Rare Case Leads Researchers to Suggest Gaucher Disease May Trigger Lupus; More Studies Needed

Rare Case Leads Researchers to Suggest Gaucher Disease May Trigger Lupus; More Studies Needed

A case of a woman with Gaucher disease who was also diagnosed with systemic lupus erythematosus has raised questions about whether the two conditions may be related.

But researchers behind the study, titled “Gaucher disease and Lupus: A rare association?” published in the journal Nefrologia, admit that to prove that such a link really exists, more studies of both diseases are needed.

Researchers from the Hospital Center of Algarve in Portugal described a 32-year-old woman of European descent who had been diagnosed with Gaucher disease type 1 at age 17. Her grandmother also had Gaucher and she had an uncle with lupus and a cousin with rheumatoid arthritis.

When the woman was 30, she developed a butterfly rash on her face — the most typical sign of lupus — and eczema on the chest after sun exposure. A year later, she developed a range of symptoms, including weakness, nausea, weight loss, hair loss, muscle and knee pain, oral ulcers, Raynaud syndrome and arterial hypertension.

Lab tests showed she had anemia and lacked both platelets and white blood cells. She also had signs of kidney problems and tested positive for autoantibodies, and had other immune-related changes.

When doctors performed an ultrasound, the kidneys were normal-sized, but they again spotted changes that indicated kidney disease. The liver and spleen were enlarged, and her heart tissue was thicker than normal. Doctors noted that her bones looked abnormal.

This led the clinical team to perform a kidney biopsy that, together with other symptoms, led doctors to conclude that she had lupus nephritis — the scientific term for lupus kidney disease.

The woman received treatment according to international guidelines, and was able to leave the hospital after one month. She had improved even more six months after being discharged.

Although kidney conditions are rare in Gaucher disease patients, earlier studies have shown that when glucocerebroside starts accumulating in kidney cells, the process may trigger the activation of immune cells called macrophages. Yet other studies show that macrophage activation is far from the only immune reaction that characterizes Gaucher.

Based on this, researchers argued that the immune changes in Gaucher disease may trigger the development of lupus. Such a link, however, needs to be proven in future studies.