Analbuminaemia is a rare autosomal recessive disorder that is characterised by a severe reduction or total absence of serum albumin. There are fewer than 50 cases of this condition worldwide and the estimated prevalence is less than one in a million. Analbuminaemia is attributed to defects in the gene coding for albumin which is found on chromosome 4 [1]. Patients with this disorder may be asymptomatic, or may suffer from fatigue, lower limb oedema, hypotension, and disfiguring lipodystrophy affecting the lower limbs [2].
Albumin is the primary component of plasma protein and is vital in maintaining plasma colloid oncotic pressure which prevents systemic oedema. In the absence of albumin the human body compensates through the synthesis of immunoglobulins and other serum proteins - in particular apolipoprotein-B [3]. Patients subsequently have hypercholesterolaemia, with elevated plasma low density lipoprotein cholesterol (LDL cholesterol) levels and normal or reduced high density lipoprotein cholesterol (HDL cholesterol) levels. Whether these individuals are at risk of premature atherosclerosis and cardiovascular disease is controversial [2].
In addition, this condition has implications for therapeutics as a large proportion of commonly used drugs are protein bound, where the major component is albumin. Therefore there is the potential for the alteration of the pharmacokinetics of many common medications in an unpredictable way. Frolich et al. [4] have reported an increase in the unbound fraction of albumin-bound drugs of approximately ten-fold normal. However this was not substantiated by Demirsoy et al.[5] where there were no changes in the pharmacokinetics in perioperative drugs seen.
There have been no cases of pregnancy in a patient with analbuminaemia reported in the English language literature. This is a case report of the first pregnancy in a patient who was diagnosed with congenital analbuminaemia around 18 months prior. The management and unique challenges of pregnancy in a patient with congenital analbuminaemia are discussed.