Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2014) 35 P302 | DOI: 10.1530/endoabs.35.P302

ECE2014 Poster Presentations Clinical case reports Thyroid/Others (72 abstracts)

An unusual case of diabetes mellitus as a result of heterozygous missense mutation R482W in LMNA gene (familial partial lipodystrophy type 2), described for the first time in Russian population

Ekaterina Sorkina 1 , Anatoly Tiulpakov 2 , Marina Kalashnikova 1 & Galina Melnichenko 1,

1I.M. Sechenov First Moscow State University, Moscow, Russia; 2Endocrinology Research Center, Moscow, Russia.

Background: Familial partial lipodystrophy type 2 (Dunnigan syndrome and FPLD2) is a rare genetic disorder, associated with different metabolic abnormalities, especially insulin resistant diabetes mellitus, dyslipidaemia, hepatic steatosis, and cirrhosis, cardiovascular disease, and cardiomyopathy, kidney disease.

Clinical case: A 20-year-old patient first presented with changed appearance due to abnormal subcutaneous fat tissue redistribution (lipodystrophies in limbs and abdomen and lipohypertrophies of face and neck), acanthosis nigricans, history of diabetes mellitus since the age of 18, with significant insulin resistance (insulin daily dosage up to 200 U and combined therapy with no effect). Despite different therapeutic strategies, glycemic control was poor: HbA1c 15.4% (individual target level is 5.5%), glycemic levels during the day 13.0–25.0 mmol/l (individual target levels are 5.0–7.0); ALAT 222 U/l (10–40), ASAT 149 U/l (10–40), total cholesterol 452–mg/dl (<175), triglycerides 953 mg/dl (<150), LDL 222–mg/dl (<100), HDL 40 mg/dl (>48), immunoreactive insulin 49 mcm/ml (5–25), leptin 6.4 ng/ml (3.7–11.1). In US scan there were signs of hepatic steatosis, hepatomegaly, and splenomegaly. Hypercorticism and acromegaly were excluded. All those clinical signs and family history of specific changed appearance, diabetes and PCOS in many women (aunts, cousins) in patient’s family led us to the clinical diagnosis of FPLD2, which was confirmed genetically by sequencing of LMNA gene and revealing heterozygous missense mutation R482W, previously described in FPLD2 (1). As previous symptomatic combined hypoglycemic and hypolipidemic treatment showed not enough efficiency, we now plan to start metreleptin therapy, recently approved for inherited lipodystrophies treatment by FDA, as soon as it will be registered in Russian Federation.

Conclusion: Poorly controlled and difficult to manage diabetes mellitus especially in young age may be a result of a rare inherited condition. This is the first family with FPLD2 due to LMNA mutation described in Russian population, which provides a key for further studies of this pathology in Russian Federation.

(1) Shackleton S. 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genet. 24 153–156.

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