Metrics details. Dunnigan syndrome is characterized by a partial atrophy of the subcutaneous adipose tissue and by an insulin resistance syndrome, associated with a risk of metabolic, cardiovascular and muscular complications. Thorough clinical examination is key to diagnosis. Biochemical testing frequently shows hyperinsulinemia, abnormal glucose tolerance and hypertriglyceridemia. Elevated hepatic transaminases hepatic steatosis and creatine phosphokinase, and hyperandrogenism in women, are common.
Molecular analysis of the LMNA gene confirms diagnosis and allows for family investigations. Regular screening and multidisciplinary monitoring of the associated complications are necessary. Diabetes frequently develops from puberty onwards. Hypertriglyceridemia may lead to acute pancreatitis. Early atherosclerosis and cardiomyopathy should be monitored. In women, polycystic ovary syndrome is common. Overall, the management of patients with Dunnigan syndrome requires the collaboration of several health care providers.
The attending physician, in conjunction with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are described to provide such a support. The most common genetic variant responsible for FPLD2 results in a substitution of the Arg amino acid at position An overlap between these clinical forms is possible. Clinical description The clinical examination, including a physical examination in underwear, is key for diagnosis.
This can be done by a general practitioner. The onset of lipodystrophy abnormalities in adipose tissue distribution is usually at puberty and is often more pronounced in women than in men [ 3 , 4 ]. Therefore, a physician may more easily reach diagnosis in a female index case. This dysmorphic condition is associated with atrophy of subcutaneous adipose tissue of the limbs and trunk lipoatrophy with an accumulation of adipose tissue in the face, neck and intra-abdominal region, as well as in axillary and pubic regions.
The subcutaneous lipoatrophy reveals apparent veins and accentuates muscle mass e. At the peri-humeral level, when arms are extended crosswise, it reveals a hatchet deformity of the bicipital mass. The general morphotype is pseudo-athletic with broad shoulders. The BMI is usually normal. Acanthosis nigricans is common. Biological Biochemical testing reveals hypertriglyceridemia, low HDL-cholesterol, hyperinsulinemia, glucose intolerance or diabetes, increased transaminases hepatic steatosis , CPK can sometimes be elevated muscle damage and leptin adipose tissue hormone levels are low leptinemia.
