Rare Case: Patient Diagnosed With LAL-D Through Endoscopy

The initial discovery of multiple yellowish, elevated, and coalescent lesions during an endoscopy resulted in a diagnosis of lysosomal acid lipase deficiency (LAL-D), a case published in Gastrointestinal Endoscopy found. The lesions were detected in the second duodenal portion of the endoscopy.

The patient was previously diagnosed with Whipple disease based on previous endoscopy results and had a history of abdominal pain and diarrhea. When treatment with sulfamethoxazole and trimethoprim did not improve the condition, the patient was evaluated with another endoscopy where the lesions were then discovered.

The pathological anatomy of the lesions revealed xanthomatous macrophage infiltration, which indicated duodenal xanthomas. None of the observed macrophages was periodic acid-schiff-positive, however, which was counter indicative of Whipple disease.

Further laboratory analysis revealed normal liver biochemistry except for dyslipidemia. The patient’s total cholesterol was 210 mg/dL with low-density lipoprotein of 132 mg/dL, high-density lipoprotein of 25 mg/dL, and triglycerides of 184 mg/dL.

Read more about LAL-D diagnosis

Based on these findings and the history that 2 first-degree relatives were also diagnosed with Whipple disease, the patient’s lysosomal acid lipase levels were tested and found to be exceptionally low (3 pmol/h/μL; reference values, 69-203 pmol/h/μL). These low values and the previous results were compatible with a diagnosis of LAL-D.

“Antibiotics were discontinued, the patient and her relatives are being followed up and treated for disorders related to the accumulation of cholesterol esters, which are typical of this disease,” the authors said.

The patient in the study was a 29-year-old female. She had reported intermittent diarrhea and abdominal pain for 7 years. Two years after symptom onset, the patient was diagnosed with Whipple disease.

LAL-D is a rare inherited metabolic disorder caused by mutations in the LIPA gene. The mutation leads to the reduction or absence of enzymes that normally break down cholesteryl enzymes and triglycerides, leading to their accumulation in tissues of the body and subsequent symptoms.

Reference

Torres LD, Bonilha DQ, Diaz RG, de Carvalho RB, Montes CG. A rare case of lysosomal acid lipase deficiency diagnosed by endoscopy. Gastrointest Endosc. Published online December 17, 2021. doi:10.1016/j.gie.2021.12.004