Table 6.

Chediak-Higashi Syndrome: Recommended Surveillance

System/ConcernEvaluationFrequency
Ocular Ophthalmologic examAt least annually or as directed by treating ophthalmologist
Skin Dermatologic exam for routine monitoring of persons w/hypopigmentationAt least annually
Hematology/Oncology Post HSCT: monitoring of chimerism 1, 2 & ongoing post-transplant follow upAccording to local center recommendations
If persons have not undergone HSCT, monitor for signs of HLH using combination of:
  • Abdominal ultrasound
  • Complete blood count
  • Ferritin concentration
  • Serum triglycerides
  • Fibrinogen level
  • Soluble interleukin-2 receptor level
Consider bone marrow biopsy if findings of above studies suggest HLH.		At least annually, but more frequently if changes in clinical status
Education Monitor developmental progress & educational needs.At each visit
Cognitive issues By primary care physician or psychologist/neuropsychologistIf changes in clinical status
Neurologic Neurologic exam for signs of peripheral neuropathy, ataxia, signs suggestive of parkinsonism, or other changes from baseline daily functioning & independenceSpecialized testing at discretion of treating neurologist based on clinical findings
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skillsAt each visit
Family/Community Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

HLH = hemophagocytic lymphohistiocytosis; HSCT= hematopoietic stem cell transplantation; OT = occupational therapy; PT = physical therapy

1.

Especially in those who undergo HSCT with reduced-intensity conditioning, as the incidence of mixed chimerism in the bone marrow is higher than in those who undergo traditional conditioning.

2.

Recent studies suggest that 20%-30% donor chimerism is likely enough to protect against reactivation [Hartz et al 2016].

From: Chediak-Higashi Syndrome

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