Nutritional Aspects of EB

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Nutritional Aspects of EB
Anne W. Lucky, M.D. Vol. Professor of Dermatology
and Pediatrics Co-Director, Epidermolysis Bullosa
Center The Cincinnati Childrens
Hospital Cincinnati, Ohio USA
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Causes of Malnutrition in EB

• Decreased intake
• Intraoral blistering
• Limited mouth opening
• Poor dentition
• Difficulty swallowing
• Mouth and esophageal erosions
• Strictures and webs
• Role of chronic inflammation
• ? Poor absorption
• Discussed elsewhere in the Symposium

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Causes of Malnutrition in EB cont.

• Increased metabolic needs
• Chronic inflammation
• Chronic infection
• Wound healing
• Protein red cell loss from wounds
• Lifestyle and psychological issues
• Decreased UV exposure (Vit D)
• Decreased activity (osteopenia)
• Aversion to food intake
• Aversion to use of feeding gastrostomy

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Consequences of Poor Nutrition

• Failure to thrive
• Height
• Weight
• Sexual maturity
• Anemia
• Primarily iron deficiency
• Osteopenia / osteoporosis
• Poor wound healing
• Zinc and other deficiencies

Discussed elsewhere in the Symposium
5
Consequences of Poor Nutrition cont.

• Constipation
• Inadequate fiber
• Dehydration
• Cardiomyopathy
• Selenium deficiency
• ? Carnitine deficiency

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Deficiencies of Vitamins and Minerals in RDEB
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Deficiencies of Vitamins and Minerals in RDEB
cont.
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Other Vitamin and Mineral Levels in RDEB

• Normal levels of
• B12
• Thiamine
• Riboflavin
• Vitamin B1
• Carnitine
• Elevated levels of
• Copper

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Management of Nutritional Problems

• Facilitate intake
• Dental care
• Esophageal dilatation
• Gastrostomy
• Increase caloric intake

Discussed elsewhere in the Symposium
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Management of Constipation

• Lubrication and analgesics for anal fissures
• High fluid intake for dehydration
• Increased fiber in diet
• Laxatives
• Miralax (Polyethylene glycol, an osmotic agent)
  Usual dose 1 mg/kg ?titrate to effect
• Mineral oil
• Beware of aspiration
• Lactulose
• Others

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Management of Protein/Energy Malnutrition

• Estimating requirements

• wt(kg) x (kcal/kg for ht age) x (1 additional
  factors) i.e.
• Blistering 40 BSA 0.5,100 BSA 0.95
• Sepsis mild 0.2, Mod 0.4, severe 0.8
• Catch up growth .1 - .2
• Birge, K, J Amer Dietetic Assoc 1995 95575-579

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Management of Protein/Energy Malnutrition

• Infants
• High calorie infant formulas or supplements
• 24 26 kcal/oz formula
• Home prepared baby foods
• Add oil or glucose polymers
• Beware of osmolality, renal solute load
• Soft nipples

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Management of Protein/Energy Malnutrition

• Children and adults
• Soft or blenderized foods if needed
• Encourage high calorie foods
• Add fats (butter, oils) to foods
• Frequent meals and snacks
• Milkshakes, instant breakfast drinks, etc.
• Commercial high calorie formulas
• Boost Plus
• Jevity

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Vitamin and Mineral Supplements

• Multivitamins
• Because there is evidence for deficiency of
  several vitamins and minerals, all patients with
  RDEB should be given a daily multivitamin
• Dose 1-2 X the recommended daily allowance
  (RDA)

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Vitamin and Mineral Supplements Zinc

• Zinc is necessary for wound healing and required
  in larger amount in states of chronic
  inflammation
• RDA (oral) elemental Zn
• Birth 6 mos 3 mg
• 6 12 mos 5 mg
• 1 10 yrs 10 mg
• gt 11 yrs 15 mg
• Zinc Deficiency
• Oral
• 0.5 - 1 mg/kg/day daily or divided tid

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Zinc Preparations
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Vitamin and Mineral Supplements Iron

• Iron is needed for anemia
• Dosage for Children (elemental Fe)
• Severe Anemia 4 6 mg Fe/kg/day tid
• Mild/Moderate Anemia 3 mg Fe/kg/day qd-bid
• Prophylaxis 1-2 mg Fe/kg/day
• Dosage for Adults (FeSO4 )
• 325 mg po bid qid
• It is not clear whether iron is absorbed well in
  RDEB

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Difficulty in Diagnosing Iron Deficiency

• Obvious blood loss
• Anemia of chronic inflammation
• Inflammation lowers serum iron levels (iron moves
  into hepatic tissue)
• Ferritin is acute phase reactant, nay be falsely
  elevated
• Erythropoietin levels may be helpful if low for
  degree of anemia, replacement may help

