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Flashcards in Histiocytic disorders Deck (15)
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What is the diagnostic work up for LCH?

- Liver function tests; abdo US if abnormal
- Chest X-R (CT-scan if pulmonary abnormalities)
- Skeletal survey, PET-scan
- Specific gravity on morning urine sample
- MRI of the head if Sx or DI
- Bone marrow if abnormal CBC
- Biopsies of involved lesions if needed


Which organs are considered high risk in LCH?

- Spleen
- Liver
- Bone marrow


What is the most common presentation of LCH?

Monostotic bone lesion


What are the immunophenotypic hallmarks of LCH?

CD1a, langerin, S100, fascin
60%: BRAF V600E (+)ve


What is the current standard of care for low-risk multisystem LCH?

Prednisone + vinblastine for 12 months


What is the natural history of DI in LCH?

Usually irreversible, and not improved by systemic therapy (same as other endocrinopathies in LCH)


What is the immunophenotype of juvenile xanthogranuloma?

CD1a (-), S100 (-), langerin (-)
CD68+, CD163+, fascin +


What are the diseases associated with juvenile xanthogranuloma?

NF1, Noonan, JMML


What is the natural history of juvenile xanthogranuloma?

Mostly spontaneous regression; occasional fatalities in cases involving CNS or liver (but extranodal involvement rare, about 5% of cases)


What is the immunophenotype of Rosai-Dorfman disease?

CD1a(-), Langerin (-)ve
S100+, fascin+, CD68+, CD163+


What is the most common clinical presentation of Rosai-Dorfman disease? What organs are most often affected?

Painless, massive cervical lymphadenopathy
Extra-nodal involvement (40%): skin, upper respiratory tract, bone


Treatment of HLH

Etoposide, glucocorticoids, cyclosporine, IT MTX
(based on HLH-1994 and HLH-2004)
Recurrent or familial HLH: allogeneic HSCT


Prognosis of familial HLH

Fatal without HSCT
50% with HSCT


Causes of familial HLH (list 5)

Non-syndromic HLH: FHL1 to FHL5
(includes FLH2, perforin gene, and FHL4, syntaxin gene)
Syndromic: Chediak-Higashi, Griscelli type 2, lysinuric protein intolerance, XLP1 - 2


Causes of secondary HLH

- Infection: EBV (55%), herpervirus, more rarely bacteria, fungi, protozoa
- Malignancy: T-cell malignancies
- Auto-immune disease: JIA, SLE
- Drug-induced: following blinatumomab