European journal of internal medicine
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Eur. J. Intern. Med. · Feb 2023
Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.
Lysosomal storage disorders are a group of inborn errors of metabolism due to defects in proteins crucial for lysosomal function. Gaucher disease is the most common autosomal recessive lysosomal storage disorder due to mutations in the GBA1 gene, resulting in the lysosomal deficiency of glucocerebrosidase activity. Gaucher disease is characterized by the toxic accumulation of glucosylceramide in the reticuloendothelial system. ⋯ The phenotypic expression of Gaucher disease type 1 (GD1), the most common type, and chronic visceral ASMD may overlap for several signs or symptoms. Splenomegaly is detectable in approximately 90% of the patients in both conditions; however, since GD1 is more frequent than ASMD, clinicians are more prone to suspect it, often neglecting the diagnosis of ASMD. Based on previous experience, a group of experts in the clinical and laboratory diagnosis, management, and treatment of lysosomal storage disorders developed an algorithm for both GD1 and ASMD to support physicians, including primary care providers, internists, and specialists (e.g., hepatologists, hematologists, and pulmonologists) to suspect and differentiate GD1 and ASMD and to provide the appropriate referral.
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Eur. J. Intern. Med. · Feb 2023
Deep vein thrombosis symptoms and 30-day mortality in acute pulmonary embolism.
In patients with acute symptomatic pulmonary embolism (PE), the presence of concomitant lower-limb deep vein thrombosis (DVT) has been associated with a higher mortality rate. The prognostic significance of DVT symptoms among these patients remains uncertain. ⋯ Among patients with acute symptomatic PE and concomitant lower-limb DVT, those with DVT symptoms had an increased all-cause and PE-related mortality within 30 days. Assessment of DVT symptoms would assist with risk stratification of these patients.