Introduction Cystic fibrosis (CF) is a complex, inherited disorder that primarily affects the lungs and digestive system, but it can also impact other organs such as the liver, sinuses, and reproductive system. The disease is characterized by the production of…
Introduction Ehlers-Danlos syndrome (EDS) is a group of rare, inherited connective tissue disorders characterized by joint hypermobility, skin that is unusually stretchy or fragile, and a tendency to bruise easily. The severity and specific symptoms can vary widely depending on…
Introduction Hereditary transthyretin amyloidosis, sometimes known as Skellefte disease, is a rare genetic disorder in which abnormal protein deposits (amyloid) build up in the body’s tissues and organs. This condition can affect the nerves, heart, kidneys, and other organs, leading…
