Congenital Partial Lipodystrophy Type 1 Dunningam Syndrome

This LD variety was first described by Dunningam in 1974 [32] in females belonging to two families in Scotland. An autosomal dominant transmission of the disease was reported in five families. To date, some 200 cases of the disease have been reported, with a higher prevalence in females.

Atrophy of the subcutaneous fat layer usually manifests at puberty, involving the arms, legs, and buttocks. The subcutaneous adipose tissue of the face, neck, and intra-abdominal area may be preserved, giving patients a silhouette of visceral obesity. An increase in intramuscular fat has been reported. Insulin resistance, reduced glucose tolerance, overt diabetes, hypertriglyceridaemia, and low levels of HDL cholesterol are associated with Dunningam syndrome and lead to early onset of atherosclerotic vascular diseases. Acute pancreatitis and liver steatosis may complicate the clinical picture. The identification of missense mutations on chromosome 1q 21-22, involving genes encoding lamins A and C, in affected members of a family suggests the molecular basis of the disease [33]. Lamins provide structural integrity to the nuclear membrane, such that mutations in the

Table 3. Main clinical aspects of four patients with congenital lipoatrophic generalised lipodystrophy

DMM

GF

GI

TV

Sex

F

F

F

F

Age (years)

18

35

31

24

BMI

22.0

21.6

22.2

15.5

Glucose tolerance

Diabetes

Diabetes

Reduced glucose tolerance

Diabetes

Blood glucose

335

168

106

165

Plasma insulin

28

20

16

37

Total cholesterol

415

154

158

250

HDL cholesterol

18

30

35

24

Triglycerides

471

201

270

310

Uric acid

9.3

5.4

5.8

6.8

Lipoatrophy

++ +

++ -

++ -

+++

Resting energy expenditure

+ 28%

+ 14%

+ 18%

+ 16%

Muscle hypertrophy

++ +

+--

++ +

---

Liver steatosis

++ +

+--

+ + -

+--

Bone cysts

++ +

++-

+--

---

GF and GI: sisters. DMM: cousin of GF and GI. The father of GF and GI and the mother of DMM are cousins

GF and GI: sisters. DMM: cousin of GF and GI. The father of GF and GI and the mother of DMM are cousins gene could result in disruption of the nuclear lamina in adipocytes and subsequently cell death. The Dunningam's variety of familial partial LD seems to be a heterogeneous disorder with a slightly different clinical expression. The site of missense mutations could explain these differences. A variety of this congenital LD was described by Kobberling in 1975 [34].

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