Treatment of Glycogen Storage Disease Type I (GSD Ib) with Neutropenia

Clinical Scenario

This protocol addresses patients with Glycogen storage disease type Ib (GSD Ib) who have developed neutropenia — a recognised complication of this subtype that markedly increases the risk of recurrent fever, infections, and enterocolitis.

GSD type Ib Neutropenia

Treatment Approach

The established first-line intervention involves granulocyte colony-stimulating factor (G-CSF) therapy, titrated incrementally to the lowest effective dose sufficient to restore adequate neutrophil levels.

Full dosing algorithm, titration schedule, and monitoring criteria are detailed in the complete protocol…

Treatment Goal

Achieve an absolute neutrophil count (ANC) of more than 500 to 1.0 × 10⁹/l.

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References

DOI: 10.1038/gim.2014.128

Neutropenic patients with GSD Ib should be treated with G-CSF, particularly if there is already a history and pattern of fever, infections, or enterocolitis.

The lowest effective G-CSF dose should be used to avoid worsening of splenomegaly, hypersplenism, hepatomegaly, and bone pain.

The G-CSF dose should be increased stepwise at approximately 2-week intervals until the target ANC of more than 500 to up to 1.0 × 10⁹/l is reached.

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