diabetes (T2DM, monogenic, T1DM)

Question 1

describe the genetics of T2DM

Answer 1

common complex disease, thousands of genetic variants that contribute, more variants = higher risk

Question 2

which type of diabetes is more genetic

Answer 2

type 2

Question 3

what is T2DM associated with

Answer 3

obesity, hypertension, hdperlidipaemia, hyperglycaemia, PCOS, depression (poor diet)

Question 4

what is the pathology of T2DM

Answer 4

beta cells can’t handle increased glucose –> insulin resistance, beta cell hyperplasia –> cell failure

Question 5

what is the typical presentation of T2DM

Answer 5

obese (>30 BMI), middle aged, ‘non insulin dependent’, blurred vision, thirsty, UTI’s tired, polyurea

Question 6

what testing should be done for suspected T2DM

Answer 6

fasting glucose (>7), random plasma (>11.1), BMI, BP, urinaylsis, bloods (HbA1c, creatinine)

Question 7

what are the treatment principles of T2DM

Answer 7

treat symptoms, prevent microvascular complications, prevent CV risk, prevent complications (retinopathy etc)

Question 8

what is the treatment step up plan for managing T2DM (general mild –> severe)

Answer 8

1) lifestyle factors, 2) therapeutic lifestyle changes, 3) monotherapy (metformin or SURs), 4) combination therapy (no insulin) 5) combination with insulin

Question 9

what % of weight loss is needed for T2DM go into remission

Answer 9

10-15%

Question 10

what is first line treatment in T2DM

Answer 10

metformin

Question 11

what is used instead of metformin first line and why

Answer 11

SURs eg gliclazide, tolbutamide (if intolerant or osmotic symptoms)

Question 12

what are 2nd line add on therapies in T2DM

Answer 12

usually SURs, SGLT2i, DPP4 or piogliatazone

Question 13

after triple therapy in T2DM what can be added

Answer 13

basal insulin injection before bed

Question 14

what additional therapies can be given in T2DM

Answer 14

atorvostatin for cholesterol (over 40) (antiplatelets)

Question 15

what is MODY (mature onset diabetes of the young)

Answer 15

a non-autoimmune disease, autosomal dominant inheritance ie monogenic

Question 16

when does MODY usually present

Answer 16

aged 10-40, usually FH of diabetes

Question 17

is MODY insulin dependent

Answer 17

no

Question 18

what testing can be done for MODY

Answer 18

blood glucose, HbAc1, auto-antibodies as EXCLUSION of T1DM (GAD, IA2, ZnT8, low C peptide)

Question 19

what mutation is present in MODY 2

Answer 19

glucokinase

Question 20

describe MODY 2 presentation

Answer 20

onset at birth, stable hyperglycaemia, secrete insulin at higher levels, glucosuria

Question 21

how can MODY 2 usually be managed

Answer 21

diet control

Question 22

what mutation is present in MODY 1/3

Answer 22

HNF1/4 (respectively)

Question 23

describe MODY 1/3 presentation

Answer 23

young adult onset, progressive hyperglycaemia, complications

Question 24

how can MODY 1/3 usually be managed

Answer 24

SURs eg gliclazide, tolbutamide

Question 25

what mutations are usually present in neonatal diabetes

Answer 25

kir6.2 or SUR1

Question 26

describe transient neonatal diabetes (TNDM)

Answer 26

diagnosed within a week, resolves in 3 months with insulin

Question 27

describe permanent neonatal diabetes

Answer 27

diagnosed weeks 0-6, lifelong insulin, K channel mutations, SUR treatment

Question 28

what is T1DM

Answer 28

autoimmune disease where body cannot produce insulin - HLA mutation

Question 29

what are the symptoms of T1DM

Answer 29

young, tired, thin, thirsty (polydipsia), toilet (polyuria), blurred vision, candida infections, itchy skin

Question 30

what investigations are done for T1DM

Answer 30

random glucose >11.1, fasting glucose >7, HbAC1 >7% or >58, autoantibodies

Question 31

what autoantibodies are present in T1DM

Answer 31

GAD, ZnT8, IA2, low C-peptide (3 years after development)

Question 32

what are common types of insulin injections (7)

Answer 32

rapid acting, short acting, intermediate, long acting, rapid and intermediate mix, short acting and intermediate mix, basal insulins

Question 33

what are basal insulins and name common ones (3)

Answer 33

background insulin out-with meals eg insulatard, lantus, levemir

Question 34

what other ways can insulin be taken

Answer 34

orally and inhaled

Question 35

what is a basal bolus regime in T1DM

Answer 35

common and effective - short-acting before meals, long acting over night

Question 36

what is a once-daily regime in T1DM

Answer 36

longacting at night- not very effective for type 1

Question 37

what is a twice-daily regime in T1DM

Answer 37

pre breakfast and dinner - hypos common

Question 38

what are pumps

Answer 38

short acting insulin subcut, dictated by basal rate, calculated by counting carbs

Question 39

what is a freestyle libre

Answer 39

blood monitoring in arm

Question 40

what are limitations of insulin

Answer 40

have to be injected subcutaneously - muscle too deep, lipohypertrophy, needs constant review

Question 41

what are non-insulin therapies in T1DM

Answer 41

metformin, lepin, GLP1, pancreas transplant

Question 42

when is a pancreas transplant indicated

Answer 42

severe hypoglycaemia, complications, mentally unstable

Question 43

what ratio is insulin given to carbs

Answer 43

1:10

Question 44

what is the main treatment principles of T1DM

Answer 44

diet and insulin

Question 45

what are symptoms of hyperglycaemia

Answer 45

thirst, polyuria, nocturia, thrush, blurred vision, cognitive/ mood changes, DKA

Question 46

what are symptoms of hypoglycaemia

Answer 46

pale, sweating, tremor, palpitations, confusion, tired, coma