In 1882 the French physician Ernest Gaucher identified ‘his’ disease as a typical enlargement of the spleen, easily seen as an epithelioma but not being leukemia or any other kind of cancer. Nowadays we know it comes with an increased risk of hematological malignancies like multiple myeloma and hepatocellular carcinoma. If left untreated, at least.

Lately, in the world of Gaucher Disease (GD), there is a new kid on the block: Gaucheroma. What is it? In this post, I will try to get myself an answer to that.


A century later in 1982, the esteemed and beloved pathologist Robert E. Lee published a roundup of 275 cases of GD, with 100 spleens that were removed from them. He described:

“In addition to the fibrosis associated with small or large infarcts there are nodular lesions that are related to vascular malformations of the red pulp. These may measure up to 10.0 cm in diameter and they are dark purple nodules that bulge when sectioned. The parenchyma in these nodules is composed of numerous round spaces that contain Gaucher cells as well as blood cells and fibrous areas usually develop as the vascular areas become organized. … Any of these previously described nodules may be incorrectly considered to be neoplastic when in reality they are the result of distortion of splenic architecture by Gaucher cells.”

Lee continued that liver involvement in GD type 3 is a form of fibrosis that converts the parenchyma into small nodules. In the fibrous areas, there are numerous Gaucher cells. Others have described these cases as cirrhosis. In his view, adenopathy is not a feature of clinical illness. Lee closes his article with

“As we enter the second century of our knowledge of this disease we should keep Dr. Gaucher’s talent of making clinicopathological observations in mind as we search for clues to the better understanding of the various clinical forms of the disease.”

Other publications followed, mentioning these nodular lesions in spleens and livers, increasingly seen with imaging techniques like ultrasound and MRI.

In 2009, Poll and Von Dahl found an extensive accumulation of Gaucher cells within liver sinusoids and labeled it as hepatic Gaucheroma (Gaucher-cell pseudotumor).

Masses and lymphadenopathy

In 2002, Lim et al reported the case of a child with GD type 3 on ERT with a 5 cm mesenteric mass. Surgical biopsy revealed that it was a collection of lymph nodes infiltrated with Gaucher’s cells at the base of the mesentery, also confirmed histologically to be Gaucher’s cell infiltrates.

Fowler et al presented in 2006 two children with persistent abdominal lymphadenopathy whilst receiving ERT. Needle core biopsies showed they contained macrophages that do not form granulomas or classic Gaucher cells on light microscopy. It was assumed to be incomplete clearance, incomplete/partial enzyme replacement, or possibly an unusual response to a relatively small amount of storage material.

Another child with GD (type 3) was reported the following year by Burrow et al, as having developed progressive mesenteric and mediastinal lymphadenopathy. They interpreted it as poorly accessible, differentially responsive compartments in patients with Gaucher disease who are receiving enzyme therapy.

Yağci et al followed in 2009 with a 5-year-old with GD type 3 on ERT. She was initially presented with an ill-defined abdominal mass of 10 cm, palpable in the umbilical area. Ultrasound revealed multiple conglomerating mesenteric lymphadenopathies, some of which contained necrotic areas. Histopathological examination revealed diffuse infiltration of Gaucher cells.

Abdelwahab and SeifEldien reported in 2015 eight cases, some developing lymphadenopathy in association with type 1 GD. Their cohort developed mesenteric and mediastinal lymphadenopathy while on therapy for an average duration of 3 years.

In 2019, Tseng et al. reported from a regular abdominal MRI exam of a 3-year-old a 3.5 × 2.3 cm hypointense under T1 lobulated mass, at S5 and S6 in the liver. Clustered enlarged lymph nodes at the mesenteric and inguinal regions were also discovered during the regular checkup.

Recently, in 2022, Tantawy et al studied fifty children on ERT, of which 26 (60 GD1, 20 GD3) were confirmed to have abdominal lymphadenopathy (ALN). Their size was found to be significantly correlated with the disease severity (SSI) and LysoGB1. Histology was not determined. ALN was found in 80% of splenectomized children. They postulate that ALN can be considered as a marker of GD severity, and regard it as a potential sequel of high disease burden.

So, what is it?

To my understanding, nodular lesions in the spleen and liver are clusters of Gaucher cells, occasionally affecting the surrounding tissues. I wonder if the clusters are formed at sites that normally represent lymph nodes inside an organ. These “pseudotumor” disturbances are thought to increase the occurrence of local neoplasia, but I have not seen statistics of patients on treatment until now.

Gaucheromas outside the spleen and liver are only seen with patients on Gaucher treatment, so far being ERT. In general, these soft-tissue masses are regarded to be lymphadenopathies.

Overlooking gaucheromas inside and outside organs, it is my opinion that they should only be named as such when Gaucher cells are seen in them. Preferably we forget the term gaucheroma, and only use the terms Gaucher cell clusters or masses as Ramaswami et al suggest. The lesions and masses in Gaucher patients can be considered common and understandable, implying no reason for biopsy. Suspicion of neoplasia changes that, of course. Also, as a mass they can cause other serious complications including protein-losing enteropathy.

