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Analbuminemia

Congenital Analbuminemia

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.


Presentation

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
  • Contrary to expectations, the large majority of analbuminemic subjects appear clinically well, the only consistent finding being a slight tendency to develop ankle edema. Asthenia and moderate hypotension have been recorded in several cases.[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]
Headache
  • An episode of unconsciousness occurred during a march on July 26, 1969, followed by sever frontal headache, nausea and vomiting, and he was admitted to the Kure Kyosai Hospital on August 16, 1969.[jstage.jst.go.jp]

Workup

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]

Treatment

  • Management and treatment CAA is a relatively benign and tolerable condition. Management aims at prophylaxis and treatment of the possible cardiovascular complications related to hypercholesterolemia and atherosclerosis.[orpha.net]
  • Based on the above favourable results, long-term treatment with atorvastatin 40 mg was prescribed. Table 1 Changes in serum lipid profile during treatment with atorvastatin at increasing dosages.[wjgnet.com]
  • Lists the latest drugs used for the treatment of cardiopulmonary disorders. Includes information on laboratory medicine and pediatrics to help you apply cardiopulmonary principles to practice.[books.google.ro]
  • , and in some cases, due to treatment also.[dovemed.com]

Prognosis

  • (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[dovemed.com]
  • 28741271 ) Kitajima Y...Eguchi Y 2018 16 Proteinuria, Hypoalbuminemia, and Chronic Lymphocytic Leukemia: An Unusual Trio. ( 29568782 ) Wung W...Jonas BA 2018 17 Pre-operative core muscle index in combination with hypoalbuminemia is associated with poor prognosis[malacards.org]
  • Biochemistry consult to review the results. 21 Analbuminemia Albumin (Dye-binding) : 10 – 17 g/L Albumin (electrophoresis): 2 – 3 g/L Albumin (Immunoassay) : 22 Consistent with: Analbuminemia A genetic lack of albumin What is analbuminemia and what is the prognosis[slideplayer.com]
  • Prognosis: Excellent Ancillary treatments and support: Monitoring thyroid status Specialists and specialty centers: Endocrinologist, internist.[wohproject.org]

Etiology

  • HSA is either absent or present at very low levels ( Etiology The disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA ( ALB ; 4q13.3).[orpha.net]
  • (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[dovemed.com]

Epidemiology

  • Summary Epidemiology Prevalence has been estimated at approximately 1 case per million population, with less than 50 cases being reported in the literature so far. The disorder occurs with no geographic, sex or ethnic predilection.[orpha.net]
  • Epidemiological studies have found that the mean birth weight of First Nations infants is higher compared with other ethnicities and, therefore, we may have underestimated the proportion of cases born SGA, because growth percentiles were determined using[mymedicine4all.com]
  • […] anaerobic culture 嫌気培養 anaerobic infection 嫌気性感染 anaerobic threshold 無酸素性作業閾値 anal agenesis 肛門無形成 anal fissure 裂肛/痔裂 anal fistula 痔瘻 anal stage 肛門期 anal stenosis/stenosis of anus 肛門狭窄/肛門狭窄症 analbuminemia 無アルブミン血症 analgesia 痛覚脱出/痛覚消失 analgesic 鎮痛薬 analytic epidemiology[jpeds.or.jp]
Sex distribution
Age distribution

Pathophysiology

  • Clinical aspects, genetics and pathophysiology of this disease are discussed.[ncbi.nlm.nih.gov]
  • It integrates key concepts of pathophysiology, clinical manifestations, diagnostic tests and laboratory information and findings with clinically important medical and surgical interventions and pharmacologic therapies — then applies the material to physical[books.google.ro]
  • 1 Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova 16148, Italy 2 Praxis Kreuzmatte, Kreuzstrasse 2, Postfach, 3052 Zollikofen, Switzerland 3 Department of Nephrology/Hypertension, Inselspital, Bern University Hospital,[mdpi.com]

Prevention

  • Congenital Analbuminemia may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.ro]

References

Article

  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.
  5. 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.
  6. 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
  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.

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Last updated: 2019-07-11 22:16