clinic case of primary intestinal limphangiectasia

1. A RARE DISEASE TREATED
BY DIETARY INTERVENTION
Mariajosé Marroquín Cordón
Fellow Pediatric Gastroenterology, Hepatology and Nutrition

2. PATIENT MEDICAL HISTORY
● 2 years
10 months
● Male
● Spain
24-hour history of eyelid
edema, asthenia, and fever
• Healthy controlled
pregnancy
• Healthy parents
• Normal childbirth
• 41 WGA, 3580g
• Bottle fed
• Abnormal hearing
screening
• Congenital
Sensorineural
Hearing Loss
• Recurrent Wheezing

3. CASE TIMELINE
Episodic diarrhea with
vomiting and fever
7-10 days, watery diarrhea
with mucus, no blood
Gastroenterology Unit:
Ferropenic anemia
Lactose intolerance?
Multiple infectious diseases:
Acute Otitis media
Bronchiolitis
Gastroenteritis (C. Jejuni)
2 months 2 years
2 years
5 months
24-hour history of eyelid
edema, asthenia, and fever

4. PHYSICAL EXAMINATION
Eyelid edema
Abdominal distension
Bloating
Peripheral edema
• Weigth: 12 kg (P9, -1,34DE)
• Length: 89 cm (P5, -1,67DE)
• Waterlow Index (peso): 95,27%
• Waterlow Index (talla): 93,60%
(OMS 2006/2007)
Nutritional Assessment:

5. COMPLEMENTARY STUDIES:
Stools:
• Negative for
infectious disease
• Alpha 1 antitrypsin
2,97mg/g
• Other causes of
chronic diarrhea
were ruled out
ER Laboratories:
• Hb 11.1mg/dl
• Platelets 608 × 109/L
• WBC 6.7 × 109/L
• Lymphocytes 2 × 109/L
• Glucose 83mg/dl
• Creatinine 0.37mg/dl
• Urea 25mg/dl
• Protein 35g/L
• Albumin 22g/L
• IgG 1660mg/L
• Vit D 15ng/ml
• Urine: NO proteinuria
• Normal Protein /
Creatinine index
Endoscopy:
• Normal upper and
lower endoscopy
• Normal
histopathology of
the sections
explored
Enteroscopy:
• Jejunum and Ileum
swelling and
whitening of the
intestinal villi.
• Histological findings:
Visible dilated
lymphatic vessels
distributed in the
lamina propria of the
intestinal mucosa of
jejunum and ileum,
and less in
duodenum.

6. PRIMARY INTESTINAL LIMPHANGIECTASIA
Enteroscopy:
• Jejunum and Ileum
swelling and
whitening of the
intestinal villi.
• Histological findings:
Visible dilated
lymphatic vessels
distributed in the
lamina propria of the
intestinal mucosa of
jejunum and ileum,
and less in
duodenum.
World J Gastroenterol 2022 June 14; 28(22): 2482-2493

7. TREATMENT = NUTRITIONAL INTERVENTION
Low LCT diet
MCT
supplementation
Essential fatty
acids
supplementation
High protein
intake
• Restriction of LCT <10g/ day initially with minimal
fat, cow’s milk protein‐based infant formula:
• Albumin infusions until edema and serum albumin
improves
• Feed by nasogastric tube and mouth

8. TREATMENT = NUTRITIONAL INTERVENTION
Low LCT diet
MCT
supplementation
Essential fatty
acids
supplementation
High protein
intake
• Minimal fat weaning solids were initially introduced
and gradually expanded aiming to keep the total
LCT intake <10 g/day.
• Attention was given to protein intake: very high
protein intake to ensure sufficient calories using
extra very low fat, high protein foods. Total 3-
4g/kg/day.
• Additional protein is needed to help maintain
plasma albumin levels with protein supplements
(Vegenat med, 1-2g/kg/day)
• MCT oil supplementation for energy source
Feed by mouth and gastrostomy tube

9. TREATMENT = NUTRITIONAL INTERVENTION
Low LCT diet
MCT
supplementation
Essential fatty
acids
supplementation
High protein
intake
• Ensure that the recommended amounts of
essential fatty acids are included in the diet once
the volume of complete infant formula is reduced.
• Fat‐soluble vitamin supplements (A, D, E) to meet
at least the reference nutrient intake for age.
Feed by mouth and gastrostomy tube
Oral nutrition supplementation
fortified with these two elements
(Peptamen Junior 1.5)
Difficult social context

10. OUTCOMES
Faecal α1‐antitrypsin levels (mg/g) Serum albumin (g/L)
Maintaining such a low intake of fat becomes
increasingly difficult as the child becomes older

11. OUTCOMES
Nutritional assessment
Weight (kg)
Height (cm)

12. ● Primary intestinal lymphangiectasia is a congenital disorder
characterized by leak of lymphatic fluid into the gut, leading to
protein loss.
● Treatment is by diet unless the lesion is localized and selective
surgical excision is possible.
● 63%–85% of paediatric cases having dietary intervention showed
improvement.
● The exact composition of the diet in terms of fat and protein
content is not reported.
● Currently, enteral nutrition play a fundamental role in the
management of these patients, by individualizing their treatment.
CONCLUSIONS

13. CREDITS: This presentation template was created by
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Do you have any questions?
mariajose.marroquin@sjd.es
THANKS