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 primary form: FHL1 mutation or FHL2 mutation; autosomal recessive
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
Signs fever, splenomegaly, jaundice
Prevalence rare
Prognosis 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. https://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.