Analbuminemia

= = Analbuminemia == Analbuminemia is a rare genetic disorder characterized by the absence or severe reduction of serum albumin, a protein that is normally abundant in the blood plasma. This condition can lead to a variety of symptoms and complications due to the critical role albumin plays in maintaining oncotic pressure and transporting various substances in the bloodstream.

Etiology

Analbuminemia is caused by mutations in the ALB gene, which encodes the albumin protein. These mutations can lead to the production of a non-functional albumin protein or the complete absence of albumin production. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two defective copies of the ALB gene to manifest the disease.

Pathophysiology

Albumin is the most abundant protein in human plasma and plays a crucial role in maintaining the oncotic pressure necessary for proper distribution of body fluids between body tissues and the bloodstream. It also serves as a carrier protein for hormones, vitamins, and drugs. In analbuminemia, the lack of albumin disrupts these functions, leading to symptoms such as edema, fatigue, and potential complications related to the transport of substances in the blood.

Clinical Presentation

Individuals with analbuminemia may present with mild to moderate edema, fatigue, and hypotension. Despite the absence of albumin, many patients have relatively mild symptoms due to compensatory mechanisms, such as increased production of other plasma proteins. However, some individuals may experience more severe complications, including hyperlipidemia and increased susceptibility to infections.

Diagnosis

Diagnosis of analbuminemia is typically made through blood tests that reveal low or undetectable levels of serum albumin. Genetic testing can confirm the diagnosis by identifying mutations in the ALB gene.

Management

There is no specific treatment for analbuminemia, but management focuses on alleviating symptoms and preventing complications. This may include dietary modifications, use of diuretics to manage edema, and monitoring for potential complications such as hyperlipidemia. In some cases, albumin replacement therapy may be considered.

Prognosis

The prognosis for individuals with analbuminemia varies. Many individuals lead relatively normal lives with appropriate management, although they may require ongoing medical supervision to monitor and address potential complications.

Research and Future Directions

Research into analbuminemia is ongoing, with studies focusing on better understanding the genetic basis of the disorder and exploring potential therapeutic approaches. Gene therapy and other novel treatments may offer hope for more effective management in the future.

See Also

• Hypoalbuminemia
• ALB gene
• Plasma proteins

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NIH genetic and rare disease info

• NIH info on Analbuminemia

Analbuminemia is a rare disease.