Lipodystrophies:partial

(FPDL acronym for Familial Partial LipoDystrophy)

Clinically and genetically variable group of disorders of the distribution of fatty tissues.

Autosomal dominant transmission. More frequent in women, onset during adolescence.

The most common clinical presentation is the Dunnigan syndrome (see this term) or FLPD2 [MIM 151 660] caused by a mutation of the LMNA gene (1q22):


Other clinical presentations:

-        FPLD1 or Kobberling syndrome: lipoatrophy at the limbs level and accumulation of adipose tissue at the level of the abdomen

-        FPLD3 or PLRS, acronym for PPARy Ligand Resistance Syndrome [MIM 604 367]: mutation of the PPARã gene (3p25), rare,  less severe lipodystrophy than in Dunningam syndrome because subcutaneous adipose tissue in the abdomen is preserved but diabetes and dyslipidemia are severe

-         FPLD 4 : mutation of the PLIN1 gene (15q26)

-         FPLD 5 : mutation of the CIDEC gene (3p25)

-         FPLD 6 : mutation of the LIPE gene (19q31-q32).

-        MandibuloAcral dysplasia or MAD: autosomal recessive transmission of a mutation in the LMNA gene coding for lamin A/C [MIM 248 370] (partial lipoatrophy) or the ZMPSTE24 or FACE1 gene that transforms prelamin A into lamin A [MIM 608 612] (total lipoatrophy); facial dysmorphism (bird-beak shaped nose, mandibular hypoplasia) and bone (small, hypoplastic clavicles) are present; It is a syndrome of accelerated ageing

-        Barraquer-Simons syndrome: acquired lipoatrophy of the upper part of the trunk associated with an accumulation of adipose tissue on the lower part of the body; membranoproliferative glomerulonephritis is observed in 30 % of cases. A mutation of the LMNB2 gene could increase the parients susceptibility to develop this form of lipoatrophy.


Anesthetic implications:

management of insulinotherapy and cardiovascular risk (hypertension, angina). Monitor the BP, ECG, cardiac ultrasound. Check hepatic and renal functions. In case of hypertriglyceridemia, avoid using a propofol-based total intravenous anesthesia: risk of acute pancreatitis.

One case report of delayed awakening after a 70 minutes long sevoflurane anesthesia. In another case, it has been shown that delayed awakening (and induction) is directly linked to the increased solubility of sevoflurane in the presence of hyperlipidemia.


References : 

Updated: February 2019