[MIM 151 660]

(Familial partial lipodystrophy type 2, FPLD2)

Rare: 1/100,000. Lipodystrophy associated with insulin resistance. Autosomal dominant transmission of a mutation of the LMNA (1q21) gene that encodes for lamin A/C.

This lipodystrophy is characteristic by its location: absence of subcutaneous fat in the lower part of the body (limbs, buttocks and trunk) with an accumulation of adipose tissue at the level of the face and neck ("buffalo hump") which can cause a pseudo-cushingoid facies.

Other clinical signs:

-        onset at puberty

-        acanthosis nigricans:  brown to black, velvety hyperpigmentation of the skin; usually found in body folds (neck, axilla, groin).

-        hepatomegaly with steatosis

-        girls: hirsutism, polycystic ovary syndrome

-        stocky appearance (wide shoulders), muscle hypertrophy, usually normal BMI

-        hypertriglyceridemia, with a risk of acute pancreatitis and early diabetes, early atheromatosis

-        increased cardiovascular risk with disorders of cardiac conduction because mutations of genes located near the LMNA gene  produce the Emery-Dreifuss muscular dystrophy, the Limb Girdle Muscular Dystrophies ou LGMD 1 B or a dilated cardiomyopathy

-        sometimes obstructive sleep apneas

Evaluation: hypertriglyceridemia, hyperinsulinemia, high SGPT levels, sometimes high CPK levels, low leptin levels

Treatment: metformin, insulin, hypolipidemic agents, sometimes daily injections of metreleptine

Anesthetic implications: 

management of insulinotherapy and cardiovascular risk (hypertension, angina). Check the BP, ECG (LVH, rhythm disorders ?), cardiac ultrasound (cardiomyopathy ?). Check liver function. Avoid propofol-based total intravenous anesthesia  in case of hypertriglyceridemia: risk of acute pancreatitis.

In another form of lipodystrophy, it has been shown that delayed of awakening (and induction) is directly linked to the increase in the blood solubility of sevoflurane in the presence of hyperlipidemia

References : 

• Capeau J, Magré L, Lascols O, Caron M, Béréziat V, Vigouroux C. 
  Lipodystrophies primitives. 
  Encyclopédie Orphanet février 2007
• Bustamante SE, Appachi E. 
  Acute pancreatitis after anesthesia with propofol in a child with glycogen storage disease type IA.
  Pediatr Anesth 2006; 16: 680-3.
• Steen ER, De Baerdemaeker LEC, Van Limmen E, Wouters P. 
  Some pharmacokinetics of sevoflurane in a child with severe lipodystrophy. 
  A & A Case Reports 2014; 2: 61-4. 
• Losbah H, Donadille B, Vatier C, Janmaat S, Badens S et al.
  Dunnigan lipodystrophy: French national diagnosis and care protocol.
  Orphanet J Rare Diseases 2022; 17:170 doi 10.1186/s13023-022-02308-7

Updated: May 2022