Table 1 |.
Unique clinical features in CGL subtypes
| Complication | Type 1 CGL | Type 2 CGL | Type 3 CGL | Type 4 CGL |
|---|---|---|---|---|
| Adipose tissue | Absent metabolically active adipose tissue Preserved mechanical adipose tissue |
Absent metabolically active and mechanical adipose tissue | Absent metabolically active adipose tissue Preserved mechanical and bone marrow adipose tissue |
Absent metabolically active adipose tissue Preserved mechanical and bone marrow adipose tissue |
| Cardiovascular complications | N/A | Cardiomyopathy | N/A | Cardiomyopathy Ventricular arrhythmia, extended QT interval and sudden death |
| Bones, joints and movement | Focal lytic lesions in the long bones after puberty | Spastic gait (rare) | Short stature | Osteopenia, distal metaphyseal deformation with joint stiffness, atlanto-axial instability |
| Gastrointestinal complications | N/A | N/A | Functional megaoesophagus | Congenital pyloric stenosis |
| Skeletal muscle | N/A | N/A | N/A | Congenital myopathy |
| Other features | Acromegaloid features with enlarged mandible, hands and feet | Teratozoospermia | Hypocalcaemia due to vitamin D resistance | Late onset of lipodystrophy in infancy |
Abbreviations: CGL, congenital generalized lipodystrophy; N/A, not applicable.