Pregnancy in a patient with congenital analbuminaemia

Abstract

Congenital analbuminaemia is a rare autosomal recessive disorder that is characterised by a severe reduction or total absence of serum albumin. This condition has implications for therapeutics as a large proportion of commonly used drugs are plasma protein bound where albumin is the primary component of plasma protein. This is the first case report of pregnancy in a patient with congenital analbuminaemia in the medical literature. In the absence of drug dosage guidelines for patients with congenital analbuminaemia, a list of drugs which may be required for this patient during pregnancy, delivery and/or emergency situations were compiled by a multidisciplinary team. Our patient suffered from polyhydramnios during her pregnancy which was successfully managed with albumin transfusions and had a normal vaginal delivery with no complications in the intrapartum or postpartum period. The management and unique challenges of pregnancy in a patient with congenital analbuminaemia are discussed.

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

“…However, other medications can also be relevant, and many of the commonly used drugs are highly albumin-bound. The unbound fraction of this type of drugs is usually higher than expected; for example, 10-fold increases in the free fractions of warfarin and diazepam have been reported (Hu et al, 2017). Therefore, albumin-binding drugs should be used with caution and monitored carefully, mainly because of earlier onset of side-effects and toxicity.…”

“…The website also mentions three examples of parenting of children. In this connection, it is relevant to note that Hu et al (2017) have followed a 24-year-old pregnant woman with CAA of the Kayseri defect, see below. The female has had one previous miscarriage, she was overweight with oedema and lipodystrophy but was otherwise in good health.…”

“…In addition, ALB preparations for clinical use are still isolated from human blood and therefore could contain infectious agents. However, albumin therapy for a shorter period can be relevant, for example during pregnancy (Hu et al, 2017) or in connection with surgery (Demirsoy et al, 2011).…”

Liposuction for congenital analbuminaemia

“…Only 70 cases of analbuminaemia have been reported in the literature (prevalence estimated to be one in a million), with this patient being the only case ever reported in Australia 3,4 . Due to the rarity of the condition, there is a paucity of literature regarding analbuminaemia and the surgical management of lipodystrophy.…”

“…Only 70 cases of analbuminaemia have been reported in the literature (prevalence estimated to be one in a million), with this patient being the only case ever reported in Australia. 3,4 Due to the rarity of the condition, there is a paucity of literature regarding analbuminaemia and the surgical management of lipodystrophy. The nature of the relationship between albumin and lipodystrophy is unclear: while adipose tissue was once considered a passive organ for excess energy storage, current understanding has redefined it as an endocrine organ with a significant role in maintaining homeostatic balance.…”