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Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is a rare disorder, characterised by dilated lymphatics supplying the small intestinal wall resulting in lymph leakage into the small-bowel lumen. This protein-losing enteropathy leads to lymphopenia, hypoalbuminaemia and hypogammaglobinaemia. PIL is generally first diagnosed before 3 years of age, rarely in adulthood. Here, we present the case of a 13-year-old Emirati boy with protein-losing enteropathy secondary to intestinal lymphangiectasia refractory to the standard treatment. He was diagnosed initially at 18 months of age and presents with recurrent episodes of lower limb and scrotal swellings and diarrhoea. He requires 4–5 albumin and immunoglobulin infusions per year to control his symptoms. Most of the standard therapies tried so far failed to keep him from remissions. Moreover, he has a persistently positive helicobacter gastritis not controlled by aggressive eradication therapy. He is currently on low-fat diet and sirolimus drug therapy.
Keywords: Gastroenterology, hypoalbuminaemia, paediatrics, primary intestinal lymphangiectasia, protein-losing enteropathy
| Introduction | |  |
Primary intestinal lymphangiectasia (PIL) (Waldmann's disease) is a rare disorder with unknown aetiology and prevalence. Less than 500 cases have been reported worldwide. Furthermore, it is a progressive disease managed by dietary restrictions and immunosuppression, but there are no specific guidelines when these measures fail. We present the case of a young boy with recurrent relapses as he does not respond to the treatment he received. Such cases are a challenge for the medical fraternity as they try to devise a successful management plan to give him a better life ahead.
| Case Report | | |
A 13-year-old boy, known case of protein-losing enteropathy secondary to intestinal lymphangiectasis, presented with bilateral lower limbs swelling of 1-week duration. It began in the left leg and progressed to the right leg associated with painful scrotal swelling of 1-day duration. At 1 month of age, he was admitted with pneumonia followed by recurrent respiratory tract infections until 8 years of age. At 17 months, he developed acute gastroenteritis with abdominal distention and scrotal swelling. The investigations showed hypoalbuminaemia with raised faecal Alpha 1 anti-trypsin levels and endoscopy showed Helicobacter pylori infection. Subsequently, the family travelled to the United Kingdom, and the diagnosis of primary intestinal lymphangiectasis was made at around 18–20 months of age on the basis of magnetic resonance imaging and histopathology.
Over the past few years, he had relapses with oedema over the lower limbs, abdomen and scrotum associated with excruciating pain. Since 2008, the patient had a persistent H. pylori-positive gastroduodenal biopsy even with eradication therapy. In 2018, he required intravenous albumin monthly to control his symptoms. The patient has allergy to milk and egg and insignificant family history.
Physical examination revealed a vitally stable child with body mass index of 27.7 kg/m2 with bilateral lower limb oedema more on the left than right, scrotal swelling and mild tenderness on the abdomen and genitalia. Other systemic examinations were unremarkable.
Laboratory investigations
Gastroduodenoscopy with biopsy in 2010 showed mild gastritis with numerous H. pylori organisms. Similar results were noted in the year 2008 and 2018.
Bone mineral densitometry done in August 2017 showed osteoporosis of lumbar vertebrae and both femoral heads.
Capsule endoscopy done in July 2018 showed few white spots in the duodenum and proximal jejunum. Distal jejunum showed patchy areas of abnormal, white and thick villi, suggestive of lymphangiectasia, as shown in [Figure 1]. Ileal area had poor visibility due to cloudy fluid, in three areas serpiginous yellow lesions were seen. Normal terminal ileum and colon. | Figure 1: Capsule endoscopy showing distal jejunum with prominent villi with white heads suggestive of intestinal lymphangiectasia
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The recent laboratory investigations done in December 2019 include total bilirubin 0.1 mg/dl, alkaline phosphatase 265 U/L, total protein 4.6 g/dl, serum albumin 2.3 g/dl, calcium 7.6 mg/dl and persistently low immunoglobulin (Ig) levels with IgG 3.09 mg/dl, IgA 0.6 mg/dl and IgM 0.54 mg/dl.
