Paris-Trousseau thrombocytopenia

Paris-Trousseau thrombocytopenia (TCPT) is a genetic condition known as a contiguous gene syndrome. This means that a group of genes in a specific region is affected, which leads to certain clinical features. People with this condition often experience a mild bleeding tendency and have a lower than normal number of platelets (thrombocytopenia). In addition to bleeding issues, there may be distinctive facial features (dysmorphic facies) and unusual findings in platelets such as giant alpha-granules. There can also be problems with the development of the cells that make platelets (dysmegakaryopoiesis).

Common signs of this condition include a mild tendency to bleed and variable levels of thrombocytopenia, meaning that the platelet count can differ among affected people. Some may also show unique facial features and abnormalities in the size and appearance of their platelets.

Paris-Trousseau thrombocytopenia is caused by a change in a group of genes located close together, which is why it is called a contiguous gene syndrome. The condition is linked to genes such as TCPT. This genetic change affects how platelets form and function, leading to the symptoms observed.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.