# Mitapivat-Associated Rib Fracture in a Hemolytic Anemia Patient

**Authors:** Yasser Abouelkheer, Luisa Ladel, Daniel Boxer, Seaf Shafique

PMC · DOI: 10.7759/cureus.55658 · Cureus · 2024-03-06

## TL;DR

A 75-year-old woman with hemolytic anemia experienced rib fractures after starting Mitapivat, highlighting the need to screen for bone disease risk before treatment.

## Contribution

Reports a rare case of Mitapivat-induced rib fractures in a patient with pyruvate kinase deficiency.

## Key findings

- Mitapivat may cause rare but significant side effects like rib and vertebral fractures.
- Screening for bone mineral disease risk factors is recommended before initiating Mitapivat therapy.
- Gene therapy may offer future treatment for patients with metabolic bone disorders and hemolytic anemia.

## Abstract

Hereditary hemolytic anemia associated with pyruvate kinase deficiency is a rare hematological disorder that affects the glycolic pathway within red blood cells. The standard of care includes splenectomy, transfusions, and hematopoietic stem cell transplantation. However, these treatments can lead to common iatrogenic side effects such as infections, surgical complications, and iron overload. The novel drug therapy Mitapivat has shown promising results in terms of both efficacy and safety, but it can cause rare side effects such as fractures. In this report, we present the case of a 75-year-old female with hereditary hemolytic anemia caused by pyruvate kinase deficiency who suffered rib and vertebral body fractures after the initiation of Mitapivat. Screening for key risk factors of bone mineral disease can help identify patients who are at higher risk of developing fractures before starting therapy. In the future, gene therapy may provide an alternative treatment option for patients with hereditary hemolytic anemia with metabolic bone disorders.

## Linked entities

- **Chemicals:** Mitapivat (PubChem CID 59634741)
- **Diseases:** hereditary hemolytic anemia (MONDO:0003689), pyruvate kinase deficiency (MONDO:0009950)

## Full-text entities

- **Diseases:** fractures (MESH:D050723), infections (MESH:D007239), iron overload (MESH:D019190), Rib Fracture (MESH:D012253), Hereditary hemolytic anemia (MESH:D000745), bone mineral disease (MESH:D012080), Hemolytic Anemia (MESH:D000743), hematological disorder (MESH:D006402), pyruvate kinase deficiency (MESH:C564858), metabolic bone disorders (MESH:D001851)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

8 references — full list in the complete paper: https://tomesphere.com/paper/PMC10997202/full.md

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Source: https://tomesphere.com/paper/PMC10997202