Hemophagocytic syndrome

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Hemophagocytic syndrome
Diagnosis in short

Micrograph showing phagocytosed RBCs in hemophagocytic syndrome. H&E stain.

LM macrophages containing erythrocytes (red blood cells), leukocytes, platelets
Subtypes primary, secondary
LM DDx overlapping cells, emperipolesis
Molecular FHL1 mutation or FHL2 mutation in primary form
Site lymph nodes, liver, spleen, bone marrow, others

Associated Dx only in secondary form (EBV infection, malignancy, rheumatologic disease)
Clinical history +/-consanguinity for primary form (autosomal recessive)
Signs fever, splenomegaly, jaundice
Prevalence rare
Blood work +/-EBV serology (secondary form), +/-HIV serology (secondary form)
Prognosis dependent on underlying cause
Clin. DDx malignancy
Treatment dependent on underlying cause

Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis, is a rare condition often associated with viral infections.

Clinical

Features:[1]

Involved organs:

Classification

Classified by etiology:[2]

  1. Primary, i.e. inherited:[3]
    • Etiology: dysfunction of cytotoxic T lymphocytes with macrophage activating cytokines.
    • Autosomal recessive.
    • Two genes identified:
  2. Secondary:
    • Infection, e.g. EBV (most common infectious etiology[6]),[7] HIV.
    • Malignancy.
    • Rheumatologic condition.

Microscopic

Features:[1]

  • Macrophages with phagocytosed:

DDx:

  • Overlapping cells (red blood cells overlapping macrophages).
  • Emperipolesis in the context of other pathology.

Images

www:

See also

References

  1. 1.0 1.1 Fisman DN (2000). "Hemophagocytic syndromes and infection". Emerging Infect. Dis. 6 (6): 601–8. PMC 2640913. PMID 11076718. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640913/?tool=pubmed.
  2. Gupta S, Weitzman S (January 2010). "Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy". Expert Rev Clin Immunol 6 (1): 137–54. PMID 20383897.
  3. Nagai K, Yamamoto K, Fujiwara H, et al. (2010). "Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes". PLoS ONE 5 (11): e14173. doi:10.1371/journal.pone.0014173. PMC 2994802. PMID 21152410. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2994802/.
  4. Online 'Mendelian Inheritance in Man' (OMIM) 603552
  5. Online 'Mendelian Inheritance in Man' (OMIM) 603553
  6. Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 576. ISBN 978-0781765275.
  7. Jin YK, Xie ZD, Yang S, Lu G, Shen KL (June 2010). "Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis: a retrospective study of 78 pediatric cases in mainland of China". Chin. Med. J. 123 (11): 1426–30. PMID 20819601.