LIPODYSTROPHY

Question 1

Recognise the clinical features of congenital lipodystrophies

Answer 1

Question 2

Recognise the clinical features of acquired lipodystrophies

Answer 2

Acquired lipodystrophy refers to a heterogeneous group of disorders in which there is localised, partial or generalised loss of subcutaneous fat (lipoatrophy), in certain cases accompanied by fat accumulationin other body sites.

Question 3

When are what investigations are required for lipodystrophies?

Question 4

What is the management of lipodystrophies?

Question 5

Answer 5

Question 6

What are the causes of lipohypertrophy?

Answer 6

Question 7

What is lipoedema?

Answer 7

Lipoedema is the term used to describe swelling of tissues due to abnormal accumulation of subcutaneous fat rather than fluid as seen in lymphoedema, with which it may be confused or coexist (lipo lymphoedema). In the majority of cases, lipoedema affects the lower extremities but it may also affect the upper extremities and the scalp.

Here after the term lipoedema, if unqualified, will be used
to denote lipoedema of the lower limbs.

Occurring anywhere from the buttocks to the ankles, with sparing of the feet.

Lipoedema occurs independently of lymphatic stasis or venous insufficiency. Imaging studies verify that oedema is minimal and the swelling is in fact due to homogenous enlargement of the subcutaneous compartment

In contrast to lipoedema, patients with lymphoedema
have a positive Stemmer sign where there is an inability to pinch a fold of skin at the base of the second toe due to thickening and fibrosis of the subcutaneous tissue.

Question 8

Answer 8

Proteasome-associated autoinflammatory syndrome
1 (CANDLE syndrome, Nakajo–Nishimura syndrome)

AR
Hereditary panniculitis

PSMB8

Encodes a catalytic subunit of the immunoproteasome, which
influences the antigenic repertoire presented on major
histocompatibility complex (MHC) class I molecules
Annular erythematous plaques, violaceous eyelids,
panniculitis-induced lipoatrophy affecting the face and extremities, elevated temperature, inflammatory markers, microcytic anaemia, failure to thrive, joint contractures, muscular atrophy

Question 9

Answer 9

CONGENITAL GENERALISED LIPODYSTROPHIES
The CGLs (Beradinelli–Seip syndrome) are a group of rare autosomal recessive conditions that first present in neonates. The phenotype is characterised by a virtual absence of subcutaneous and visceral adipose tissue, distinctive muscular appearance and prominent veins. Mechanical adipose tissue of the palms, soles, orbits, scalp and joints is usually spared, but it is deficient in CGL2. This severe lack of metabolically active adipose tissue results in childhood-onset metabolic complications, including hypertriglyceridaemia, hepatic steatosis, palpable hepatosplenomegaly and acanthosis nigricans. Type 2 diabetes develops during adolescence or early adulthood.