Cystic Fibrosis Expert Update 2017

During one of our recent group clinical meetings, one of my partners (Edith Pilzer, MD) presented an update on cystic fibrosis.

Here is a link to her slides:Link: cf-presentation

Here are a few of my notes:

There has been a great improvement in survival of cystic fibrosis patients..  From the Cystic Fibrosis Foundation:

  • ” Today the median predicted survival age is close to 40. This is a dramatic improvement from the 1950s, when a child with CF rarely lived long enough to attend elementary school.”

cftr2org  —website provide information on specific genotypes, including whether genotype is associated with pancreatic insufficiency

From the website:

  • This website provides information for members of the general public, including cystic fibrosis patients and their family members, about what is currently known about specific genetic variants related to cystic fibrosis.
  • Patients and their family members are encouraged to visit the section, “For patients and family members” first.
  • This website also provides more in-depth research-related information for health care professionals and researchers

Pancreatic enzyme replacement therapy (PERT) (see slides)

  • Creon 3000 beads are small enough to go through Gastrostomy tube
  • Pertzye has bicarbonate; thus, additional acid blocker administration is usually not needed
  • Viokase is hard to obtain
  • Relizorb –external lipase cartiledge.  This allows formula, delivered by NG, to run through column and obviates the need for additional PERT dosing.  One cartridge designed for 500 cc but several cartridges can be ‘piggy-backed.’ Here is website: relizorb.com.  Relizorb intent is to eliminate enzymes for night feeds, though it only has lipase; yet, there still could be a need additional PERT for protease and amylase.  Potentially PERT could be administered before or after and hopefully avoid awakening at night for enzymes..

Cystic Fibrosis Related Diabetes (CFRD)

  • Frequent reason for poor growth
  • Now, with increased survival, ~35% of Cystic Fibrosis patients develop CFRD

Distal Intestinal Obstruction Syndrome (DIOS)

  • If mild, treatment with miralax is reasonable
  • If vomiting, consider surgery consult
  • If more than mild, consider water-soluble enema with 10% mucomyst

My take: Great update.  Edith has been taking care of children with cystic fibrosis for more than 30 years and has witnessed/participated in the improvement in the survival of these patients.

Related blog posts:

Disclaimer: These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician.  This content is not a substitute for medical advice, diagnosis or treatment provided by a qualified healthcare provider. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a condition.

 

Puerto Rico

Puerto Rico

Nutrition Guidelines for Cystic Fibrosis

Wilschanski et al (JPGN 2016; 63: 671-5) provide a summary (“highlights”) of a full report (Turck D et al. Clin Nutr 2016; 35: 557-77) on nutritional recommendations for infant and children with cystic fibrosis.

What’s in here:

Table 1: criteria for adequate nutritional status including

  • Age <2 yrs: 50% for weight & height compared to healthy-age peers
  • Age 2-18 yrs: 50% BMI compared to healthy peers

Table 2: nutritional assessment and followup

  • Assess elastase-1 annually if pancreatic sufficient
  • Assess pancreatic enzyme supplementation
  • Annual blood tests: CBC/d, iron status, fat-soluble vitamins, LFTs.  Possibly: fatty acids
  • If older than 10 years, annual glucose tolerance
  • Dietary review every 3 months
  • Bone density assessment between 8-10 yrs and then every 1-5 yrs

Table 3: Energy requirements

  • Anticipate need for 110-200% compared with healthy peers

Table 4: Pancreatic enzyme replacement therapy (PERT)

  • 0-1 yr: 2000-4000 units lipase/120 mL of formula/breast milk & 2000 units lipase/gram of dietary fat
  • 1-4 yrs: 2000-4000 units of lipase/gram of dietary fat (max 10,000 units lipase/kg/day)
  • >4 yrs: starting dose; 500 units lipase/kg/meal -titrate up to 1000-2500 units lipase/kg/meal (max 10,000 units lipase/kg/day)

Table 5: Fat-soluble vitamin/vitamin guidelines

Table 6: Sodium supplementation

  • 0-6 months: 1-2 mmol/kg/day –give salt in small portions throughout the day, “diluted in water or fruit juice”.  In some infants, up to 4 mmol/kg/day if increased losses (eg. due to heat, gastrointestinal losses)
  • Older children: anticipate need for additional salty foods or use sodium chloride capsules, especially when excessive sweating (eg. fever, sports, hot weather)

Related blog posts:

Disclaimer: These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician.  This content is not a substitute for medical advice, diagnosis or treatment provided by a qualified healthcare provider. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a condition.

