Analbuminaemia

Analbuminaemia is a rare, inherited disorder characterized by the absence of albumin in the blood. Albumin is the most abundant protein in human blood and it plays an important role in maintaining the osmotic pressure that allows the body to properly distribute its body fluids.

Causes

Analbuminaemia is caused by a variety of mutations in the ALB gene. This gene provides instructions for making albumin. Mutations in the ALB gene prevent the body from producing albumin, leading to the symptoms of analbuminaemia.

Symptoms

The symptoms of analbuminaemia can vary greatly from person to person. Some people with this condition may have no symptoms, while others may experience:

• Edema (swelling caused by excess fluid trapped in the body's tissues)
• Fatigue
• Muscle cramps
• Breathlessness

Diagnosis

Analbuminaemia is typically diagnosed through blood tests that measure the level of albumin in the body. Genetic testing can also be used to identify mutations in the ALB gene.

Treatment

There is currently no cure for analbuminaemia. Treatment is aimed at managing the symptoms and may include:

• Dietary modifications
• Medications to control symptoms such as edema
• Regular monitoring of albumin levels

See also

• ALB gene
• Albumin
• Edema
• Genetic testing

References

Analbuminaemia Resources
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