Their clinical relevance as such lies in their substrate storage, and it seems that only systemic intervention may influence that. (Additional) SRT or a chaperone might be an option, as Yano et al suggest too. I also wonder if these Gaucher cells can be released from the sites by somehow affecting their bonding to others or to the structure. Kim et al seem to support this view.


Tantawy, Azza Abdel Gawad, Amira Abdel Moneam Adly, Heba Mohamed Atif, Sherihane Said Madkour, and Nouran Yousef Salah. “Abdominal Lymphadenopathy in Children with Gaucher Disease: Relation to Disease Severity and Glucosylsphingosine.” Pediatric Hematology and Oncology 39, no. 4 (May 19, 2022): 304–17.
Mhanni, A.A., M. Kozenko, J.N. Hartley, M. Deneau, W. El-Matary, and C. Rockman-Greenberg. “Successful Therapy for Protein-Losing Enteropathy Caused by Chronic Neuronopathic Gaucher Disease.” Molecular Genetics and Metabolism Reports 6 (2016): 13–15.
Yano, Shoji, Kathryn Moseley, Neha Mahajan, Mikako Warren, and Linda Vachon. “Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas.” Journal of Pediatric Genetics 11, no. 1 (March 2022): 47–50.
Kim, Eun Na, Hyo-Sang Do, Hwangkyo Jeong, Taeho Kim, Sun Hee Heo, Yoo-Mi Kim, Chong Kun Cheon, et al. “Identification of a Novel Therapeutic Target Underlying Atypical Manifestation of Gaucher Disease.” Clinical and Translational Medicine 12, no. 5 (2022): e862.
Lee, Beom Hee, Dae-Yeon Kim, Gu-Hwan Kim, Kyung-Ja Cho, Hye-Kyung Yoon, and Han-Wook Yoo. “Progressive Mesenteric Lymphadenopathy with Protein-Losing Enteropathy; a Devastating Complication in Gaucher Disease.” Molecular Genetics and Metabolism, Program and Abstracts for the 2012 Meeting of the Society for Inherited Metabolic Disorders, 105, no. 3 (March 1, 2012): 522–24.
Fowler, D. J., M. A. Weber, G. Anderson, M. Malone, N. J. Sebire, and A. Vellodi. “Ultrastructural Features of Gaucher Disease Treated with Enzyme Replacement Therapy Presenting as Mesenteric Mass Lesions.” Fetal and Pediatric Pathology 25, no. 5 (January 1, 2006): 241–48.
Yağci, Begül, Özge Salor, Bilgehan Yalçin, Figen Gürakan, Şafak Güçer, and Münevver Büyükpamukçu. “Giant Lymphadenopathy Infiltrated by Gaucher Cells Mimicking Lymphoma.” Pediatric Blood & Cancer 52, no. 7 (2009): 870–71.
Burrow, T. Andrew, Mitchell B. Cohen, Ronald Bokulic, Gail Deutsch, Arabinda Choudhary, Richard A. Falcone, and Gregory A. Grabowski. “Gaucher Disease: Progressive Mesenteric and Mediastinal Lymphadenopathy Despite Enzyme Therapy.” The Journal of Pediatrics 150, no. 2 (February 1, 2007): 202–6.
Lim, Adrian K., Ashok Vellodi, and Kieran McHugh. “Mesenteric Mass in a Young Girl – an Unusual Site for Gaucher’s Disease.” Pediatric Radiology 32, no. 9 (September 1, 2002): 674–76.
Tseng, Szu-Yin, Dau-Ming Niu, Tzu-Hung Chu, Yi-Chen Yeh, Man-Hsu Huang, Tsui-Feng Yang, Hsuan-Chieh Liao, et al. “Very Rare Condition of Multiple Gaucheroma: A Case Report and Review of the Literature.” Molecular Genetics and Metabolism Reports 20 (September 2019): 100473.
Poll, Ludger Wilhelm, and Stephan vom Dahl. “Hepatic Gaucheroma Mimicking Focal Nodular Hyperplasia.” Hepatology 50, no. 3 (2009): 985–86.
Lee, Robert E. “The Pathology of Gaucher Disease.” In Gaucher Disease: A Century of Delineation and Research : Proceedings of the First International Symposium on Gaucher Disease, Held in New York City, July 22-24, 1981, by Robert J Desnick, Shimon Gatt, Gregory A Grabowski, and International symposium on Gaucher disease, 177–217. Progress in Clinical and Biological Research, v. 95. New York: A. Liss, 1982.
Ramaswami, Uma, Eugen Mengel, Abdelkrim Berrah, Moeenaldeen AlSayed, Alex Broomfield, Aimee Donald, Hadeel M. Seif El Dein, et al. “Throwing a Spotlight on Under-Recognized Manifestations of Gaucher Disease: Pulmonary Involvement, Lymphadenopathy and Gaucheroma.” Molecular Genetics and Metabolism, June 25, 2021, S1096-7192(21)00738-1.
Abdelwahab, Magy, and Hadeel M. SeifEldien. “Mesenteric and Mediastinal Lymphadenopathy in Egyptian Children With Gaucher Disease Types 1 and 3 Treated With Enzyme Replacement Therapy:” Journal of Pediatric Hematology/Oncology 37, no. 5 (2015): e316–22.


I am not a clinician nor otherwise medically educated. If you relate this post to your own health, please talk with your clinician about that.