Liposuction for lower limb lipodystrophy in congenital analbuminaemia: A case report

Kandamany, Nanda; Munnoch, Alex

doi:10.1016/j.bjps.2013.09.001

Cited by 6 publications

(7 citation statements)

References 7 publications

(7 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Some adult patients, especially females, develop a peculiar lower body lipodystrophy, often with abnormal body habitus (Peters, 1996; Minchiotti et al, 2013). In extreme cases the lipodystrophy requires leg liposuction and controlled compression therapy (Kandamany and Munnoch, 2014). Somewhat surprisingly, the risk of osteoporosis seems to be increased.…”

Section: Consequences Of Caamentioning

confidence: 99%

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

et al. 2019

View full text Add to dashboard Cite

Congenital analbuminemia (CAA) is an inherited, autosomal recessive disorder with an incidence of 1:1,000,000 live birth. Affected individuals have a strongly decreased concentration, or complete absence, of serum albumin. The trait is usually detected by serum protein electrophoresis and immunochemistry techniques. However, due to the existence of other conditions in which the albumin concentrations are very low or null, analysis of the albumin ( ALB ) gene is necessary for the molecular diagnosis. CAA can lead to serious consequences in the prenatal period, because it can cause miscarriages and preterm birth, which often is due to oligohydramnios and placental abnormalities. Neonatally and in early childhood the trait is a risk factor that can lead to death, mainly from fluid retention and infections in the lower respiratory tract. By contrast, CAA is better tolerated in adulthood. Clinically, in addition to the low level of albumin, the patients almost always have hyperlipidemia, but they usually also have mild oedema, reduced blood pressure and fatigue. The fairly mild symptoms in adulthood are due to compensatory increment of other plasma proteins. The condition is rare; clinically, only about 90 cases have been detected worldwide. Among these, 53 have been studied by sequence analysis of the ALB gene, allowing the identification of 27 different loss of function (LoF) pathogenic variants. These include a variant in the start codon, frame-shift/insertions, frame-shift/deletions, nonsense variants, and variants affecting splicing. Most are unique, peculiar for each affected family, but one, a frame-shift deletion called Kayseri, has been found to cause about one third of the known cases allowing to presume a founder effect. This review provides an overview of the literature about CAA, about supportive and additional physiological and pharmacological information obtained from albumin-deficient mouse and rat models and a complete and up-to-date dataset of the pathogenic variants identified in the ALB gene.

show abstract

Section: Consequences Of Caamentioning

confidence: 99%

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

et al. 2019

View full text Add to dashboard Cite

show abstract

“…[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.…”

mentioning

confidence: 99%

“…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.…”

mentioning

confidence: 99%

Analbuminaemia: clinical features and associated hypercholesterolaemia

Crook

2016

Ann Clin Biochem

View full text Add to dashboard Cite

“…4 Management options are limited 1 and scarce literature regarding liposuction in acquired partial lipodystrophy exists, though it has been used effectively in other lipodystrophy syndromes, albeit rarely. 5,6 Medical management and largevolume liposuction are effective in improving the metabolic profile of patients without lipodystrophy, as well as cosmesis and quality of life. 5,7,8 The removal of large volumes of fat via liposuction is not without potential complications, and postoperative medical management is complex.…”

Section: Introductionmentioning

confidence: 99%