Obesity Algorithm Flashcards
What satiety hormone is elevated in Roux en Y bypass is elevated and why?
GLP-1. Because surgery bypasses the proximal small intestine therefore you have rapid transit of food to the distal small intestine and thus, higher levels of GLP1 will increase.
Why does Roux en Y surgery help diabetes?
Because you have elevated GLP-1 so you have decrease in hepatic gluconeogenesis which is usually always turned on in diabetics.
What is the most common monogenic defect predisposing to obesity?
MC4R
What are features of MC4R deficiency?
Hyperphagia
Tall stature
Insulin resistance
Autosomal recessive or dominant
Higher leptin/LR
What are features of POMC deficiency?
Decreased ACTH which can lead to congenital adrenal insufficiency
Decreased alpha MSH as POMC makes this too.
Pale skin/red hair - hypopigmentation
Autosomal Recessive
Hyperphagia
What are features of Lepr deficiency and congenital leptin deficiency?
LepR - normal or elevated Leptin,
Congenital - undetectable leptin
Both have - hyperphagia, hypogonadism
Impaired T cell - frequent infections
Autosomal recessive
Can use Setmelanotide for LEPR deficiency.
Can use Metreleptin for Congenital lefptin deficiency with lipodystrophy
What are features of Bardet Biedl Syndrom?
Rare
Hyperphagia
Vison loss- retinitis pigmentosa which can lead to night blindness
Renal disease
Metabolic syndrome
Delayed puberty
Polydactyly
Can use Setmelanotide to help obesity
What conditions is Setmelanotide approved for?
POMC
LEPR deficiency
Bardet Biedl
What are features of Cohen Syndrome?
Chromosome 8p22 mutation
Central obesity - thin arms/legs
Thick hair, eyebrows and eyelashes
Small face
Developmental delay
Retinal dystrophy
Hypermobility
Overly friendly
Neutropenia
Some will have seizures and deafness
Autosomal recessive
What are some features of Prader Willi?
High Ghrelin and low leptin
Hypotonia and poor feeding at birth
Hyperphagia at age 2
Thin face with almond shaped eyes
Delayed development and intellectual impairment
Hypogonadism
Paternal chromosome 15 - partial loss of function, deletion of q11-13 region
Most common form of syndromic obesity
What are some features of Albright’s Hereditary Osteodystrophy?
Short Stature
Pseudohypoparathyroidism
Dental abnormalities
Round face
Shortened fingers/toes
Resistance to several hormones
Genetic imprinting in autosomal dominant manner
What are some features of PCKS1 deficiency?
Severe weight loss and diarrhea seen in infancy, increase in appetite and weight gain by 2yo
poor linear growth
Beckwith-Weidermann Syndrome
11p15.5 mutation
Macroglossia
Hepatosplenomegaly
hypoglycemia in 30-50% of babies
predisposition to tumor development
Alstrom Syndrome
Photophobia
Nystagmus
Deafness
Blindness
Diabetes
What does indirect calorimetry estimate?
REE