Although rare, aneurysms of the splenic artery are most likely underreported among patients with Gaucher disease, a case report study says.
The case report, “Splenic Artery Aneurysms, a Rare Complication of Type 1 Gaucher Disease: Report of Five Cases,” was published in the Journal of Clinical Medicine.
Gaucher disease, one of the most common lysosomal disorders, is caused by abnormal production of an enzyme called beta-glucocerebrosidase, which degrades a fat substance called glucocerebroside.
Glucocerebroside accumulates inside immune cells called macrophages, which in turn become Gaucher cells, present in the liver, spleen, bone marrow, and nervous system. As a result, Gaucher patients usually develop anemia, an abnormally large liver and spleen, bone disease, delayed puberty, and delayed growth before age 20.
In type 1 Gaucher disease (GD1), the most common form of Gaucher, besides the typical symptoms of the condition, patients may also have other health complications, including Parkinson’s disease, pulmonary hypertension, liver cirrhosis and splenic artery aneurysms (SAA; abnormal widening of the artery that supplies blood to the spleen caused by weakness in the blood vessel’s wall).
Although spleen enlargement in Gaucher patients has been linked to SAAs, only two studies so far have reported this condition.
In this case report, researchers described the cases of five GD1 patients (three men and two women) with SAA. All patients underwent extensive abdominal cavity imagery, including ultrasonography, computed tomography (CT) scans, and magnetic resonance imaging (MRI), according to the recommendations for GD1.
All patients had spleen enlargement and moderately low platelet counts. Four also presented bone disease manifestations at the time of diagnosis. Three patients were treated with enzyme replacement therapy (ERT) before being diagnosed with SAA; the other two started ERT only after being diagnosed with SAA. (ERT is a treatment in which a faulty enzyme is replaced by a healthy one to compensate for its lack of activity).
ERT ameliorated the platelet count and spleen enlargement in all patients. The size of the SAA increased for one of the patients (patient 3) and remained stable for two others (patients 4 and 5).
One of the patients (patient 1) died from bleeding caused by SAA rupture. After being diagnosed with four different SAAs, patient 2 underwent surgery to remove the spleen. Patient 4 underwent embolization (a procedure to block blood vessels’ circulation, used to prevent abnormal bleeding). Patients 3 and 5 refused both options and are being monitored.
“Aneurysms of the splenic artery are rare in Gaucher disease but are probably greatly underreported,” the researchers said.
“Despite the absence of consensus on the therapeutic management of these aneurysms and particularly those associated with GD, spectacular progress in radiological techniques has been made — alongside improving treatment choices in Gaucher disease. A coordinated initiative in the field may facilitate risk stratification and determine whether aneurysms arising in a particular context or disease stage will expand and whether specific therapy can mitigate this hazard,” they concluded.