How is Ivemark Syndrome diagnosed?
See how Ivemark Syndrome is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Ivemark Syndrome
Ivemark Syndrome, also known as asplenia syndrome, is a rare congenital disorder characterized by the absence or underdevelopment of the spleen. It is typically diagnosed during infancy or early childhood. The diagnosis of Ivemark Syndrome involves a combination of clinical evaluation, imaging tests, and laboratory investigations.
Clinical evaluation: A thorough physical examination is conducted by a healthcare professional to assess the signs and symptoms associated with Ivemark Syndrome. These may include heart defects, abnormalities in the structure of the liver, malformations of the gastrointestinal tract, and other related features.
Imaging tests: Various imaging techniques are employed to visualize the internal organs and identify any abnormalities. Ultrasound is commonly used to examine the liver, heart, and other organs. It can help determine the absence or malformation of the spleen. Additionally, echocardiography may be performed to assess the structure and function of the heart.
Laboratory investigations: Blood tests are conducted to evaluate the immune system and detect any associated abnormalities. A complete blood count (CBC) may reveal changes in the number and types of blood cells. Immunoglobulin levels and antibody response tests can assess the immune function. Genetic testing may also be considered to identify any underlying genetic mutations associated with Ivemark Syndrome.
The diagnosis of Ivemark Syndrome requires the presence of specific criteria, including asplenia (absence of spleen) or polysplenia (multiple small spleens), along with other associated abnormalities. It is important to differentiate Ivemark Syndrome from other conditions that may present with similar features, such as heterotaxy syndrome.
Once a diagnosis is confirmed, additional evaluations may be necessary to assess the extent of organ involvement and associated complications. This may involve consultations with various specialists, such as cardiologists, gastroenterologists, and immunologists, to provide comprehensive care and management for individuals with Ivemark Syndrome.
