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Congenital Analbuminemia

Last updated May 7, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Congenital Analbuminemia (CAA) is a rare disorder characterized by the absence or very low levels of human serum albumin (HSA).

What are the other Names for this Condition? (Also known as/Synonyms)

  • Analbuminemia
  • CAA (Congenital Analbuminemia)

What is Congenital Analbuminemia? (Definition/Background Information)

  • Congenital Analbuminemia (CAA) is a rare disorder characterized by the absence or very low levels of human serum albumin (HSA)
  • Although albumin is the most abundant plasma protein and has many functions, patients with CAA present with only a few mild clinical signs, such as fatigue, low blood pressure, and swelling (edema). However, CAA patients may loss fat tissue (lipodystrophy)   and present with high cholesterol, which may result in early atherosclerosis and heart problems
  • Rarely, CAA may be complicated by hypercoagulability (when the blood tends to clot too much), osteoporosis (which causes bones to become weak and brittle) and respiratory tract infections. It is more severe in the fetus or during early infancy
  • Congenital Analbuminemia is caused by mutations in the ALB gene. Inheritance is autosomal recessive
  • Treatment aims to prevent heart and vascular problems and may include statins and periodic albumin infusions

(Source: Congenital Analbuminemia; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Congenital Analbuminemia? (Age and Sex Distribution)

  • Congenital Analbuminemia is a rare congenital disorder, with less than 50 cases reported in the scientific literature
  • The presentation of symptoms may occur at birth or infancy
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Congenital Analbuminemia? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Congenital Analbuminemia can be inherited
  • Children born to consanguineous parents may bear an increased risk for the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Analbuminemia? (Etiology)

  • Congenital Analbuminemia is caused by mutations(s) in the ALB gene
  • This gene codes for the human serum albumin or HAS
  • The condition is inherited in an autosomal recessive manner

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Congenital Analbuminemia?

The signs and symptoms of Congenital Analbuminemia may vary among affected individuals in type and severity, and include the following:

  • Fatigue
  • Hyperlipidemia
  • Hypoalbuminemia
  • Hypotension
  • Lipodystrophy

(Source: Congenital Analbuminemia; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Congenital Analbuminemia Diagnosed?

Congenital Analbuminemia is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary
  • Molecular genetic testing to check for or confirm mutations in the ALB gene

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Analbuminemia?

The complications of Congenital Analbuminemia may include:

  • Extreme lipodystrophy
  • Osteoporosis
  • Abnormal functioning of the heart due to atherosclerosis
  • Miscarriage, if the condition affects the developing fetus

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Congenital Analbuminemia Treated?

There is no cure for Congenital Analbuminemia, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops. The treatments may include:

  • Replacement of albumin periodically
  • Prescription for statins, which may help normalize heart function

How can Congenital Analbuminemia be Prevented?

Congenital Analbuminemia may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Congenital Analbuminemia? (Outcomes/Resolutions)

  • The prognosis of Congenital Analbuminemia is dependent upon the severity of the signs and symptoms and associated complications, if any
  • The condition is most severe in the fetal, neonatal and infancy stages of an individual’s life, with possible fatalities
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Congenital Analbuminemia:

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 7, 2018
Last updated: May 7, 2018