Rare but Benign Complication of Gaucher Disease Seen in Case Study

Rare but Benign Complication of Gaucher Disease Seen in Case Study

In a very rare case, a Gaucher disease patient developed mesenteric lymphadenopathy, an inflammation of the lymph nodes in the membrane that connects the bowel to the abdominal wall, which researchers in Beijing suggest is a benign complication of Gaucher and one that needs to be better understood.

The study, “Gaucher Disease with Mesenteric Lymphadenopathy: A Case with 13-year Follow-up,” was published in the Chinese Medical Journal. According to Dr. Zi-Xing Ye and colleagues at Peking Union Medical College Hospital, this is an extremely rare occurrence with only 26 cases reported worldwide.

Based on this case, and previous reports, the researchers concluded that mesenteric lymphadenopathy is a benign complication of Gaucher but one that needs to be better understood in patients because of the dangers of aggressive treatment. “Misdiagnosis as a malignant tumor and incorrect treatment can be avoided with increased recognition of this rare manifestation,” they wrote in the report.

The case involves a 17-year-old patient, diagnosed with Gaucher disease at the age of 1 through Gaucher cells identified in her bone marrow and decreased activity of the enzyme β-glucosidase in her white blood cells. She was put enzyme replacement therapy, standard treatment this disease, and remained on that treatment.

But at age 4, her abdominal lymph nodes were seen to be enlarged, and she began to be followed closely. The size, number, and calcification of these lymph nodes continued to increase. She subsequently developed mild edema, or abnormal accumulation of fluid in both ankles, as well as a large hard mass in her abdomen, which was confirmed through a CT scan to be originating from lymph nodes.

A biopsy was deemed unnecessary due to the explicit clinical diagnosis, as was surgery due to its high risk. Six months later, the edema in her ankles disappeared without medication but the abdominal mass remained.

The authors noted that surgical removal of enlarged lymph nodes in Gaucher disease has only been attempted in three patients, and never been completed due to its excessive risks.

“We suggest that surgical intervention should be considered only when malignancy is suspected or when severe space-occupying effects are observed,” they concluded.

They added that further case studies are needed to better understand the outcomes of mesenteric lymphadenopathy in Gaucher disease.