Tuesday, 31 March 2026

Lipodystrophy

 



 

Lipodystrophy refers to a group of disorders characterized by loss (partial or complete) of adipose tissue, often associated with metabolic abnormalities.

 Early Description (19th Century)

  • First clearly described by Mitchell Henry in 1885
  • Reported patients with:
    • Marked loss of body fat
    • Prominent musculature
  • Initially considered a rare constitutional disorder
  •   1885 – Mitchell Henry: first description
  •  1906–1911 – Barraquer & Simons: partial lipodystrophy
  •  1954–1959 – Berardinelli & Seip: congenital generalized form
  • 1990s – HIV-associated lipodystrophy recognized
  •   2000s – Genetic and hormonal basis established  

 

 

 

                                                            Liodystrophy = Leptin Deficiency

 
 
 
 
Leptin For Lipodystrophy
 
Approved by U.S. Food and Drug Administration in 2014 for generalized lipodystrophy
 

 “Metreleptin, a recombinant leptin analog, is used to treat generalized lipodystrophy by improving insulin resistance, hypertriglyceridemia, and fatty liver.”

 

 

 


 
 
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Turcot Syndrome

 

                                                                      Polyposis Syndrome 

                                                            Turcot Syndrome 
 

First Description (1959)

  • Described by Jacques Turcot
  • Year: 1959
  • Published in: Canadian Medical Association Journal 

🔬 Original Observation

  • Turcot reported two siblings
    • Multiple colorectal polyps
    • Malignant brain tumors
  • Suggested a genetic link between intestinal and CNS tumors 

 
 
 
 
 
Current Events
 
 
 
 
 
Snapshot