Introduction: Lipodystrophic syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue. Other prominent abnormalities of these disorders include Diabetes Mellitus and acanthosis nigricans due to the associated insulin resistance. Liver affection is common due to fatty infiltration of the liver, which can lead to cirrhosis and its complications.
Clinical case: A 31 years old single female presented to our emergency department multiple times due to hematemesis, hepatic coma and uncontrolled Diabetes Mellitus. She was diagnosed with Diabetes since the age of 15 and was on insulin therapy but always uncontrolled. She also reported history of 2ry amenorrhea. Her clinical examination revealed a BMI of 17 (normal range: 18.524.9), obvious loss of subcutaneous fat all over her body, pallor, acromegaloid features, acanthosis nigricans, hepatosplenomegaly, ascites and her fundus examination showed proliferative diabetic retinopathy. Her laboratory investigations showed microcytic hypochromic anemia (Hb: 11 g/dl; n: 1215.5 g/dl), impaired coagulation profile (INR: 1.2; n: 1) and hypoalbumineamia (Alb: 2.4 g/dl; n: 3.55.5 g/dl). Her FBG was 250 mg/dl, OGTT 380 mg/dl and HbA1C 9%. Her lipid profile was normal apart from HDL of 28 mg/dl (n>50 mg/dl). Liver and kidney function tests, hepatitis markers and autoimmune hepatitis markers were normal. Her TSH was normal, but her FSH was 1.4 mIU/ml (n: 1.59 mIU/ml), LH: 0.2 mIU/ml (n: 111.4 mIU/ml), estradiol was 20 pg/ml (n: 44211 pg/ml). Her upper endoscopy showed grade III oesophageal varices and band ligation was done. Her Child-Pugh score was 9 (Child B).
Conclusion: Although lipodystrophy syndromes usually present with dyslipidemia, a normal lipid profile can be found in those patients with late stage disease associated liver cirrhosis. Lipodystrophy syndromes usually present early in life and the associated Diabetes Mellitus is mainly due to insulin resistance and shouldnt be misdiagnosed as T1DM. Medications such as Thiozolidines and Metformin can improve insulin resistance in the early disease before the onset of liver cirrhosis. Later on Insulin and leptin remain the only treatment lines.
Key words: Lipodystrophy, Insulin resistance, Diabetes Mellitus, fatty liver, liver cirrhosis.
Refrences: Akinci B, Onay H, Demir T, et al. Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy. Metabolism 2017; 72:109.
Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011; 96:3313.
19 - 22 May 2018
European Society of Endocrinology