Thrombocytopenia without a radius: Symptoms, Causes, Diagnosis, and Treatment Options
Thrombocytopenia Absent Radius (TAR) is a rare, inherited genetic disorder that primarily affects children. Characterised by the absence of the radius on both arms and a significantly decreased platelet count, TAR can present various challenges for those affected and their caregivers.
The cause of TAR is a genetic defect, making it a congenital genetic disorder. This condition is passed on through autosomal recessive inheritance, meaning both parents must carry the defective gene to pass it onto their child.
A clinical examination is the initial step in diagnosing TAR. A doctor may order additional tests such as a complete blood count, X-ray, ultrasonography, cardiac tests, and genetic testing to confirm the diagnosis.
Treatment for TAR involves a combination of medical and surgical interventions. Medical therapy includes platelet transfusion and avoiding cow milk due to the risk of allergic reactions. Infants with TAR may require orthopedic surgery to correct any skeletal deformities. The specific treatment options will depend on the severity of the condition and any accompanying abnormalities.
Infants with TAR may have other abnormalities such as low-set ears, cardiac problems, and a small lower jaw. The severity of skeletal deformity and thrombocytopenia varies for each child, and the outlook in babies with less severe forms of TAR is typically favourable, especially with early diagnosis and prompt treatment.
However, severe thrombocytopenia in infants with TAR may lead to the risk of developing severe bleeding, which can be life-threatening and may affect cognitive function. Caregivers and parents may have concerns or questions about the condition, such as potential complications, symptoms, future outlook, specific treatment options, and recurrence in future pregnancies.
Scientists have linked mutations in the RBM8A gene to TAR. Follow-up care is essential in monitoring the infant's response to therapy, including physical examination and conducting and interpreting laboratory tests.
The life expectancy and outlook of infants with TAR syndrome typically depend on the severity of the condition. With proper care, many children with TAR can lead fulfilling lives. It is important for caregivers and parents to work closely with healthcare professionals to ensure the best possible outcomes for their child.
