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

BACKGROUND AND AIMS: Gaucher disease (GD) is one of the most common lysosomal storage diseases. It is characterized by the accumulation of glucocerebroside lipids in the macrophages, with liver, spleen and bone marrow frequently affected. The affected organs can develop tumor-like lesions (Gaucheromas), which are difficult to diagnose. We present the Gaucheromas and their ultrasonographic characteristics. METHODS: We selected Gaucheromas and their ultrasonographic characteristics found in the last 5 years during the periodical evaluation of 74 adult GD patients in Romania. All the patients had magnetic resonance imaging examination for comparison. A systematic review of all the Gaucheroma-related articles was performed to compare our results with the literature. RESULTS: Gaucheromas were found in 7 adult patients: 4 in the spleen, 2 in the liver and one affecting the bone. No malignancy ultrasound characteristics were found and neither on MRI exams. In the literature, 10 articles reported Gaucheromas, most of them in the liver and spleen in type 1 GD patients. All our patients were also type 1 GD, and the ultrasound aspect did not change during the 5 years follow-up. CONCLUSIONS: Gaucheromas can be found in any patient with GD. Malignancies have to be considered unless proven otherwise. Imaging characterization (ultrasound and MRI) are useful as histopathologic examination is difficult to obtain in all cases.

Increased Vascular Endothelial Growth Factor Serum Level and the Role of +936C/T Gene Polymorphism in Chronic Obstructive Pulmonary Disease.

Background and Objectives: Chronic obstructive pulmonary disease (COPD) represents a debilitating disease, with rising morbidity and mortality. Vascular endothelial growth factor (VEGF) plays a major role in angiogenesis, vascular permeability, and airway remodeling. The purpose of this study was to investigate the relationship between VEGF serum levels and VEGF +936 C/T gene polymorphism (rs3025039) with COPD, for the first time in a Romanian population. Materials and Methods: In total, 120 participants from Transylvania were included in this case-control study. Serum levels of VEGF were determined using an enzyme-linked immune-sorbent assay and rs3025039 was investigated by high molecular weight genomic deoxyribonucleic acid (DNA). Spirometric values, arterial blood gas analysis, and the Six Minute Walk Test (6MWT) outcome were also determined. Results: The serum level of VEGF was higher in the COPD group versus controls (p < 0.001), with a positive correlation with the 6MWT outcome. No significant difference was observed in the VEGF serum levels between VEGF +936C/T genotypes. There was no difference in the VEGF +936C/T genotype between COPD patients and healthy subjects (chi2 test p = 0.92, OR = 1.04, 95%CI = 0.41-2.62), but the presence of the T allele was significantly linked to the presence of COPD (chi2 test p = 0.02, OR = 2.36, 95%CI = 1.12-4.97). Conclusions: Higher VEGF serum levels were found in moderate and severe COPD and were positively correlated with the distance in the 6MWT. No significant difference was found between CC, CT, and TT genotypes of rs3025039 and the presence of COPD. The presence of the T allele was found to be linked to COPD and also to the degree of airway obstruction.

Alveolar proteinosis - an underdiagnosed condition in young people.

Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by an abnormal intra-alveolar accumulation of surfactant derived lipoproteinaceous compounds, leading to dyspnea and, in severe cases, to respiratory failure. The most common form of PAP is the auto-immune one. Secondary PAP has been recognized in myeloid leukemia, non-hematological neoplasms, lung infections or environmental exposure to noxious particles. Mutations in several genes (such as MARS, SFTPB, TTF1) are responsible for the alteration of surfactant production. Diagnosis tools include high-resolution computed tomography, bronchoalveolar lavage. Although over the past 20 years the pathophysiology of PAP has become more clear, the therapeutic strategies still need improvement. A national programme for patients with PAP might be useful in Romania.

Gaucher disease - bone involvement.

Gaucher disease (GD) is a rare genetic disease caused by the enzymatic deficiency of beta-glucocerebrosidase. This will lead to the accumulation of sphingolipids in various organs, such as liver, spleen, bone marrow. Bone involvement is frequent in Gaucher patients, leading to bone pain, necrosis and even fractures or growth deficiency in children, with painful surgeries and progressively decreasing quality of life. The early treatment initiation in symptomatic patients is very important in lowering bone complications frequency and improve general status. We present the case of a young patient whose first manifestation of GD was a bone cystic lesion and the clinical evolution until treatment.