Asplenia

What is Asplenia?

Asplenia is a medical condition which is the absence of the normal functioning of the spleen. This term has a literal meaning of “absent spleen” but does not entirely suggest its absence physically. Taking it literally as absent is not the case in most patients. There are cases where underdevelopment of the spleen is the problem, which is why its function is not fully reached.

The spleen is an important and significant organ of the body that has an important role in filtering blood and maintaining the function of our immune system. Most cases present that there is a multi-organ involvement because of asplenia.

The incidence rate for asplenia is, fortunately, low. There has been at least 1 case of asplenia out of 10,000-20,000 recorded live births. According to research, men are more affected with asplenia compared to women. It is also reported that 1% to 3% of children born with congenital heart defects have asplenia.

Symptoms of Asplenia

There are a number of organs affected when asplenia develops. Because of the non-working or absent spleen, the following are manifested by the patient:

Prone to infection

Because the immune system is affected, as spleen’s function is not met, the child/infant becomes susceptible and prone to infections.

Digestive tract problems

The affected are likely to suffer from digestive tract disorders because of intestinal malrotation. This phenomenon is an anomaly that is described as the rotation of our midgut. The most common manifestation of asplenia with digestion is obstruction which can be fatal and may require emergent surgical intervention.

Stomach and liver malpositioning

There shall be a significant change in the location of the stomach with an absent spleen. The stomach, normally located central abdominal quadrant, tends to be malpositioned that can result to twisting. On the other hand, the liver is also affected which is normally located at the upper right side of the abdominal quadrant.

When asplenia develops, the liver tends to move to the middle part of the body and may take a larger space in the opposite side. These can induce obstruction that can impede proper digestion and impairment in supplying blood to stomach.

Heart affectation

Children born with asplenia are likely to suffer from heart disease. This can lead to cyanosis (blue discoloration of the skin and membranes) and respiratory problems. Manifestations of children with a congenital heart disease are similar with children with asplenia manifesting heart affectation.

In patients with asplenia-induced heart problems are most likely suffering from abnormal pulmonary venous return. Because of such anomaly, the child tends to have problems with respiration and proper oxygenation of the whole body system. Atrial septal defect (hole between the right and left atrium) is another anomaly developed with asplenia where less oxygenated blood is distributed to the body.

Lungs affectation

The normal structure of the lungs is not met with asplenia. Instead of having 2 lobes in the left lung, affected children develop 3 lobes.

Asplenia

Picture : X Ray showing – Asplenia

Causes of Asplenia

It has been reported that asplenia is genetically linked. However, proper support to such has been unreinforced because of no identifiable pattern of the condition in a family tree. There have been speculations that non-working genes made the condition a possibility.

Reports have been made; connecting to parents who are somehow related can possibly pass an autosomal recessive gene to one of their children. About 25% chance is given to a child born from parents who carry this autosomal recessive gene.

There have been no clear confirmation of such but some acquire it in this manner. Another study involves inheritance from an autosomal dominant manner. Therefore, it gives both partners a 50% chance of passing the causative gene. X-linked inheritance is also presented for causing asplenia.

This places women as a susceptible victim of asplenia. Women who carry this X-linked gene of asplenia will at least pass them to one of her 2 children, a fifty percent chance. These theories have been an ongoing study as there has been no exact gene identified aside as from identifying it as a non-working gene.

Congenital causes  – are due to genetic causes like  heterotaxy syndrome.

Acquired causes – are due to several reasons like:

  • Splenectomy which is done due to tumor or rupture from trauma
  • Autosplenectomy (means : spleen is destroyed due to the underlying diseases) – due to Sickle cell anemia

How is Asplenia Diagnosed ?

Thorough and considered definitive diagnostic examination for asplenia is through imaging studies. An MRI is very helpful in detecting problems with the organs as well as help in checking for their positioning. Other imaging tests necessary to identify the presentation of the disease is through an echocardiogram. This test can detect problems of the cardiovascular system which are manifested with asplenia. Chest X-ray can also help in viewing the position of the heart and see problems with the lungs. Ultrasound can detect location and probable malformation of the highly possible affected organs.

A screening test is done to suspected patients for asplenia. Heinz and Howell-Jolly bodies are tested in the blood as this screens absence of the spleen. When these bodies are found present in the blood circulation, it is suggestive of asplenia. This should not be considered as the definitive diagnostic test as this can also be used in detecting anemia.

How is Asplenia Managed?

Treatment for asplenia is to make sure the symptoms are alleviated or properly managed. The following interventions are performed to patients with asplenia:

Surgery

When defects are detected, wherever they may be, surgery may be suggested. Most cases, a heart defect is prioritized but may not always be performed because of the risks it provides. However, when case present intestinal obstruction, emergent surgery is done to correct the problem.

Protection

This can be acquired by providing proper vaccinations to the child. This is necessary as they are prone to infection because the spleen’s function is not met. When infection is acquired, providing antibiotics is done to avoid worsening. Antibiotic prophylaxis is also provided which can help avoid development of infection as one is at risk.

Note : It is advised that splenectomized persons should take the  following vaccinations prior to the planned splenectomy surgery:

  • Haemophilus influenzae type b vaccine
  • Pneumococcal vaccines
  • Influenza vaccine
  • Meningococcal conjugate vaccine

Please talk to your physician regarding  the vaccine/vaccines that should be taken based on your clinical status, age and other factors.

Provide awareness

It is very necessary that the child or person with asplenia should be wearing an alert warning bracelet or carry a warning card. This shall alert any person or health personnel that he or she needs emergent help when their condition leads to illness, especially when they are in public places.

Prognosis of Asplenia

When not properly managed, prognosis of the child with asplenia would be very undesirable or simply poor. Accordingly, about 80% of reported cases of infants with asplenia have a life span of a year only. This is due to the number of affected organs arising from asplenia, especially when the heart is affected. When proper intervention is provided in time, mortality of the child may be lessened with proper ongoing management.

References

http://en.wikipedia.org/wiki/Asplenia

http://emedicine.medscape.com/article/406116-overview

http://www.healthline.com/galecontent/asplenia

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