Maine Coast, near Acadia

Maine Coast, near Acadia

 

N2U -Part 3: EoE, IBD, and Cystic Fibrosis

2015 N2U Syllabus & Presentations

EoE Dietary Pointers (Syllabus pg 83-94): Sally Schwartz, Valeria Cohran

  • Even with SFED, elemental supplements helpful
  • Drink elemental beverages from covered glass with straw (improves palatability)
  • Cross-contamination –big issue
  • Label reading critical

Related posts:

IBD EEN Pointers (Syllabus pg 95-102): Rebecca Pipkorn, Justine Turner

  • Polymeric formulas –most palatable and least expensive. Oral EEN is used costly/not covered
  • EEN particularly helpful with microperforation/flare-up presentation and with infections (eg. TB)
  • EEN induces mucosal healing and improved symptoms

References:

  • Levin et al. Inflamm Bowel Dis. 2014;20:278-285.
  • Johnson et al. Gut 2006;55:356-361.
  • Sigall-Boneh et al. Inflamm Bowel Dis. 2014;20:1353-1360.
  • Wilschanski et al. Gut 1996;38543–548.
  • Critich et al. J Pediatr Gastroenterol Nutr. 2012;54: 298–305. NASPGHAN Guidelines

Conclusions:

  • Enteral therapy offers an alternative to steroids in patients with CD
  • Has potential to improve growth and IBD symptoms
  • Avoids the side effects of steroids
  • Need further research:
  1. – Unclear of the mechanism
  2. – Unclear of the best protocol
  3. – No standard protocol for reintroduction of food

Related posts:

Cystic Fibrosis (Syllabus pg 34-50) Justine Turner

Case in point: 10 yo with CF and poor growth, hx/o DIOS, poor intake, and distention.  Family had refused tube feedings previously.

Key point: Long-term survival is linked to nutritional status

  • Zemel et al. J Pediatr. 2000; 137(3):374-380.
  • Stallings et al. J Am Diet Assoc. 2008; 108(5):832-839.
  • McPhail et al. J Pediatr. 2008; 153(6):752-757.
  • Sharma et al. Thorax 2001; 56:746-750.

Other Caveats:

  • Intervene early
  • Breast milk (often with supplements) is optimal for infants
  • Poor oral intake àcould need periactin and/or supplemental feeds
  • Discussion re: pros/cons of Gtubes (pg 47 in syllabus)
  • Psychology support

Nutrition Goals

  • – Normal growth and optimal nutritional status
  • – Ages 0-2 year: Weight for length >50th percentile
  • – Ages 2-20 year: BMI percentile at or above 50th percentile
  • – BMI for males:23
  • – BMI for females: 22

Nutritional assessment at every visit & review:

  • – Weight, length/height, weight for length, BMI, head circumference in infants
  • – Nutritional education & dietary counseling
  • – Review PERT
  • – Review need for micronutrient supplementation: fat soluble vitamins (A, D, E, K), Ca, Fe, Zn, Na (salt), essential fatty acids

PERT (Pancreatic enzyme replacement therapy):

  • Infants 2000-4000 U lipase with 120 mL breast milk or formula– Mouth care for infants (and breast feeding mother)
  • Children 500-2500 U lipase/kg per meal (≤10000 U/kg/day or ≤ 4000 U/g fat/day); half meal dose with snacks
  • Ideally taken with meals and orally
  • Microspheres preferred formulation
  • Acid blockade (used to optimize enzyme activity)
  • Gold standard to assess adequacy is 72h fecal fat collection

Cystic Fibrosis Related Diabetes

  • Rare before 10 years of age
  • Increases mortality risk 6-fold
  • Weight loss and pulmonary decline begin 2-4 years prior to
  • diagnosis of CFRD

Related posts:

 

Robie House (at Univ Chicago)

Robie House (at Univ Chicago)