Hemophagocytic Lymphohistiocytosis

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Annotated Information

Classification and Resources

ID 32
ICD-10 ICD10CM:D76.1;
ICD-9-CM ICD9CM:288.4;
OMIM OMIM:267700;OMIM:603552;OMIM:603553;OMIM:608898;OMIM:613101;
SNOMED-CT SNOMEDCT_2010_1_31:127069007;SNOMEDCT_2010_1_31:190958003;SNOMEDCT_2010_1_31:234437005;
Orphanet
MeSH MSH:C537250;MSH:D051359;
DO

Defination

Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder It is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages characterised by proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines It is classified as one of the cytokine storm syndromes~

Synonyms

haemophagocytic syndrome  ; Hemophagocytic lymphohistiocytosis, familial, 2 RELATED ; Hemophagocytic syndrome  ; HPS  ;

Etiology

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Diagnosis

The differential diagnosis of HLH includes secondary HLH and macrophage-activation syndrome or other primary immunodeficiencies that present with hemophagocytic lymphohistiocytosis, such as X-linked lymphoproliferative disease~Other conditions that may be confused with this condition include autoimmune lymphoproliferative syndrome~The diagnosis of acquired, or secondary, HLH is usually made in association with infection by viruses, bacteria, fungi, or parasites or in association with lymphoma, autoimmune disease, or metabolic disease Acquired HLH may have decreased, normal, or increased NK cell activity~Griscelli syndrome[edit]~A major differential of HLH is Griscelli syndrome (type ) This is a rare (less than reported cases) autosomal recessive disorder characterized by partial albinism, hepatosplenomegaly, pancytopenia, hepatitis, immunologic abnormalities, and lymphohistiocytosis Most cases have been diagnosed between months and years of age, with a mean age of about months~Three type of Griscelli syndrome are recognised: Type have neurologic symptoms and mutations in MYOA Prognosis depends on the severity of neurologic manifestations Type have mutations in RABA and haemophagocytic syndrome, with abnormal T-cell and macrophage activation This type has a grave prognosis if untreated Type have mutations in melanophilin and are characterized by partial albinism This type does not pose a threat to those so affected~

Symptoms

The differential diagnosis of HLH includes secondary HLH and macrophage-activation syndrome or other primary immunodeficiencies that present with hemophagocytic lymphohistiocytosis, such as X-linked lymphoproliferative disease~Other conditions that may be confused with this condition include autoimmune lymphoproliferative syndrome~The diagnosis of acquired, or secondary, HLH is usually made in association with infection by viruses, bacteria, fungi, or parasites or in association with lymphoma, autoimmune disease, or metabolic disease Acquired HLH may have decreased, normal, or increased NK cell activity~Griscelli syndrome[edit]~A major differential of HLH is Griscelli syndrome (type ) This is a rare (less than reported cases) autosomal recessive disorder characterized by partial albinism, hepatosplenomegaly, pancytopenia, hepatitis, immunologic abnormalities, and lymphohistiocytosis Most cases have been diagnosed between months and years of age, with a mean age of about months~Three type of Griscelli syndrome are recognised: Type have neurologic symptoms and mutations in MYOA Prognosis depends on the severity of neurologic manifestations Type have mutations in RABA and haemophagocytic syndrome, with abnormal T-cell and macrophage activation This type has a grave prognosis if untreated Type have mutations in melanophilin and are characterized by partial albinism This type does not pose a threat to those so affected~

Treatment

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Labs working on this disease

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References

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