# Refractory Thrombotic Thrombocytopenic Purpura in a Patient With Triple X Syndrome

**Authors:** Pedro Arthur da Rocha Ribas, Julia Ghiraldi, Giovanna Gugelmin, Lucas Wagner Gortz, Mauricio de Carvalho, Gustavo Lenci Marques

PMC · DOI: 10.7759/cureus.67631 · Cureus · 2024-08-23

## TL;DR

A patient with triple X syndrome developed a rare autoimmune condition that did not respond to standard treatments but improved with vincristine.

## Contribution

This is the first reported case in Brazil of triple X syndrome co-occurring with refractory thrombotic thrombocytopenic purpura.

## Key findings

- The patient's TTP was unresponsive to plasmapheresis and rituximab.
- Vincristine administration led to disease remission.
- This case highlights a rare genetic and autoimmune condition coexistence.

## Abstract

Clinical manifestations of triple X syndrome (karyotype 47, XXX) can include autoimmune diseases. We describe the occurrence of acquired thrombotic thrombocytopenic purpura (TTP), an autoimmune condition, refractory to plasmapheresis and rituximab in a patient with triple X syndrome who required vincristine administration for disease remission. To our knowledge, this rare coexistence is the first of its kind reported in Brazil.

## Linked entities

- **Chemicals:** vincristine (PubChem CID 5978)
- **Diseases:** triple X syndrome (MONDO:0018066), thrombotic thrombocytopenic purpura (MONDO:0018896)

## Full-text entities

- **Diseases:** autoimmune condition (MESH:D001327), TTP (MESH:D011697), Triple X Syndrome (MESH:C535318)
- **Chemicals:** rituximab (MESH:D000069283), vincristine (MESH:D014750)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

25 references — full list in the complete paper: https://tomesphere.com/paper/PMC11343689/full.md

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Source: https://tomesphere.com/paper/PMC11343689