A team of physicians described the early diagnosis and successful long-term care of a patient with severe lysosomal acid lipase deficiency (LAL-D)/Wolman disease from infancy until 5 years of age, as published in the Canadian Liver Journal.

The case as described details a female born to healthy French-Canadian parents after an uncomplicated pregnancy. When the baby was discharged, she began to develop severe diarrhea on formula feeding and started to vomit at 1 month. Lansoprazole was prescribed, which improved gastroesophageal reflux symptoms, but the patient’s diarrhea persisted. She developed hematochezia and was transferred to the pediatric intensive care unit.

Upon investigation, the patient was suspected to have necrotizing enterocolitis and was prescribed antibiotics. Her physicians also suspected Wolman disease and cystic fibrosis and initiated a genetic investigation. At the age of 2 months, the patient was discharged for 3 weeks with a nasogastric feeding tube.


Continue Reading

The patient was rehospitalized due to vomiting, moderate diarrhea, and lack of weight gain. Abdominal ultrasound revealed adrenal calcification with a mass effect on the left kidney and mild hepatosplenomegaly. Genetic studies confirmed a diagnosis of Wolman disease.

Read more about LAL-D epidemiology 

Her physicians initiated sebelipase alfa 1 mg/kg/wk. The dose was increased over time due to poor improvement to 4 mg/kg/wk. An endoscopy with colonoscopy revealed abnormal duodenal and rectal mucosa with the presence of yellowish infiltration and edema. The pathological report revealed mucosal infiltration with spurious histiocytes.

Two months later, the adrenal deficiency was diagnosed and the patient was treated with hydrocortisone. The patient received a Broviac catheter at the age of 2 years and experienced frequent infections until she became toilet-trained at the age of 3 years.

Her physicians initiated a strict low-fat diet, combined with parenteral nutrition with 0-5 g/d long-chain triglycerides, and added medium-chain triglyceride fat.

“[Parenteral nutrition] was decreased gradually from 7 to 3 d/wk in April 2020, but increased to 5 d/wk when hypoalbuminemia deteriorated to 12 g/L,” the authors wrote. “After the sebelipase alfa dose was increased to 4 mg/kg/wk, the albumin level increased to 24 g/L, allowing [parenteral nutrition] reduction to 3 d/wk.”

The patient had a gastrostomy performed. Currently, the patient continues to be on a low-fat diet and parenteral nutrition. As of December 2020, the patient was able to enjoy eating and is thriving, with her weight curve showing good progression.

According to the patient’s mother, plain-language communication with different members of the care team was essential. In addition, proper transfer of knowledge to family members and daycare facilities helped in sharing the burden of care.

Reference

Cossette A, Castilloux J, Bouffard C, et al. Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: infancy to age five. Can Liver J. Published online June 2, 2022. doi:10.3138/canlivj-2021-0041