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Congenital analbuminemia


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Other Names:
Analbuminemia; ANALBA
Categories:
Blood Diseases; Congenital and Genetic Diseases

Summary Summary


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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.[1][1134] CAA is caused by mutations in the ALB gene.[1] Inheritance is autosomal recessive. Treatment aims to prevent heart and vascular problems and may include statins and periodic albumin infusions.[2]
Last updated: 6/21/2016

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 21 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hypoalbuminemia
Low blood albumin
0003073
30%-79% of people have these symptoms
Fatigue
Tired
Tiredness
[ more ]
0012378
Hypercholesterolemia
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ]
0003124
Hyperlipidemia
Elevated lipids in blood
0003077
Hypoproteinemia
Decreased protein levels in blood
0003075
Increased alpha-globulin 0005413
Increased circulating antibody level 0010702
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
0010741
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ]
0001622
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ]
0001518
5%-29% of people have these symptoms
Facial edema
Facial puffiness
Facial swelling
[ more ]
0000282
Low pulse pressure 0030851
Mild global developmental delay 0011342
Obesity
Having too much body fat
0001513
Oligohydramnios
Low levels of amniotic fluid
0001562
Recurrent lower respiratory tract infections
Recurrent chest infections
0002783
Spontaneous abortion 0005268
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Hypotension
Low blood pressure
0002615
Osteoporosis 0000939
Showing of 21 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis should include a wide number of pathological conditions that present with reduction of HSA (glomerulonephritis, nephrosis, ascites, systemic lupus erythematosus, intestinal lymphangiectasia, and protein-losing enteropathies; see these terms).
Visit the Orphanet disease page for more information.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Analbuminemia. OMIM. 2014; http://omim.org/entry/616000.
  2. Del Ben M, Angelico F, Loffredo L & Violi F. Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. World J Clin Cases. April, 2013; 1(1):44-8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3845927/.
  3. Congenital analbuminemia. Orphanet. 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86816.
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