Disease Information for Hemophagocytic lymphohistiocytosis (HLH)

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Clinical Manifestations
Signs & Symptoms
Lymphadenopathy Systemic
Associated Diseases & Rule outs
Associated Disease & Complications
EBV/B-cell Lymphoproliferative syndrome
Disease Mechanism & Classification
Class
CLASS/Immune System Disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 10q21-q22
Pathophysiology/Gene locus 10q22
Pathophysiology/Gene locus 9q21.3-q22
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus Chromosome 9
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Histiocyte/macrophage disorder (ex)
Pathophysiology/Specific immune defect for EBV
Process
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/Hypertrophic/Hyperplastic disorder (ex)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Immune system disorder (ex)
Synonyms
Synonym
Haemophagocyt lymphohistiocyto, Haemophagocytic lymphohistiocytosis, Haemophagocytic syndrome, Hemophagocytic Lymphohistiocytoses, Hemophagocytic Lymphohistiocytosis, Hemophagocytic lymphohistiocytosis (disorder), Hemophagocytic syndrome, Hemophagocytic syndrome (disorder), Hemophagocytic Syndromes, Lymphohistiocytoses Hemophagocytic, Lymphohistiocytosis Hemophagocytic, syndrome hemophagocytic, Synonym/FEL, Synonym/Hemophagocytic lymphohistiocytosis, familial, Synonym/HLH, Synonym/Lymphadenitis/hemophagocytic histiocytosis, Synonym/Massive Lymphadenopathy Syndrome, Synonym/Sinus Histiocytosis
Definition

Known also as sinus histiocytosis/massive lymphadenopathy syndrome; Hemophagocytic lymphohistiocytosis (HLH) is a rare immunologic disorder which is often fatal if not diagnosed and treated properly; HLH is currently described as either the"primary" (familial) form or the "secondary" forms associated with infections, malignancies, and "reactive" HLH associated with rheumatologic disorders (macrophage activation syndrome - MAS); Symptoms of primary (familial) HLH are usually evident within the first several months of life and may even develop in utero; Symptomatic presentation throughout childhood and even into young adulthood has been observed in familial cases, although this is less common; It is difficult to differentiate primary from secondary cases of HLH on the basis of symptoms, which are very similar; The onset of familial HLH is often associated with documented infection; Symptoms of HLH triggered by infection with Epstein Barr virus (EBV) may also be the first sign of other known immunodeficiency disorders in children and young adults, such as X-linked lymphoproliferative syndrome in boys; Thus, any case of primary or secondary HLH should be considered for genetic testing; pathology is lack of NK cells and cytotoxic T cells function which ar critical for virus defence

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External Links Related to Hemophagocytic lymphohistiocytosis (HLH)
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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