Analbuminemia is a congenital, autosomal recessive disorder characterized by very low serum levels of albumin. The majority of patients, however, exhibit minimal manifestations such as hypotension, mild fatigue, and edema of the distal lower extremities. Severe hypercholesterolemia as a compensatory mechanism typically seen in the laboratory workup may predispose to an early onset of atherosclerosis and consequent cardiovascular diseases. Genetic testing is necessary to confirm mutations responsible for diminished concentrations of albumin.
Analbuminemia is an extremely rare congenital disease that denotes very low circulating levels of albumin (<1.0 g/L)  . As one of the main plasma proteins, involved in oncotic pressure regulation and in the transport of numerous compounds throughout the body, albumin is a highly important molecule for human body functioning  . However, virtually all patients develop only minimal symptoms as significant levels of lipoproteins (but also other classes of proteins) are secreted to compensate for albumin loss  . Excessive hypercholesterolemia predisposes patients suffering from this rare condition to atherosclerosis and cardiovascular diseases  . The main manifestations of analbuminemia are mild fatigue, edema around the ankles, and hypotension  . Notable complications that have been described are osteoporosis, development of hypercoagulable disorders, infections of the respiratory tract, intrauterine growth retardation, and fetal death . In fact, some authors claim that the very few cases of analbuminemia described in the literature are due to the underdiagnosis related to very early deaths from this condition .
Entire Body System
Patients lacking this serum protein are essentially asymptomatic, apart from minimal ankle edema and ease of fatigue. [ncbi.nlm.nih.gov]
No associated disease condition could be revealed in this patient, the only consistent finding being a slight tendency to develop ankle edema. Asthenia and a moderate hypotension were also recorded. [onlinelibrary.wiley.com]
Liver, Gall & Pancreas
Asthenia and moderate hypotension have been recorded in several cases. Although associated disease conditions have been described in isolated instances, no clear-cut connections have been established with the analbuminemic state. [ncbi.nlm.nih.gov]
Asthenia and a moderate hypotension were also recorded. Trace amounts (5.2 mg/100 ml) of serum albumin were determined by immunochemical methods. [onlinelibrary.wiley.com]
The very rare occurrence of analbuminemia (only 50 cases have been reported in the literature and an incidence rate of < 1 in 1 million individuals was established) and the nonspecific, generally benign symptomatology must not mislead the physician from taking a detailed patient history and conducting a thorough physical examination . A presumptive diagnosis can be made after laboratory studies that confirm profoundly low levels (< 1.0 g/L) of albumin in the serum but with normal liver function (coagulation panel and serum transaminases within physiological limits) and exclusion of albumin loss through the kidneys or the gastrointestinal tract     . Since certain molecules are usually bound to albumin at the time of testing (such as calcium and thyroxine), a true diagnosis may be delayed or missed for a significant period of time because of misleading laboratory results   . For this reason, more advanced studies, including molecular analysis to detect gene mutations located on chromosome 4, are necessary to solidify the diagnosis   . Because the disorder is transferred through an autosomal recessive pattern of inheritance   , a family history might provide important clues as well, making it a vital constituent of the diagnostic workup.
A similar mechanism could explain the dyslipidemia observed in other conditions associated with low albumin levels, such as nephrotic syndrome. [ncbi.nlm.nih.gov]
No corneal arcus or other signs of dyslipidemia were present. Our patient is the first case of congenital analbuminemia attributable to compound heterozygosity for 2 new mutations in the exons 10 and 11 of albumin gene[ 5 ]. [wjgnet.com]
Besides the above mentioned severe hypoalbuminemia and moderate hypoproteinemia, she exhibits moderate dyslipidemia, with a marked increase of the triglyceride concentration, whereas the concentration of total cholesterol, LDL-cholesterol and HDL-cholesterol [biochemia-medica.com]
Both siblings show low ALB concentration and low total protein concentration, despite a compensatory increment of all the globulin fractions, and gross hyperlipidaemia, with a marked increment of total and LDL-cholesterol and hypertriglyceridemia. [biochemia-medica.com]
- 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. 2013;1(1):44-48.
- Campagna F, Fioretti F, Burattin M, et al. Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. Clin Chem. 2005;51:1256–1258.
- Boldt J. Use of albumin: an update. Br J Anaesth. 2010;104:276–284.
- Dagnino M, Caridi G, Haenni U, et al. Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene. Int J Mol Sci. 2011;12(11):7314-7322.
- Wilkins TA, Midgley JE, Barron N. Comprehensive study of a thyroxin-analog-based assay for free thyroxin (“Amerlex FT4”). Clin Chem 1985;31:1644-1653.
- Lyon AW, Meinert P, Bruce GA, Laxda VA, Salkie ML. Influence of methodology on the detection and diagnosis of congenital analbuminemia. Clin Chem. 1998;44:2365-2367
- Koot BG, Houwen R, Pot DJ, Nauta J. Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. Eur J Pediatr. 2004;163:664-667
- Stockigt JR, Stevens V, White EL, Barlow JW. “Unbound analog” radioimmunoassays for free thyroxin measure the albumin-bound fraction. Clin Chem 1983;29:1408-1410
- Minghetti PP, Ruffner DE, Kuang WJ, et al. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J Biol Chem. 1986;261:6747–6757.