Multidisciplinary Management of Fabry Disease: Current Perspectives.

Fabry disease (FD) is a rare, recessive X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (α-GalA) caused by a gene variant. The progressive accumulation of the glycosphingolipid globotriaosylceramide (Gb3) in organs such as skin, kidney, brain, joints, vascular walls and eyes are responsible for the wide spectrum of clinical manifestations, often unspecific. In result, clinically relevant and life-threatening complications, such as malignant ventricular arrhythmia, sudden cardiac death, end stage kidney failure and stroke may occur.

Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.

Background: Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatology is rare. The majority of children may show non-specific symptoms, including in the musculoskeletal system.

The importance of transition from pediatric to adult rheumatology care in juvenile idiopathic arthritis.

: Juvenile idiopathic arthritis (JIA) is the most common rheumatic inflammatory condition in childhood. The long-term morbidity, mortality, and quality of life have improved with the earlier use of disease-modifying drugs (DMARDs) and the availability of biology disease-modifying drugs (bDMARDs). Despite the improvement of treatment, around 50% of the patients reach adulthood with articular and/or extra articular disease activity.

Predicting lupus flares: epidemiological and disease related risk factors.

: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder, characterized by a relapsing and remitting pattern of disease activity in majority of the patients. : This narrative review provides an overview of flare definition, major flare mimics, and the burden of flares in SLE. The authors highlight epidemiology and disease-related risk factor for flares and discuss strategies to reduce flares in SLE.

Chronic inflammatory demyelinating polyradiculoneuropathy associated with systemic lupus erythematosus.

Background: Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) is an uncommon subtype of peripheral neuropathy (PN) and especially when associated with systemic lupus erythematosus (SLE). There are few reports characterizing PN-associated to SLE, in particular CIDP. This study reviewed the frequency and profile of SLE-related CIDP in our cohort and in the literature and propose a treatment scheme for CIDP associated with SLE.