脂肪营养不良综合征

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Familial Partial Lipodystrophy
Many patients (especially women) have fat accumulation in the face, neck, and intraabdominal region, which may lead to a Cushingoid 类库欣appearance.
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generalized lipodystrophy
For both CGL and AGL, the presentation of diabetes in association with clinical evidence of insulin resistance胰岛素抵抗 (e.g., high triglyceride levels) in a nonobese pediatric patient should serve as key distinguishing features from type 1 diabetes. it is important to recognize that patients with all forms of generalized lipodystrophy can develop ketoacidosis酮症酸中毒, especially under severe metabolic stress.
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Familial Partial Lipodystrophy
FPL（家族性部分脂肪营养不良） is predominantly inherited in an autosomal dominant 常染色体显性遗传fashion.Patients with FPL usually have normal body fat distribution during infancy and early childhood, but, beginning around or after puberty青春期, typically develop variable and progressive loss of subcutaneous fat in the arms and legs resulting in a peripheral muscular appearance with variable loss of fat in the anterior abdomen and chest .
definition and Classification
definition
A heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue ， which may occur in conjunction with pathological accumulation of fat in other distinct regions of the body，Belonged to the autonomic nervous system diseases
Lipodystrophy syndromes
definition and classification
Clinical Findings of the Major Lipodystrophy Subtypes
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structure
Clinical Characteristics
Diagnosis
Therapies
Congenital Generalized Lipodystrophy
CGL(先天性全身脂肪营养不良), or BerardinelliSeip syndrome（伯拉迪尼 - 塞普综合征）, is an autosomal recessive常染色体隐性遗传 disorder characterized by a generalized lack of adipose tissue at birth or shortly thereafter (within the first year of life), and is accompanied by prominent muscularity and subcutaneous veins .
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Congenital Generalized Lipodystrophy
Hepatomegaly from severe hepatic steatosis is common and can progress to steatohepatitis脂肪性 肝炎, cirrhosis, and liver failure. females with CGL may have hirsutism, clitoromegaly, irregular menstrual periods, polycystic ovaries, and/or infertility .There are at least three kinds of diseasecausing genes, clinically divided into three subtypes: CGL1, CGL2, CGL3.95% of CGL for the first two subtypes, and mutations associated基因突变 AGPAT2 and BSCL2.
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classification
congenital generalized lipodystrophy (CGL) acquired generalized lipodystrophy (AGL)
familial partial lipodystrophy (FPL)
acquired partial lipodystrophy (APL) HAART-associated lipodystrophy syndrome
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acquired generalized lipodystrophy
Acquired generalized lipodystrophy (AGL) in A, a 19-year-old woman, B, a 9-year-old girl with juvenile dermatomyositis. Some common features among the 2 cases include lack of body fat and acanthosis nigricans, as well as abdominal protuberance.
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Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy in A, a 6-month-old infant with promi- nent muscularity and veins, B, a 16-year-old girl with acanthosis nigricans and umbilical prominence, C, a 15-year-old boy with umbilical prominence and otherwise normal appearing muscular habitus.
acquired generalized lipodystrophy
AGL(获得性全身脂肪营养不良), or Lawrence syndrome(劳伦斯综合征), in contrast to CGL, patients with AGL are born with normal fat distribution but lose fat in a generalized fashion, typically starting in childhood or adolescence (rarely beginning after 30 years of age)
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Congenital Generalized Lipodystrophy
In early childhood, patients with CGL may exhibit hyperphagia 食欲过盛(possibly a manifestation of underlying leptin deficiency), accelerated linear growth, advanced bone age骨龄超前, or acromegaloid features (enlarged hands, feet, and mandible), while later in childhood, acanthosis nigricans黑棘皮症 can develop and become widespread . Hyperinsulinemia and hypertriglyceridemia高胰岛素血症和高甘油三酯血 症 can occur at an early age, with ketosis-resistant diabetes mellitus酮症性糖尿病 usually developing later in adolescence.
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acquired generalized lipodystrophy
In some patients, the onset of AGL is heralded by the development of subcutaneous inflammatory nodules皮下炎性结节 (panniculitis); AGL occurs in approximately 3 times as many women as men. In a case series of 79 patients , AGL was classified into panniculitisassociated脂膜炎 (~25% of cases), autoimmune自身免疫 (~25%), and idiopathic types特发性 (~50%) on the basis of clinical findings. Autoimmune diseases, especially juvenile dermatomyositis儿童皮肌 炎 and autoimmune hepatitis, occur commonly with AGL , suggesting that AGL could represent an autoimmune disease itself, but the inciting factors (autoantigens or effector mechanisms) remain to be elucidated.
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acquired generalized lipodystrophy
Progressive fat loss usually occurs over a period of months to years, or as rapid as a few weeks for some patients, and affects large areas of the body, especially the face and extremities (including the palms and soles).Intra-abdominal fat loss is variable, and there may be sparing of bone marrow骨 髓 and retroorbital眶后的 fat.