Inherited Lipodystrophies and the Metabolic Syndrome

Houshang Monajemi; Erik Stroes; Robert A. Hegele; Eric Fliers

Clin Endocrinol. 2007;67(4):479-484.

Concluding Remarks

Generalized lipodystrophies are easily detected clinically and are usually diagnosed by paediatricians because of the characteristic features from birth onwards. Partial lipodystrophies, on the other hand, are more difficult to recognize, only causing metabolic abnormalities later in life ( Table 2 ). As many of the metabolic features of partial lipodystrophy resemble those of the metabolic syndrome and/or type 2 diabetes mellitus, patients with FPLD are often misdiagnosed. The only clinical signs that are unique to such patients are lipoatrophy and the onset of severe metabolic abnormalities. Because of the marked difference in natural courses of the metabolic derangements in lipodystrophic patients vs. metabolic syndrome subjects, more attention needs to be paid to improving correct identification of lipodystrophic subjects.

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Reprint Address

Houshang Monajemi, Academic Medical Centre, Department of Vascular Medicine, Meibergdreef 9, 1105AZ Amsterdam, the Netherlands. Tel.: +31 (020) 5668061; Fax: +31 (020) 6968833; E-mail: h.monajemi@amc.nl

Cite this: Inherited Lipodystrophies and the Metabolic Syndrome - Medscape - Oct 01, 2007.

Table 1. Inherited Lipodystrophies Based Upon the Clinical Presentation
			Genetic defect	OMIM #
A) Generalized	Congenital generalized lipodystrophy (CGL)	CGL type 1 (BSCL1)	AGPAT2 (encoding 1-acylglycerol-3-phosphate o-acyltranferase2), BSCL1 locus op chromosome 9q34	603100 608594
		CGL type 2 (BSCL2)	seipin	269700
			BSCL2 locus op chromosome 11q13	606158
		CGL due to other mutations
	Generalized lipodystrophies with dysmorphic features	MADB	ZMPSTE24 metalloproteinase	608612
		Wiedemann-Rautenstrauch syndrome		264090
		Hutchinson-Gilford progeria	LMNA (encoding lamin A/C) on chromosome 1q21·2	176670
B) Partial	Familial partial lipodystrophy	Kobberling type (FPLD1)		608600
		Dunnigan type (FPLD2)	LMNA (encoding lamin A/C) on chromosome 1q21·2	151660
		Dunnigan type (FPLD3)	PPARG (peroxisome proliferator activated receptor gamma) on chromosome 3p25	604367
	Other lipodystrophies	MADA	LMNA (encoding lamin A/C) on chromosome 1q21·2	248370
	Other lipodystrophies	Mutation in a protein kinase	AKT2 (V-AKT murine thymoma viral oncogene homolog 1) on chromosome 14q32·3	164731

Table 1. Inherited Lipodystrophies Based Upon the Clinical Presentation
			Genetic defect	OMIM #
A) Generalized	Congenital generalized lipodystrophy (CGL)	CGL type 1 (BSCL1)	AGPAT2 (encoding 1-acylglycerol-3-phosphate o-acyltranferase2), BSCL1 locus op chromosome 9q34	603100 608594
		CGL type 2 (BSCL2)	seipin	269700
			BSCL2 locus op chromosome 11q13	606158
		CGL due to other mutations
	Generalized lipodystrophies with dysmorphic features	MADB	ZMPSTE24 metalloproteinase	608612
		Wiedemann-Rautenstrauch syndrome		264090
		Hutchinson-Gilford progeria	LMNA (encoding lamin A/C) on chromosome 1q21·2	176670
B) Partial	Familial partial lipodystrophy	Kobberling type (FPLD1)		608600
		Dunnigan type (FPLD2)	LMNA (encoding lamin A/C) on chromosome 1q21·2	151660
		Dunnigan type (FPLD3)	PPARG (peroxisome proliferator activated receptor gamma) on chromosome 3p25	604367
	Other lipodystrophies	MADA	LMNA (encoding lamin A/C) on chromosome 1q21·2	248370
	Other lipodystrophies	Mutation in a protein kinase	AKT2 (V-AKT murine thymoma viral oncogene homolog 1) on chromosome 14q32·3	164731

Table 2. Clinical and Metabolic Characteristics of FPLD
Partial lipodystrophies	Clinical features	Metabolic abnormalities
Kobberling type (FPLD1)	Lipoatrophy is confined to the extremities	• Severe insulin resistance often combined with only modestly increased BMI
Dunnigan type (FPLD2)	Severe lipoatrophy of the extremities and the trunk, with exception of the vulva	• Cushingoid appearance without hypercortisolism
Dunnigan type (FPLD2)	Lipohypertrophy of the head and neck region	• Acanthosis nigricans
Dunnigan type (FPLD3)	Like FPLD2, but with less severe lipoatrophy	• Recurrent episodes of pancreatitis related to hypertriglyceridaemia
		• Liver steatosis
		• Hypertension
		• Hirsutism due to PCOS

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