Introduction
Recognition and diagnosis of lipodystrophy
1 Congenital |
1.1 Generalized (Berardinelli-Seip syndrome) |
1.1.1 Type 1 congenital generalized lipodystrophy (AGPAT2, recessive, OMIM #608594) |
1.1.2 Type 2 congenital generalized lipodystrophy (BSCL2, recessive, OMIM #269700) |
1.2.3 Type 3 congenital generalized lipodystrophy (CAV1, recessive, OMIM #612526) |
1.2.4 Type 4 congenital generalized lipodystrophy (PTRF, recessive, OMIM #613327) |
1.2.5 PPARG-associated congenital generalized lipodystrophy (recessive) |
1.2 Partial |
1.2.1 Type 1 familial partial lipodystrophy (Köbberling syndrome; unknown genes, dominant or polygenic, OMIM #608600) |
1.2.2 Type 2 familial partial lipodystrophy (Dunnigan disease; LMNA, dominant or codominant, OMIM #151660) |
1.2.3 Type 3 familial partial lipodystrophy (PPARG, dominant, OMIM #604367) |
1.2.4 Type 4 familial partial lipodystrophy (PLIN1, dominant, OMIM #613877) |
1.2.5 Type 5 familial partial lipodystrophy (CIDEC, recessive, OMIM #615238) |
1.2.6 Type 6 familial partial lipodystrophy (LIPE, recessive, OMIM #615980) |
1.2.7 AKT2-linked lipodystrophy (dominant) |
1.2.8 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (CAV1, OMIM #606721) |
1.3 Systemic |
1.3.1 Progeroid syndromes Generalized |
1.3.1.1 Hutchinson-Gilford progeria syndrome (LMNA, dominant, OMIM #176670) 1.3.1.2 Atypical Werner syndrome and atypical progeroid syndrome (LMNA, dominant) 1.3.1.3 SHORT syndrome (PIK3R1, dominant, OMOM #269880) 1.3.1.4 MDPL syndrome (generalized or partial; POLD1, dominant, OMIM #615381) 1.3.1.5 Keppen-Lubinsky syndrome (KCNJ6, dominant, OMIM #614098) 1.3.1.6 Néstor-Guillermo progeria syndrome (BANF1, recessive, OMIM #614008) 1.3.1.7 Type B mandibuloacral dysplasia (ZMPSTE24, recessive, OMIM #608612) 1.3.1.8 Ruijs-Aalfs syndrome (SPRTN, recessive, OMIM #616200) 1.3.1.9 Cockayne syndrome (ERCC6, ERCC8, recessive, OMIM #133540, #216400) Partial 1.3.1.10 Marfan syndrome with neonatal progeroid syndrome–like lipodystrophy (FBN1, dominant, OMIM #616914) 1.3.1.11 CAV1-associated neonatal onset lipodystrophy syndrome (dominant) 1.3.1.12 Werner syndrome (WRN/RECQL2, recessive, OMIM #277700) 1.3.1.13 Type A mandibuloacral dysplasia (LMNA, recessive, OMIM #248370) 1.3.1.14 PCYT1A lipodystrophy (recessive) 1.3.1.15 Bloom syndrome (RECQL3, recessive, OMIM #210900) 1.3.1.16 Neonatal progeroid syndrome (possibly associated with POLR3A, recessive, OMIM #264090) |
1.3.2 Autoinflammatory syndromes, ALDD (generalized or partial), OMIM #256040 |
1.3.2.1 Nakajo-Nishimura syndrome (PSMB8) |
1.3.2.2 JMP syndrome (PSMB8) |
1.3.2.3 CANDLE syndrome (PSMB8) |
2 Acquired |
2.1 Generalized |
2.1.1 Acquired generalized lipodystrophy (Lawrence syndrome) |
2.2 Partial 2.2.1 HIV-associated lipodystrophy 2.2.2 Acquired partial lipodystrophy (Barraquer-Simons syndrome, OMIM #608709) 2.2.3 Lipodystrophy associated with total body irradiation and hematopoietic stem cell transplant |
2.3 Localized |
2.3.1 Lipodystrophy caused by drug injections |
2.3.2 Lipodystrophy semicircularis |
2.3.3 Centrifugal lipodystrophy |
2.3.4 Panniculitis-associated lipodystrophy |
Step 1: Determination of whether the patient has lipodystrophy
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Severe weight loss due to anorexia nervosa, starvation, malnutrition, uncontrolled diabetes, hyperthyroidism, adrenal insufficiency, cancer cachexia, or severe chronic infection.
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Donohue syndrome (leprechaunism) and Rabson–Mendenhall syndrome, which are both recessive syndromes associated to variants in the INSR gene. Leprechaunism is the most severe disorder characterized by craniofacial abnormalities including elfin face, large, low-set ears, growth retardation, marked lack of adipose tissue, decreased muscle mass, hypertrichosis, pachyderma, acanthosis nigricans, virilization, and severe insulin resistance with paradoxical hypoglycemia. Death often occurs during early infancy. Children with Rabson–Mendenhall syndrome have a longer survival (15–20 years old) and present with coarse face with prognathism, dental crowding, short stature, thin non-lipoatrophic body type, severe acanthosis nigricans, phallic enlargement or clitoromegaly, paradoxical hypoglycemia, hyperinsulinemia, and diabetic ketoacidosis [16].
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Multiple symmetric lipomatosis.
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Cushing syndrome.