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familial histiocytic reticulosis; familial hemophagocytic reticulosis; familial hemophagocytic lymphohistiocytosis; familial erythrophagocytic lymphohistiocytosis
Epidemiology: rare
Pathology:
- immune dysregulation
- hypercytokinemia
- defective natural killer cell function
- excessive T-cell activation & macrophage activation
- hemophagocytosis is a prominent feature
- infiltrates of macrophages & activated T lymphocytes in lymph nodes, in liver, spleen, bone marrow, nervous system (non-malignant)
Genetics:
- multiple genes involved in different forms
Clinical manifestations:
- lethal disorder of early childhood
- fever
- hepatosplenomegaly
- neurological abnormalities ranging from irritability & hypotonia to seizures, cranial nerve deficits, & ataxia
Laboratory:
- complete blood count (CBC): cytopenia
- lipid panel: hypertriglyceridemia
- hypofibrinogenemia
- low plasma fibrinogen
- low ESR
Management:
1) epipodophyllotoxins
2) immunosuppression
3) bone marrow transplant
4) without treatment, disease progresses rapidly
Specific
familial hemophagocytic lymphohistiocytosis type 1 (HPLH1)
familial hemophagocytic lymphohistiocytosis type 2 (HPLH2)
familial hemophagocytic lymphohistiocytosis type 3 (HPLH3)
familial hemophagocytic lymphohistiocytosis type 4 (HPLH4)
Omenn syndrome; familial reticuloendotheliosis with eosinophilia
General
genetic disease of the blood/bone marrow
genetic disease of the immune system
hemophagocytic lymphohistiocytosis; hemophagocytic syndrome
Database Correlations
OMIM 267700