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X-linked Thrombocytopenia (XLT) (Genetic Disorder)

Name of disease:

X-linked Thrombocytopenia (XLT) (Genetic Disorder)

ICD-10 diagnosis code:

D69.4

Causes:

Most cases of X-linked thrombocytopenia syndrome are associated with genetic causes, and it can run in families in X-linked recessive pattern. It is caused by the mutation of gene WAS

Mode of inheritance:

Most cases are inherited from parents in X-linked recessive pattern.

Prevalence:

1-10/ 1,000,000 in males and rarer in females

Diagnosis:

The diagnosis of X-linked thrombocytopenia is based on the symptoms of the patients to see if they have easy bruising, mild anemia and mucosal bleeding Flow cytometry and western blotting would also be used to confirm the diagnosis Molecular genetic testing for WAS gene mutation can be done to confirm the diagnosis

Age of onset:

Infancy

Common signs and symptoms:

Easy bruising Mucosal bleeding Easy nose bleeding Anemia Increased risk of brain hemorrhages Spontaneous bleeding

Available treatments (medicinal and non-medicinal):

Current treatment for X-linked thrombocytopenia is mainly supportive and symptomatic. For example, transfusion of platelets could be used to replenish the low platelet count. To improve the platelet count, splenectomy could be used.

Disease management tips:

Although splenectomy could be used to improve platelet counts, it could increase the risk of life-threatening infections. Therefore, patients must take antibiotics for the rest of their life to avoid fatal bacterial infection or bacteremia. Hematopoietic stem cell transplantation could be a treatment option for patients despite the associated risks. Treatment with corticosteroids or intravenous immunoglobulin could have a beneficial impact on platelet counts.

References:

https://medlineplus.gov/genetics/condition/x-linked-thrombocytopenia/#resources http://atlasgeneticsoncology.org/Kprones/XlinkThrombocytopenID10170.html

Other useful websites:

Patient Groups: International Fibrodysplasia Ossificans Progressive Associationhttps://www.ifopa.org