It’s overwhelming to hear the diagnosis of Isolated Congenital Asplenia. So many questions come racing to mind. We’re here to help give you answers.
What is asplenia?
Asplenia is the absence of the spleen.
There are many ways a person can be classified as having Asplenia. Most common is when a child or adult has their spleen removed due to trauma (a splenectomy).
Less common is when the spleen is missing in conjunction with a host of other abnormalities, such as in Ivemark Syndrome or heterotaxy (a condition characterized by internal organs that are not arranged as would be expected in the chest and abdomen).
T.E.A.M. 4 Travis focuses on when a child is born without a functioning spleen. This condition is known as Isolated Congenital Asplenia, or sometimes Congenital Splenic Syndrome.(1)
What is Isolated Congenital Asplenia?
Isolated Congenital Asplenia, or ICA, is a birth defect in which there is no spleen, there is only part of a spleen (splenic remnant) or there is a spleen but it does not function. Unlike Ivemark Syndrome, in Isolated Congenital Asplenia, there are no other developmental abnormalities, making detection even more difficult.
While rare, Isolated Congenital Asplenia is a serious and potentially fatal disease as it impacts the spleen, a key player in our immune system. Without a spleen, a bacterial infection could be life threatening to a newborn or child.
What does the spleen do?
The spleen is located in the upper part of the abdomen and is a vital part of our immune defense system. It has two essential functions. The spleen fights against infections, specifically encapsulated microorganisms (a class of bacteria), by producing antibodies. It also filters our blood, removing old red blood cells and bacteria from circulation.
How common is Isolated Congenital Asplenia?
Exactly how common Isolated Congenital Asplenia is unknown. One study showed Isolated Congenital Asplenia in 1 per 2 million newborns (2). Other experts believe the frequency of Congenital Asplenia to be 1 in 600,000 births (3). The doctors on our Scientific Advisory Board believe the frequency could be as high as 1 in 50,000 births, as oftentimes, the condition is detected only in an autopsy or postmortem.
Is Isolated Congenital Asplenia deadly?
Yes, if not detected and properly monitored. Children with Isolated Congenital Asplenia are prone to developing severe and recurrent infections, such as sepsis (a life threatening blood infection) and infections by pneumococcus and haemophilus influenzae. That’s why it’s important to screen for Isolated Congenital Asplenia as soon as possible.
How do I know if my child has Asplenia?
The spleen is not palpable (able to be felt) and prenatal screenings for Asplenia do not exist. Often, Isolated Congenital Asplenia may not be detected until after a child dies. If a child has Isolated Congenital Asplenia, they may suddenly develop a high fever and show other signs of sepsis (mottled skin, extreme lethargy, difficulty urinating).
Some doctors have found Isolated Congenital Asplenia through a blood test, where they discovered the presence of Howell-Jolly bodies in the red blood cells. This, along with an abdominal ultrasound, may be used to confirm Isolated Congenital Asplenia.
T.E.A.M. 4 Travis is focused on providing information about Isolated Congenital Asplenia to the medical community to raise awareness and promote newborn screenings.
What are the signs and symptoms of Isolated Congenital Asplenia?
Patients with Isolated Congenital Asplenia can be asymptomatic, meaning they show no signs. Common symptoms of Isolated Congenital Asplenia include: malaise, fatigue, fever and signs of altered brain functionality such as difficulty concentrating, memory loss and personality changes.
What causes Asplenia? Is Asplenia genetic?
About 40% of cases are caused by mutations in the gene called RPSA. This gene helps to make a protein called ribosomal protein SA. The function of ribosomal protein SA is unclear, but research suggests it helps control certain proteins that are part of prenatal development.
The mutation of the RPSA gene can be inherited from an affected parent or can arise during prenatal development. The cause of Isolated Congenital Asplenia outside of the gene mutation of RPSA is unknown.
How do you treat Asplenia?
Because children with Isolated Congenital Asplenia are at risk of developing serious and recurring infections, your doctor may prescribe antibiotics or recommend an alternative vaccine schedule. They may refer you to an Infectious Disease specialist, Immunologist or Hematologist for further treatment. A term you may hear is antibiotic prophylaxis, which refers to taking antibiotics before a treatment to decrease the chance of infection.