pernice LM, Barberi G, Delfino D, Biondo C, Beninati C, Mancuso G, Rodriguez-Morales AJ, Iaria C
Eur Rev Med Pharmacol Sci 2012 Oct;16(10):1324-37. PMID: 23104648
Tseng YT, Sheng WH, Lin BH, Lin CW, Wang JT, Chen YC, Chang SC
J Microbiol Immunol Infect 2011 Jun;44(3):191-7. Epub 2011 Jan 20 doi: 10.1016/j.jmii.2011.01.027. [Epub ahead of print] PMID: 21524613
Créput C, Galicier L, Buyse S, Azoulay E
Intensive Care Med 2008 Jul;34(7):1177-87. Epub 2008 Apr 22 doi: 10.1007/s00134-008-1111-y. [Epub ahead of print] PMID: 18427781
Strauss R, Neureiter D, Westenburger B, Wehler M, Kirchner T, Hahn EG
Crit Care Med 2004 Jun;32(6):1316-21. PMID: 15187513

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