Griscelli Syndrome Treatment & Management

Updated: Jul 26, 2019
  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
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Treatment

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. [48] Similarly, a Swedish study with 5 patients with Griscelli syndrome type 2 responded to stem cell transplantation. [49, 50]

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

Patients must be aggressively supported and monitored when experiencing hemophagocytic syndrome (HS). Care can require antibiotics and systemic support. Patients who have seizures must be monitored and positioned accordingly.

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Surgical Care

Bone marrow transplantation is the most effective treatment of this condition. Bone marrow transplantation is the only possible cure for Griscelli syndrome. [52] 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.

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Consultations

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.

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Diet

No special diet is recommended for patients with Griscelli syndrome.

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Activity

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.

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Prevention

Morphologic examination of peripheral blood or cultured amniotic and chorionic villi cells can help in prenatal diagnosis of Griscelli syndrome.

Prenatal diagnosis of Griscelli syndrome has been accomplished by examination of hair from a biopsy sample of fetal scalp obtained at 21 weeks of gestation. A fetus that had such a biopsy was aborted. These results were confirmed by a postabortion examination of the fetus revealing silvery hair and characteristic microscopic findings.

With cloning of the Griscelli syndrome genes, direct mutation-based carrier detection and prenatal diagnosis currently appears possible in families with defined MYO5A or RAB27A gene mutations. In addition, given the proximity of the 2 genes responsible for Griscelli syndrome, polymorphic markers linked to the Griscelli syndrome locus in the band 15q21 region can be used for identifying the presence of the gene even if the precise mutation has not yet been identified in a family.

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Long-Term Monitoring

Because patients can have seizures and HS, they must be carefully monitored by their caregivers.

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