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Metabolic syndrome in a teenager as a clinical picture of R482W LMNA mutation
Metabolic Syndrome (MS) can be diagnosed from the age of
10 years, when the coexistence of abdominal obesity, glucose
metabolism disorders, dyslipidemia, and hypertension is
observed. A binding part of MS is insulin resistance. Severe
insulin resistance may be caused by a mutation in lamin
(LMNA) gene. A teenager with MS due to mutation in
LMNA gene is presented.
A 17.5-yr-old Caucasian girl was admitted to the hospital
with the suspicion of diabetes mellitus due to causal blood
glucose 393 mg/dl (21.8 mmol/l), without typical diabetic
symptoms. Since the age of 13 years she had been presented
with excessive weight gain, hirsutism, and oligomenorrhoea.
Her family history was positive for diabetes and partial
lipodystrophy in three generations. Physical examination
revealed abdominal obesity (waist-circumference 86 cm,
BMI 27 kg/m2), android/cushingoidal habitus, acanthosis
nigricans in axillae and neck, hirsutism, enlarged liver, and
pseudohypertrophy of muscles of limbs with partial
lipodystrophy. Based on oral glucose tolerance test diabetes
was diagnosed (HOMA-IR 14). HbA1c was 9.2% (78
mmol/mol). Diabetes autoantibodies were negative. Lab tests
revealed also dyslipidemia (total cholesterol 6.42 mmol/l,
triglicerydes 7.42 mmol/l, HDL cholesterol 0.73 mmol/l) and
elevated liver enzymes. Ultrasonography revealed steatosis hepatis and polycystic ovaries. Genetic tests confirmed
that she is a carrier of heterozygous missense mutation
(c.1444C>T; R482W) in the LMNA gene. Lifestyle
changes, metformin dosage 500 mg three times a day and
ursodeoxycholic acid were introduced as her therapy. After
4 months of this treatment HbA1c levels dropped 5.8% (40
mmol/mol). Moreover an improvement of lipid profile,
liver tests and 2 kg body weight loss were observed.
Diabetes mellitus as a component of MS in a young obese
patient should be diagnosed individually. When other nontypical for diabetes mellitus clinical signs and symptoms
exist with positive, multigenerational family history,
genetic causes of MS should be taken into consideration