GL and PL - How to detect them

Basically, GL or PL is a visual diagnosis, but the patient must be examined unclothed. However, in addition to the unusual appearance there are also other conspicuous clinical symptoms. These can essentially be traced back to leptin deficiency and ectopic fat storage. GL and PL are heterogenous in appearance – but they are always linked to a lack of subcutaneous body fat1.

Overview of clinical findings for GL and PL2

 

Congenital GL

Acquired GL

Familial PL

Acquired PL

Time of manifestation

Infancy to early childhood

Childhood to adult age

Childhood to adult age

Childhood to adult age

Fat loss locations

Face and neck

Chest/trunk

Upper extremities

Lower extremities

Intra-abdominal

Fat accumulation/sparing

Face and neck

Hips and buttocks

Lower extremities

Intra-abdominal

Other signs

Accelerated linear growth

Acromegaloid features

Umbilical prominence

Panniculitis

Hepatomegaly

Splenomegaly

Acanthosis nigricans

Hirsutism

Hyperphagia

Hypergonadism

Hyperandrogenism in women

Essential finding

supportive finding

Serum leptin levels are typically very low in patients with congenital GL.1
However, serum leptin levels alone are not a sufficient parameter for diagnosis. They vary according to the time of day and depend on sex, age, BMI and metabolic state. So far, no accepted normal value ranges have been established.1,3

How lipodystrophy may present

Metabolic abnormalities 1

Hyperphagia

Hypertriglyceridaemia

Severe resistance to insulin and diabetes

»I am not an athlete,
I don‘t work out,
I live with GL«

Dwanna, congenital GL


            Woman with congenital generalised lipodystrophy, very athletic appearance.

Secondary diseases1,2,4

Cardiovascular diseases and heart failure

Hepatic steatosis, liver cirrhosis, liver failure

Acute pancreatitis

Kidney diseases,
kidney failure

Do you have a patient with this symptom complex? Or one with aspects such as:

Hypertriglyceridaemia and hyperglycaemia that are difficult to stabilise but have no further abnormalities?2

Patients with anamnestic panniculitis or juvenile dermatomyositis?5

A conspicuously thin patient with hyperphagia?1

Subcutaneous fat deficiency at birth or loss of fat shortly afterwards?1

Diagnosis of Type 1 diabetes, but pronounced insulin resistance?1,2

Hepatomegaly with no recognisable cause?1,2

Patients suspected with GL or PL may be best managed in a centre that specialises in this rare disease.

1 Brown et al., The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab. 2016; 101: 4500 – 4511.

2 Handelsman Y, Oral EA, Bloomgarden ZT, et al. The clinical approach to the detection of lipodystrophy – An AACE Consensus Statement. Endocr Pract 2013;19:107–116.

3 Alkhzouz C, Lazea C, Nascu I, et al. Correlation between body mass index, body fat proportion and leptin level in obese children. Jurnalul Pediatrului 2015;18;Supp. 3.

4 Chan JL, Oral EA. Clinical classification and treatment of congenital and acquired lipodystrophy. Endocr Pract. 2010;16(2):310-323. doi:10.4158/EP09154.RA.

5 Misra A, Garg A. Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. Medicine (Baltimore) 2003;82:129-46.