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Iron Preparations
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Iron Preparations cont.
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Iron Preparations cont.
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Vitamin and Mineral Supplements Selenium

• Evidence for Se deficiency in 62 of RDEB
  patients in one study, gt50 in another
• Evidence for Se deficiency causing fatal dilated
  cardiomyopathy
• Reversible if supplemented early, but not late
• 4 case reports of deaths in RDEB
• Should we be screening for and treating Se
  deficiency in RDEB?
• Melville,C et al, Br. J Dermatol 1996 135603-606

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Other Nutritional Supplements

• Vit C
• Noted to be low in several studies
• No clinical evidence of scurvy
• Should we measure?
• Carnitine
• Also associated with dilated cardiomyopathy
• Not noted to be low in EB
• Should we measure?

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Other Nutritional Supplements cont.

• Levels of other vitamins which have been found to
  be low in RDEB
• Vit A
• Vit B6
• Folate
• Should these be measured and specifically
  replaced?

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Lifestyle and Psychological Aspects of
Malnutrition

• Compliance with caloric intake, nutritional
  supplements, and adequate use of a feeding
  gastrostomy is a problem with many patients
• Education was not effective in one study
• Some patients may use intake of food as a tool
  for control
• Would psychological intervention be helpful?
• Allman, S, et al, Ped Dermatol 1992 9231-238

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Routine Blood Tests every 6-12 Months Cincinnati
Childrens EB Center

• Complete Blood Count (CBC)
• Erythrocyte Sedimentation Rate (ESR)
• C Reactive Protein (CRP)
• Iron, Iron Binding Capacity, Ferritin
• Zinc
• Liver Function Tests ( including albumin)
• Renal Panel (BUN, Creatinine, Electrolytes)
• Calcium, Phosphorus, 25 (OH) Vit D
• Selenium

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Summary and Conclusions

• Malnutrition and its consequences are central
  causes of the morbidity of RDEB
• Surveillance for serum levels of vitamins and
  minerals on a regular basis is important
• Cooperative multicenter studies of large numbers
  of patients should enhance our understanding of
  what should be monitored and how supplementation
  is best implemented

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References

• Fine, JD, Tamura, T, Johnson, L, Blood and Trace
  Metal Levels in Epidermolysis Bullosa. Arch
  Dermatol 1989 125374-379.
• Allman, S, Haynes, L, MacKinnon, P, Atherton, DJ,
  Nutrition in Epidermolysis Bullosa. Pediatr
  Dermatol 1992 9 231-238.
• Birge, K, Nutrition Management of Patients with
  Epidermolysis Bullosa. J Amer Diet Assoc 1995
  95 575-579.

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References cont.

• Melville, C, Atherton, D, Burch,M, Cohn, A,
  Sullivan, I, Fatal Cardiomyopathy in Dystrophic
  Epidermolysis Bullosa. Br J Dermatol 1996 135
  603-606.
• Ingen-Housz-Oro, S, Blanchet-Bardon, C, Vrillat,
  M, Dubertret, L, Vitamin and Trace Metal Levels
  in Recessive Dystrophic Epidermolysis Bullosa.
  JEADV 2004 18 649-653.
• Haynes, L, Nutritional Support in Epidermolysis
  Bullosa,2002, International Network of Dietitians
  in EB, www.debra-international.org/professionsl/di
  et/nutsup/reference.htm

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References

• Fine, JD, Tamura, T, Johnson, L, Blood and Trace
  Metal Levels in Epidermolysis Bullosa. Arch
  Dermatol 1989 125374-379.
• Allman, S, Haynes, L, MacKinnon, P, Atherton, DJ,
  Nutrition in Epidermolysis Bullosa. Pediatr
  Dermatol 1992 9 231-238.
• Birge, K, Nutrition Management of Patients with
  Epidermolysis Bullosa. J Amer Diet Assoc 1995
  95 575-579.

31
References cont.

• Melville, C, Atherton, D, Burch,M, Cohn, A,
  Sullivan, I, Fatal Cardiomyopathy in Dystrophic
  Epidermolysis Bullosa. Br J Dermatol 1996 135
  603-606.
• Ingen-Housz-Oro, S, Blanchet-Bardon, C, Vrillat,
  M, Dubertret, L, Vitamin and Trace Metal Levels
  in Recessive Dystrophic Epidermolysis Bullosa.
  JEADV 2004 18 649-653.
• Haynes, L, Nutritional Support in Epidermolysis
  Bullosa,2002, International Network of Dietitians
  in EB, www.debra-international.org/professionsl/di
  et/nutsup/reference.htm