Management
He was started on albumin and Ig infusions to maintain normal serum levels. On average, he receives 3–4 infusions per year. He is also on a strict medium-chain-triglyceride based low-fat diet. In December 2019, the patient travelled to the United States and was started on a trial of sirolimus for 5 months, currently he is on it. Our patient is taking osteocare (Calcium-magnesium-Vitamin D3-zinc) and Vitamin D (D2 + D3) for his osteoporosis.
Earlier, a trial of exclusive elemental diet, heparin and immunosuppressive therapy (prednisolone + azathioprine) was given which did not work. He also had multiple courses of helicobacter eradication therapy since 2008, but is still persistently positive.
| Discussion | | |
PIL is a rare disorder of unknown aetiology and prevalence due to the obstruction of the intestinal lymphatic vessels and loss of lymph fluid in the gastrointestinal tract.[1] It is generally diagnosed before 3 years of age,[2] and our patient was diagnosed by 18 months. Familial cases are reported rarely.[2] Around 95% of PIL is manifested by oedema of lower limbs, face and genitalia due to hypoalbuminaemia from exudative enteropathy.[3] Additional symptoms of fatigue, abdominal pain, nausea, vomiting and weight loss, inability to gain weight and growth retardation can also be presented.[4],[5],[6] In a case report by Mari et al., a 10-year-old boy with diarrhoea and abdominal pain[7] with a ultrasound scan revealing growing cystic mass was later confirmed to be intestinal lymphangiectasia through histopathology.[8] Celiac disease and iron deficiency anaemia secondary to ulcers in the small intestine have also been reported.[9],[10]
It is crucial to differentiate it from enteropathy-associated T-cell lymphoma, Whipple disease, Crohn disease, sarcoidosis, tuberculosis and systemic sclerosis due. The confirmatory investigations include 24-h stool alpha-1 antitrypsin clearance with endoscopic observation of dilated intestinal lacteals with the corresponding histology of intestinal biopsy specimens; video capsule endoscopy is useful when these are inconclusive.[2] However, in our case, apart from a raised faecal alpha 1 antitrypsin levels, his initial endoscopy showed persistent H. pylori. Later on diagnosis was confirmed from the UK through histopathology.
The cornerstone of the treatment for PIL is the conservative management. Dietary intervention with a high-protein and low-fat diet with medium-chain-triglyceride supplementation is more effective in children.[11] The need for dietary control is permanent as the patient shows reappearance of clinical and biochemical findings after low-fat diet withdrawal. Pharmacological treatment, including octreotide and tranexamic acid, were proven to be effective only in few case reports.[12] Surgery may be successful if fibrotic changes of small bowel cause partial mechanical obstruction.[13]
The prognosis is largely variable depending on the age of onset, extent and severity of disease and response to therapy. For instance, the outcome can be life-threatening with pleural or pericardial effusions or with malignant complications. Moreover, several B-cell lymphomas confined to the gastrointestinal tract have also been reported. Out of a statistical analysis of 84 cases in Jie wen et al., four cases (5%) had a malignant transformation of lymphoma with an elevated IgE level with average time from PIL onset to lymphoma diagnosis being 31 years. Thus, it was concluded that IgE levels should be monitored periodically since it could be an the indication of malignancy.
| Conclusion | | |
In conclusion, we present the case of a young boy with intestinal lymphangiectasis, currently on medium-chain-triglyceride based low-fat diet and sirolimus medication as a 5-month course with albumin and IG infusions when required. Furthermore, he does not show improvement with the standard treatment protocol of intestinal lymphangiectasis. A specialised management plan needs to be designed for him to have a better standard of life.
Statement of ethics
The parent (mother) has given a written consent to publish this case (including the publication of images).
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal parent has given his consent for images and other clinical information to be reported in the journal. The parent understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
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| 13. | Rust C, Pratschke E, Hartl W, Kessler M, Weibecke B, Sauerbruch T, et al. Fibrotic entrapment of the small bowel in congenital intestinal lymphangiectasia. Am J Gastroenterol 1998;93:1980-3. |
Correspondence Address:
Khadeeja Mohammed,
Medical Ducation Department, Dubai Health Authority, Rashid Hospital, Dubai
UAE
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/HMJ.HMJ_23_20
[Figure 1] |
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