Congenital analbuminaemia diagnosed in adulthood in an Australian family

Analbuminaemia: clinical features and associated hypercholesterolaemia

“…[2][3][4][5][6] At the other end of the clinical spectrum of severity, intrauterine death may occur with analbuminaemia, and in neonates the clinical course is far more severe, with marked oedema and even death, thus illustrating the major biological role albumin plays in the pre-and perinatal period. [11][12][13][14][15] In less severe presentations, the near-absence of serum albumin results in compensatory increases, e.g. apolipoproteins along with vascular and circulatory adaptations, which may help to explain the relative lack of serious clinical sequelae in adult life.…”

“…Other compensatory increases are seen in immunoglobulins, sex hormone-binding globulin, thyroidbinding globulin, transferrin, fibrinogen, haptoglobin, prealbumin, complement, alpha-fetoprotein and ceruloplasmin. [11][12][13][14][15] Waldmann et al 16 noted that albumin infusions in analbuminaemic patients help to reverse the abnormal lipid features. Interestingly, in another study, the cholesterol-lowering drug atorvastatin was associated with a decrease in oncotic pressure, due to reduced compensatory hypercholesterolaemia and severe lower limb oedema.…”

Pregnancy in a patient with congenital analbuminaemia

“…We report the management and outcome of a pregnancy in an Australian patient with congenital analbuminaemia, whose condition was first reported in 2015 1. Congenital analbuminaemia is extremely rare, with about 70 cases described worldwide, and an estimated prevalence of less than one in a million 1.…”

“…Congenital analbuminaemia is extremely rare, with about 70 cases described worldwide, and an estimated prevalence of less than one in a million 1. Despite its rarity, lessons from managing this disorder in pregnancy may also apply to management of individuals with severe hypoalbuminaemia due to other causes.…”

“…Heterozygotes exhibit a mildly reduced serum albumin (33–34 g/L) 1. Twenty-two different mutations of the albumin gene have been identified so far1 including mutations that cause non-sense mutations or splicing defects4 5 with about one-third of individuals affected estimated to have the Kayseri mutation 6…”