Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy

Abstract

Soft‐tissue masses are rarely seen in Gaucher disease. We previously reported a case of a 30‐year‐old patient with Gaucher disease type 3, receiving β‐glucocerebrosidase enzyme replacement therapy (ERT), who presented with slowly enlarging masses infiltrated with Gaucher cells along her back. Substrate reduction therapy introduced in addition to ERT, resulted in significant reduction of the large masses.

Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas

“…This may partially explain why Gaucheromas are not responding to ERT. 8 Based on our observation, eliglustat was successfully taken up by Gaucheromas in the proposita as well as the case reported by Mahajan et al 6 Hearing loss has been described in patients with GD, particularly common in school age children with type 3. It has been thought that Gaucher cell infiltration in the middle ear results in bilateral conductive hearing loss and accumulation of glucocerebroside in the inner hair cells gives rise to sensorineural hearing loss.…”

“…In conclusion, an adult case of GD type 3 with a mesenteric Gaucheroma is presented. Although combination therapy with ERT and SRT with miglustat did not show clear effects on calcified mesenteric Gaucheromas in a case reported by Mhanni et al, 5 our case as well as the case reported by Mahajan et al 6 showed an encouraging effectiveness of combination therapy with eliglustat. Since Gaucheromas can cause serious clinical consequences, prevention of the development of Gaucheromas is important.…”

“…We also reported an adult patient with GD type 3 who developed large soft tissue Gaucheromas which were promptly reduced with combination therapy of imiglucerase and eliglustat. 6 These two cases suggest that combination therapy with imiglucerase and eliglustat may inhibit Gaucher cells from growing to develop Gaucheromas. Although Mhanni et al reported that combination therapy with SRT with miglustat and ERT was not effective in their case with calcified mesenteric lymphadenopathy, our patient presented here clearly has demonstrated the effectiveness of combination therapy with eliglustat.…”

A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy

“…Currently there is no effective and targeted treatment for Gaucher tumor with PLE. Some studies propose that increasing the dose of ERT or combining substrate inhibitors (SRT) might be effective [ [12] , [13] , [14] ]. Consequently, the patient's imiglucerase dosage was adjusted to 90-120 U/kg every two weeks, resulting in a notable improvement in diarrhea symptoms during follow-up.…”

Hepatic, Splenic, and Bone Marrow Gaucheromas: A Case Series and Systematic Literature Review

“…Literature search results are summarized and presented in Table I [11][12][13][14][15][16][17][18][19][20]. Besides single cases that were reported, only 4 articles included more patients that were monitored and only 3 articles reported more than one Gaucheroma.…”