Analbuminemia is an extremely rare congenital disease that denotes very low circulating levels of albumin (<1.0 g/L) [1] [2]. 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 [1] [3]. 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 [1] [4]. Excessive hypercholesterolemia predisposes patients suffering from this rare condition to atherosclerosis and cardiovascular diseases [1] [4]. The main manifestations of analbuminemia are mild fatigue, edema around the ankles, and hypotension [1] [2]. Notable complications that have been described are osteoporosis, development of hypercoagulable disorders, infections of the respiratory tract, intrauterine growth retardation, and fetal death [5]. 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 [4].

• Ankle Edema

  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]

• Respiratory Insufficiency

  Clinical examination was normal except for respiratory insufficiency which was managed by nasal continuous positive airway pressure for only four hours. [biochemia-medica.com]

• Liver Dysfunction

  We report here a new case diagnosed in a 45 years old man of Southwestern Asian origin, living in Switzerland, on the basis of his low ALB concentration (0.9 g/L) in the absence of renal or gastrointestinal protein loss, or liver dysfunction. [ncbi.nlm.nih.gov]

• Suggestibility

  The data suggest that analbuminemia is the result of widely scattered random mutations. [ncbi.nlm.nih.gov]

• Asthenia

  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 [1]. 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 [1] [2] [4] [6] [7]. 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 [1] [4] [8]. For this reason, more advanced studies, including molecular analysis to detect gene mutations located on chromosome 4, are necessary to solidify the diagnosis [1] [2] [9]. Because the disorder is transferred through an autosomal recessive pattern of inheritance [1] [2] [7], a family history might provide important clues as well, making it a vital constituent of the diagnostic workup.

• Dyslipidemia

  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]

• Hypertriglyceridemia

  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]

1. 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.
2. 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.
3. Boldt J. Use of albumin: an update. Br J Anaesth. 2010;104:276–284.
4. 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.
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7. 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
8. 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
9. 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.