In the 2019 paper by Carlo Sabbà et al, rare diseases in the elderly: a new perspective for the specialist in geriatrics, Geriatric Care 2019; volume 5:8769, Carlo Sabbà (and co-authors) highlighted the challenges facing geriatric specialists managing rare diseases (RD).
Non-Alcoholic fatty liver disease (NAFLD) and it progressive form, non-alcoholic steatohepatitis (NASH), represent a growing global health concern. These conditions are charactized by the accumulation of fat in the liver, potentially leading to inflammation, fibrosis, cirrhosis, and even liver failure. Accurate diagnosis and assessment of disease severity are crucial for effective management and resource allocation.
In the realm of paediatric haemophilia care, advancements in treatments and the understanding of disease burdens have been a game-changer patients and their families. One noteworthy contributor to this progress is the comprehensive research initiative CHESS PEADS (Cost of Haemophilia in Europe, a Socio-economic Survey). This article explores the significant findings and implications of CHESS PAEDS and discusses the need for further research to shed light on the evolving landscape of paediatric haemophilia care and aid patient access.
Gaucher disease (GD) is a rare lysosomal storage disorder that affects individuals due to a genetic mutation resulting in the dysfunction or absence of the enzyme 'glucocerebrosidase.'
Dementia is an umbrella term covering symptoms affecting memory, movement, and thinking ability. It impacts the way a person speaks, thinks, feels, and behaves. Based on symptoms or causative factors, dementia can be subdivided into several types.
Sickle cell disease (SCD) is a prevalent genetic blood disorder that affects millions of people worldwide. Although it occurs globally, the majority of SCD cases are found in sub-Saharan Africa and Southeast Asia(1). Our article highlights the global burden of SCD, the challenges faced by individuals with the disease, the current treatment landscape, and the importance of raising awareness and improving access to care.
Symptoms include headaches, nausea, vomiting, personality changes, seizures, and cognitive dysfunction. While the exact cause of GBM is not clear, it occurs more frequently in individuals with genetic conditions such as tuberous sclerosis, Turcot syndrome, and neurofibromatosis type I.