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Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report.

Belo SP, Magalhães ÂC, Freitas P, Carvalho DM - BMC Res Notes (2015)

Bottom Line: A physical examination revealed that she presented a loss of fat from the extremities and trunk and also had an excess of subcutaneous fat in the chin.Dunnigan lipodystrophy was suspected and thus a genetic study was requested, which revealed the presence of c.1444C > T (p.Arg482Trp) heterozygote mutation in the lamin A/C gene.This case is used to illustrate the importance of being able to recognise the clinical signs of this rare lipodystrophic syndrome, which may cause potentially severe consequences, and also the difficulties in treating it during pregnancy.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Diabetes and Metabolism of the Centro Hospitalar de São João, Porto, Portugal. sandra.belo@gmail.com.

ABSTRACT

Background: Familial partial lipodystrophy, Dunnigan variety, is a recognised autosomal dominant disorder which is caused by heterozygous missense mutations in the lamin A/C gene. Dunnigan lipodystrophy is characterised by a variable loss of fat from the extremities and trunk, as well as an excess of subcutaneous fat in the chin and supraclavicular area. The associated metabolic abnormalities include: insulin resistance, diabetes, dyslipidaemia and low leptin levels.

Case presentation: The authors studied the case of a 24-year-old caucasian pregnant woman, with a past medical history of acute pancreatitis, combined dyslipidaemia and diabetes mellitus. At 7 weeks of pregnancy she was referred to the outpatient endocrinology and obstetrics clinic for diabetes care. A physical examination revealed that she presented a loss of fat from the extremities and trunk and also had an excess of subcutaneous fat in the chin. Triglyceride levels were persistently high, and glycaemic control was only achieved through the administration of high doses of insulin (1.8 U/Kg/day). Dunnigan lipodystrophy was suspected and thus a genetic study was requested, which revealed the presence of c.1444C > T (p.Arg482Trp) heterozygote mutation in the lamin A/C gene.

Conclusion: This case is used to illustrate the importance of being able to recognise the clinical signs of this rare lipodystrophic syndrome, which may cause potentially severe consequences, and also the difficulties in treating it during pregnancy.

No MeSH data available.


Related in: MedlinePlus

a and b Loss of adipose tissue from the extremities and the trunk.
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Fig1: a and b Loss of adipose tissue from the extremities and the trunk.

Mentions: At 7 weeks of pregnancy, she was referred to the outpatient endocrinology and obstetrics clinic, in the context of her diabetes. A physical examination revealed that she presented loss of fat from the extremities and trunk (Figure 1a; 1b), excess of subcutaneous fat in the chin, and apparent muscle hypertrophy (Figure 2). According to the patient, these features had been present since early adolescence. No other typical clinical features were observed during the physical examination, namely hirsutism or acanthosis nigricans. As previously noted, the therapy for diabetes was insulin, with an initial total dose of 106 U/day (1.8 U/Kg/day). The patient was also treated with heparin and salmon oil. Statin, niacinic acid and fenofibrate treatment had already been suspended at the time pregnancy was confirmed. She presented good glycaemic control (HbA1c 4.7%, without hypoglycaemia) and triglyceride levels of 1566 mg/dL (reference value <150 mg/dL), and so was prescribed treatment with gemfibrozil 600 mg, twice a day. Considering her past medical history, and the clinical and biochemical characteristics, Dunnigan lipodystrophy was suspected, and a genetic study for mutations of lamin A/C was requested. The presence of exon 8 c.1444C > T (p.Arg482Trp) heterozygote mutation in the LMNA gene was revealed. No other genes were sequenced.Figure 1


Familial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report.

Belo SP, Magalhães ÂC, Freitas P, Carvalho DM - BMC Res Notes (2015)

a and b Loss of adipose tissue from the extremities and the trunk.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4403845&req=5

Fig1: a and b Loss of adipose tissue from the extremities and the trunk.
Mentions: At 7 weeks of pregnancy, she was referred to the outpatient endocrinology and obstetrics clinic, in the context of her diabetes. A physical examination revealed that she presented loss of fat from the extremities and trunk (Figure 1a; 1b), excess of subcutaneous fat in the chin, and apparent muscle hypertrophy (Figure 2). According to the patient, these features had been present since early adolescence. No other typical clinical features were observed during the physical examination, namely hirsutism or acanthosis nigricans. As previously noted, the therapy for diabetes was insulin, with an initial total dose of 106 U/day (1.8 U/Kg/day). The patient was also treated with heparin and salmon oil. Statin, niacinic acid and fenofibrate treatment had already been suspended at the time pregnancy was confirmed. She presented good glycaemic control (HbA1c 4.7%, without hypoglycaemia) and triglyceride levels of 1566 mg/dL (reference value <150 mg/dL), and so was prescribed treatment with gemfibrozil 600 mg, twice a day. Considering her past medical history, and the clinical and biochemical characteristics, Dunnigan lipodystrophy was suspected, and a genetic study for mutations of lamin A/C was requested. The presence of exon 8 c.1444C > T (p.Arg482Trp) heterozygote mutation in the LMNA gene was revealed. No other genes were sequenced.Figure 1

Bottom Line: A physical examination revealed that she presented a loss of fat from the extremities and trunk and also had an excess of subcutaneous fat in the chin.Dunnigan lipodystrophy was suspected and thus a genetic study was requested, which revealed the presence of c.1444C > T (p.Arg482Trp) heterozygote mutation in the lamin A/C gene.This case is used to illustrate the importance of being able to recognise the clinical signs of this rare lipodystrophic syndrome, which may cause potentially severe consequences, and also the difficulties in treating it during pregnancy.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Diabetes and Metabolism of the Centro Hospitalar de São João, Porto, Portugal. sandra.belo@gmail.com.

ABSTRACT

Background: Familial partial lipodystrophy, Dunnigan variety, is a recognised autosomal dominant disorder which is caused by heterozygous missense mutations in the lamin A/C gene. Dunnigan lipodystrophy is characterised by a variable loss of fat from the extremities and trunk, as well as an excess of subcutaneous fat in the chin and supraclavicular area. The associated metabolic abnormalities include: insulin resistance, diabetes, dyslipidaemia and low leptin levels.

Case presentation: The authors studied the case of a 24-year-old caucasian pregnant woman, with a past medical history of acute pancreatitis, combined dyslipidaemia and diabetes mellitus. At 7 weeks of pregnancy she was referred to the outpatient endocrinology and obstetrics clinic for diabetes care. A physical examination revealed that she presented a loss of fat from the extremities and trunk and also had an excess of subcutaneous fat in the chin. Triglyceride levels were persistently high, and glycaemic control was only achieved through the administration of high doses of insulin (1.8 U/Kg/day). Dunnigan lipodystrophy was suspected and thus a genetic study was requested, which revealed the presence of c.1444C > T (p.Arg482Trp) heterozygote mutation in the lamin A/C gene.

Conclusion: This case is used to illustrate the importance of being able to recognise the clinical signs of this rare lipodystrophic syndrome, which may cause potentially severe consequences, and also the difficulties in treating it during pregnancy.

No MeSH data available.


Related in: MedlinePlus