Griscelli Syndrome Treatment & Management

Updated: Jan 19, 2016
  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
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Medical Care

Medical treatment of patients with Griscelli syndrome is difficult. The only real treatment for the hemophagocytic lymphohistiocytosis syndromes of which Griscelli syndrome is a part is stem cell transplantation. This has received evidence-based support in an Italian study of 61 patients with Griscelli syndrome) reported in 2009. [44] Similarly, a Swedish study with 5 patients with Griscelli syndrome type 2 responded to stem cell transplantation. [45]

For patients with defects in RAB27A, antibiotics and antiviral agents are used with mixed effects. Similarly, medications may not control the neurologic symptoms of the disease.

In Griscelli syndrome related to MYO5A mutations, no specific treatment exists because the defect is in the brain rather than in the blood cells as in cases caused by the RAB27A mutation. The severe neurologic impairment and retarded psychomotor development do not improve with time.

Only bone marrow transplantation offers a possibility of extended survival. In preparation for transplantation, particularly in patients with Griscelli syndrome caused by a mutation in RAB27A, various immunosuppressive regimens have been used to attenuate hemophagocytic syndrome (HS) (accelerated phase).

Mehdizadeh and Zamani [46] noted a 10-year-old boy with Griscelli syndrome and macrophage activation syndrome, which was controlled with immunosuppressive therapy.


Surgical Care

Bone marrow transplantation is the most effective treatment of this condition. Bone marrow transplantation is the only possible cure for Griscelli syndrome. [47] Even a low number of donor cells in the patient's bone marrow can be sufficient to control symptoms of Griscelli syndrome in cases caused by mutations in RAB27A.



The specialists who are most often initially consulted for treatment of this condition are geneticists, hematologists, dermatologists, neurologists, and pediatricians. Once a diagnosis is made, such specialists should consider the need for chemotherapy in patients and how to proceed with bone marrow transplantation.



No special diet is recommended for patients with Griscelli syndrome.



Because patients with Griscelli syndrome can have severe neurologic and immunologic problems, their activities are usually limited. For patients, avoiding interactions that expose them to infections is important. Because patients with Griscelli syndrome can have seizures that are difficult to control, they must be actively monitored.