Analbuminaemia

A rare genetic disorder affecting albumin production

Analbuminaemia

Diagram of autosomal recessive inheritance

Analbuminaemia is a rare genetic disorder characterized by the absence or severe reduction of serum albumin in the blood. Albumin is a major protein produced by the liver and plays a crucial role in maintaining the oncotic pressure of the blood, as well as in the transport of various substances such as hormones, vitamins, and drugs.

Genetics

Analbuminaemia is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to manifest the disorder. The gene responsible for this condition is located on chromosome 4 and is known as the albumin (ALB) gene. Mutations in the ALB gene lead to the production of non-functional or absent albumin.

Pathophysiology

The lack of albumin in the blood leads to a variety of physiological disturbances. Albumin is essential for maintaining the colloid osmotic pressure of the blood, which helps to keep fluid within the blood vessels. Without sufficient albumin, fluid can leak into the surrounding tissues, leading to edema. Additionally, albumin serves as a carrier protein for various endogenous and exogenous substances, and its absence can affect the distribution and metabolism of these substances.

Clinical Features

Individuals with analbuminaemia may present with mild to moderate edema, hypotension, and fatigue. Despite the absence of albumin, many individuals with this condition are asymptomatic or have only mild symptoms, as other proteins in the blood can partially compensate for the lack of albumin.

Diagnosis

The diagnosis of analbuminaemia is typically made through laboratory tests that measure the levels of albumin in the blood. Genetic testing can confirm the diagnosis by identifying mutations in the ALB gene.

Management

There is no specific treatment for analbuminaemia. Management focuses on addressing symptoms and preventing complications. This may include dietary modifications, the use of diuretics to manage edema, and careful monitoring of drug levels due to altered pharmacokinetics.

Prognosis

The prognosis for individuals with analbuminaemia is generally good, as many affected individuals lead normal lives with minimal symptoms. However, they may be at increased risk for certain complications, such as infections or cardiovascular issues, due to the altered distribution of substances in the blood.

Related pages

• Albumin
• Genetic disorder
• Autosomal recessive
• Edema