Mitochondrial Disorders Pt. 3 Flashcards
True or False: there is a cure for mito disease
False
What is important to keep in mind about treatment for mito disease?
- supportive and symptomatic
- individualized
- need integrated/multidisciplinary approach
- communication b/w providers is important
- ancillary staff needed (e.g., nurses, dietetics, PT, OT, etc.)
What are the 6 general principles of mito disease management?
- conserve energy
- pace activities
- maintain ambient environmental temperature
- avoid exposure to illness
ensure adequate nutrition and hydration - exercise is good! (HIIT)
What are the 6 current treatment options for mito disease?
- cofactors
- nutrition
- illness management
- exercise
- avoid certain meds
- management of local and general anesthesia
What 6 cofactors might help pts w/ mito disease?
- Nicotinamide (Vitamin B3)
- Thiamine (Vitamin B1)
- Riboflavin (Vitamin B2)
- Coenzyme Q10
- Carnitine
- Folic Acid
What are important tenants of nutrition for pts w/ mito disease?
- work w/ dietitian
- 3-day diet summary
- measure resting metabolic rate
- account for extra caloric expenditures
- lower protein, higher carbs
- small meals
- nighttime snacks/cornstarch
What are the important tenants of exercise for pts w/ mito disease?
- work w/ PT
- need isometric exercise
- improve balance
- pace yourself
- HIIT looks promising in the data
List 6 management issues for pts w/ mito disease
- complex multispecialty, multilevel care
- each pt is unique
- same pt might have different clinical picture at each admission
- can’t categorize pts
- pts can decompensate quickly
- can’t expect typical illness/infection response (fever/BP as immune system requires energy)
List 3 challenges of living w/ mito disease
- affects multiple organs, family members, and generations
- lack of awareness/understanding of mito disease
- need to expend energy explaining their disease, fight for services, and advocate for themselves
What outpatient management do pts w/ mito disease need?
- assistance w/ therapies
- coping w/ illness
- immunizations
- infection control
- nutrition support
- develop individual action plan
What should be included in an individualized action plan?
- know baseline and minimize exertion
- rehab (water therapy/cardiac rehab)
- nutrition/adequate caloric intake/avoid fasting
- minimize energy loss
- adequate sleep/rest
- avoid decompensation triggers
- avoid stress/negative moods
- avoid ambient temperature extremes
- keep logs
What are some things to consider for the coordination of care for pts w/ mito disease?
- need a PCP
- specialists seen depending on symptoms
- share medical records b/w providers
- keep a set of own medical records and take them to appts
- developmental evals
- PT
- school evals
- updated list of meds and reasons for taking them
- list of questions for provider (email ahead of visit)
- get summary plan
How often should pts w/ mito disease see a provider (outside of necessary admissions)?
3 months/6 months/1 year
True or False: Isolated chronic fatigue w/out objective neurological findings is unlikely to be mito disease
True
What is a gene that our presenter recommends be included on any mito panel we order?
POLG
