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. Author manuscript; available in PMC: 2020 Nov 2.
Published in final edited form as: Nat Rev Endocrinol. 2015 Aug 4;11(9):522–534. doi: 10.1038/nrendo.2015.123

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.