Table 3: Phenotypes of Lipodystrophy Syndromes Congenital Generalized Lipodystrophy Subtype Skin Muscle Meta-bolic Kidney GI GU Other ↓Fat ↑Fat (gene) Appendages Bone vascular Liver Endocrine Mineral Spleen AN Hyper- Hyperphagia Precocious Almost all African Hypertrichosis Acute puberty (♀) CGL 1 Birth fat lost IR/DM (58%) Phlebomegaly MR pancreatitis Accelerated AR Child Normal None Muscle hypertrophy Proteinuria Umbilical ↑TG Eruptive NAFLD growth mechanical Cystic bone lesions prominence/ ↓Leptin xanthomata (25%) Cirrhosis (♀) ↓Fertility hernia ↓Marrow Acromegaloid HTN Splenomegaly PCOS AN Precocious Hyperphagia Almost all Hypertrichosis puberty (♀) IR/DM Pancreatitis Umbilical CGL 2 fat lost Phlebomegaly MR Accelerated AR Birth None Muscle hypertrophy Proteinuria NAFLD prominence/ ↑TG (BSCL2) Eruptive (75%) growth ↓Mechanical Cirrhosis hernia ↓Leptin xanthomata (♀) ↓Marrow ↓Fertility (33%) Splenomegaly Acromegaloid PCOS Almost all Delayed growth Muscle hypertrophy fat lost IR/DM Megaesophagus Short stature CGL 3 AN Hypocalcemia AR None N N N NAFLD Amenorrhea ↓Mechanical ↑TG (CAV1) Hirsutism Vitamin D resistance Normal Splenomegaly ↓Leptin Osteopenia marrow
Child Table 3: Phenotypes of Lipodystrophy Syndromes Congenital Generalized Lipodystrophy Subtype (gene) ↓Fat ↑Fat Skin Appendages Muscle Bone Mineral Meta-bolic Kidney GI Liver Spleen GU Endocrine Other CGL 1 AR Birth Almost all fat lost Normal mechanical ↓Marrow None AN Hypertrichosis Phlebomegaly Eruptive xanthomata Acromegaloid Muscle hypertrophy Cystic bone lesions (25%) HTN IR/DM ↑TG ↓Leptin Proteinuria MR Hyperphagia Acute pancreatitis NAFLD Cirrhosis Splenomegaly Precocious puberty (♀) Accelerated growth ↓Fertility (♀) PCOS African (58%) Umbilical prominence/ hernia CGL 2 (BSCL2) AR Birth Almost all fat lost ↓Mechanical ↓Marrow None AN Hypertrichosis Phlebomegaly Eruptive xanthomata Acromegaloid Muscle hypertrophy (33%) IR/DM ↑TG ↓Leptin Proteinuria MR (75%) Hyperphagia Pancreatitis NAFLD Cirrhosis Splenomegaly Precocious puberty (♀) Accelerated growth ↓Fertility (♀) PCOS Umbilical prominence/ hernia CGL 3 (CAV1) AR Almost all fat lost ↓Mechanical Normal marrow None AN Hirsutism Muscle hypertrophy Hypocalcemia Vitamin D resistance Osteopenia N IR/DM ↑TG ↓Leptin N N Megaesophagus NAFLD Splenomegaly Delayed growth Short stature Amenorrhea Hyper- vascular