Goodpasture Syndrome Anti-glomerular basement membrane disease (anti-GBM disease), also known as Goodpasture disease, is a rare, autoimmune, small-vessel vasculitis affecting blood vessels of the lungs and kidneys that results in a pulmonary-renal syndrome. A pulmonary-renal syndrome is defined as the coexistence of pulmonary alveolar hemorrhage (i.e., triad of hemoptysis, diffuse alveolar infiltrates, and anemia) and …
9 Interesting Facts of Glanzmann Thrombasthenia Glanzmann thrombasthenia is a rare bleeding disorder caused by defective platelet membrane glycoprotein IIb/IIIa (integrin αIIbβ3), resulting in failure of platelets to aggregate in response to stimuli Characterized by a lifelong tendency for mucocutaneous bleeding with an elevated risk of fatal bleeding episodes Symptoms, which often manifest shortly after …
8 Interesting Facts of Gilbert Syndrome Gilbert disease is a hereditary condition caused by a mild form of genetic deficiency of UDP-glucuronyl transferase 1A1 (UGT1A1), an enzyme metabolizing bilirubin through glucuronidation, resulting in impaired bilirubin metabolism and clearance Characterized by intermittent, mild, asymptomatic jaundice in the absence of hemolysis or underlying liver disease Laboratory tests …
Giant Cell Myocarditis Giant cell myocarditis (GCM) is a rare but frequently fatal inflammatory disorder that affects the myocardium characterized by widespread infiltration in the myocardial tissue of multinucleated giant cells. The myocardiocyte necrosis present is not secondary to ischemic events or cardiac rejection in the setting of transplantation. Giant cells are abnormal masses produced …
Familial Adenomatous Polyposis Familial adenomatous polyposis is a genetic disorder that causes cancer of the large intestine (colon) and rectum. People with this condition develop more than 100 non-cancerous growths (polyps) in their colon. Familial adenomatous polyposis (FAP) is a highly penetrant, autosomal-dominant condition characterized by hundreds of colorectal adenomatous polyps that inevitably progress to cancer. …
9 Interesting Facts of Follicular Lymphoma Follicular lymphoma is an indolent (low-grade) form of non-Hodgkin lymphoma arising from germinal center B cells Chronic, essentially incurable, illness characterized by a relapsing and remitting pattern of nodal and bone marrow involvement; in a minority of patients, spontaneous prolonged remission may occur Most patients present with advanced disease; …
Friedreich Ataxia Friedreich Ataxia is a rare condition. This is the most common hereditary neurodegenerative ataxic disorder. Friedreich Ataxia results in degeneration of the dorsal root ganglia, posterior columns, spinocerebellar and corticospinal tracts, and large sensory peripheral neurons. Epidemiology & Demographics Incidence (In U.S.) Estimated incidence of Friedreich Ataxia – at 1 in 30,000 Caucasians …