Genetics

Rare Genetic Diseases an Overview of Aagenaes Syndrome



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Aagenaes syndrome, which is also called cholestasis-lymphedema syndrome (or CLS), is listed as a "rare genetic disease" by the Office of Rare Diseases (ORD) from the National Institutes of Health (NIH). A rare disease is often deemed as such if it affects one person per every two thousand of a population.

Aagenaes syndrome is named after a Norwegian pediatrician by the name of Oystein Aagenaes, who first finalized the term in 1968 upon describing the condition. Those more likely to be affected come from Norwegian descent as more than half of all reported cases come from southern Norway, although it is also diagnosed in other parts of Europe and the United States.

The disease is an inherited one, although the genetic causes are unto this day unknown. It is said that those who typically marry amongst their own (like cousins who marry one another) are at a higher risk of passing on the syndrome. It is said that the gene which causes the syndrome is recessive in nature, and therefore usually becomes dominant when its allele (or same gene) is found.

It is commonly described by recurring cholestasis (the incapacity of bile to flow from liver to the duodenum or first section of the small intestine) and lymph-edema (swelling caused by fluid retention).

The condition often shows signs soon after the birth of an infant with the syndrome, and signs such as jaundice (yellowing of the skin) will appear, and then come and go at various times throughout the person’s life. During infancy or school age, legs will generally start to show signs of edema or swelling, and could progress as the patient ages. Other symptoms include: cirrhosis of the liver; an enlarged liver; inadequate bile secretion and underdeveloped lymph vessels among some others.

Since the condition is based on a lymphatic disorder, where the lymph vessels are not fully formed, patients typically experience swelling in the legs due to the accumulation of lymph in the tissues and liver problems from insufficient drainage. Lymph fluids are unable to drain properly due to a blockage in the lymphatic system.

As of yet, there is no full means of treatment or a cure for the condition, but doctors help patients by lessening the effects of the various manifestations or signs or complications of the syndrome, like cirrhosis of the liver or lymph-edema.  Individual cases differ, but symptoms are usually more prominent during infancy, and then come and go in episodes throughout a patient’s life.

Aagenaes syndrome is a rare genetic disease that is present from birth onwards, and generally shows signs soon after birth. Thereafter, symptoms such as swelling of the legs and jaundice will appear during infancy and may progress or come and go throughout the patient’s life. The condition is an inherited one, with exact causes still unknown. Although there isn’t a cure for the syndrome, doctors help patients by lessening the effects of the various manifestations that show up. The condition is based on a lymphatic disorder and blocked lymphatic system.

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