TABLE III.
Specific Clinical Scenarios and Recommended Additional Testing in Children With LCH
| Clinical scenario and recommended additional testing |
|---|
| History of polyuria or polydipsia |
| Early morning urine specific gravity and osmolality |
| Blood electrolytes |
| Water deprivation test if possible |
| MRI of the heada |
| Bicytopenia, pancytopenia, or persistent unexplained single cytopenia |
| Other causes of anemia or thrombocytopenia has to be ruled out according to standard medical practice. If no other causes are found, the cytopenia is considered LCH-related |
| Bone marrow aspirate and trephine biopsy to exclude causes other than LCH b as exposant |
| Evaluation for features of macrophage activation and hemophagocytic syndrome (triglycerides and ferritin in addition to the coagulation studies in Table IIac |
| Liver dysfunction |
| If frank liver dysfunction (liver enzymes >5-fold upper limit of normal/bilirubin >5-fold upper limit of normal): consult a hepatologist and consider liver MRI which is preferable to retrograde cholangiography |
| Liver biopsy is only recommended if there is clinically significant liver involvement and the result will alter treatment (i.e., to differentiate between active LCH and sclerosing cholangitis) |
| Lung involvement (further testing is only needed in case of abnormal chest X-ray or symptoms/signs suggestive of lung involvement, or pulmonary findings not characteristic of LCH or suspicion of an atypical infection) |
| Lung high resolution computed tomography (HR-CT) or preferably low dose multi-detector HR-CT if available. Note that cysts and nodules are the only images typical of LCH; all other lesions are not diagnostic. In children already diagnosed with MS-LCH (see section “Clinical Classification”) low dose CT is sufficient in order to assess extent of pulmonary involvement, and reduce the radiation exposure |
| Lung function tests (if age appropriate) |
| Bronchoalveolar lavage (BAL): >5% CD1a + cells in BAL fluid may be diagnostic in a non-smokerd |
| Lung biopsy (if BAL is not diagnostic) |
| Suspected craniofacial bone lesions including maxilla and mandible |
| MRI of heada including the brain, hypothalamus–pituitary axis, and all craniofacial bones. If MRI not available, CT of the involved bone and the skull base is recommended |
| Aural discharge or suspected hearing impairment/mastoid involvement |
| Formal hearing assessment |
| MRI of heada or HR-CT of temporal bone |
| Vertebral lesions (even if only suspected) |
| MRI of spine to assess for soft tissue massess and to exclude spinal cord compression |
| Visual or neurological abnormalities |
| MRI of heada |
| Neurological assessment |
| Neuropsychometric assessment |
| Suspected other endocrine abnormality (i.e., short stature, growth failure, hypothalamic syndromes, precocious, or delayed puberty) |
| Endocrine assessment (including dynamic tests of the anterior pituitary and thyroid) |
| MRI of heada |
| Unexplained chronic diarrhea, failure to thrive, or evidence of malabsorption |
| Endoscopy |
| Biopsy |
(HR-)CT, (high resolution) computed tomography; MRI, magnetic resonance imaging.
a
See Appendix 1 for details.
bThe clinical significance of CD1a positivity in the bone marrow remains to be proven. An isolated finding of histiocytic infiltration on the bone marrow with no cytopenia is not a criterion for diagnosis or reactivation [57, 58].