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This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 from 10 Spanish hospitals were enrolled in the study (14 men, 5 women). The median age at disease onset and diagnosis was 1 and 1.2 years, respectively, and the mean age at follow-up completion was 12.37 years (range: 1–25 years). Most patients exhibited splenomegaly (18/19) and hepatomegaly (17/19) at the time of diagnosis. The most frequent neurological abnormalities at onset were psychomotor retardation (14/19) and extrinsic muscle disorders (11/19), including oculomotor apraxia, supranuclear palsy, and strabismus. The L444P (c.1448T>C) allele was predominant, with the L444P (c.1448T>C) homozygous genotype mainly associated with visceral manifestations like hepatosplenomegaly, anemia, and thrombocytopenia. All patients received enzyme replacement therapy (ERT); other treatments included miglustat and the chaperone (ambroxol). Visceral manifestations, including hepatosplenomegaly and hematological and bone manifestations, were mostly controlled with ERT, except for kyphosis. The data from this study may help to increase the evidence base on this rare disease and contribute to improving the clinical management of GD3 patients. [ABSTRACT FROM AUTHOR]

Dermatomyositis is a systemic vasculopathy mainly affecting skin, muscle and lung, but may affect the gastrointestinal tract. We aim to describe clinical characteristics of patients with severe gastrointestinal involvement related to dermatomyositis in our center and medical literature. We retrospectively analysed these patients in our center, including cases of erosions/ulcers, perforation or digestive bleeding. Reported cases from April 1990 to April 2021 were reviewed through PubMed and Cochrane. From our cohort (n = 188), only 3 presented gastrointestinal compromise. All were women (10, 46 and 68 years). The initial symptom was abdominal pain and all had ≥2 episodes of digestive bleeding. All died due to complications of gastrointestinal involvement. Available pathological samples showed vascular ectasia. From the literature review (n = 50), 77% were women with a mean age of 49 years and the main symptom was abdominal pain (65%). All presented active muscular and cutaneous involvement at complication diagnosis. Mortality was 41.7%. The underlying lesion was perforation or ulcer (n = 22), intestinal wall thickening (n = 2), macroscopic inflammation (n = 2) or intestinal pneumatosis (n = 15). In 13 cases, vasculitis was described. Gastrointestinal involvement in dermatomyositis denotes severity, so an early intensive treatment is recommended. Pathological findings suggest that the underlying pathophysiological mechanism is a vasculopathy and not a true vasculitis. [ABSTRACT FROM AUTHOR]