Processing-deficient progeroid laminopathy linked to a heterozygous LMNA mutation is a rare genetic disorder marked by premature aging features and multisystem involvement. The disorder arises from defects in the post-translational processing of lamin A, a key structural protein of the nuclear envelope encoded by the LMNA gene. The pathological consequence is a toxic buildup of
Primary Progressive Multiple Sclerosis (PPMS) is a distinct subtype of multiple sclerosis characterized by a steady neurological decline from onset without clear relapses or remissions. Unlike relapsing-remitting MS, PPMS represents approximately 10–15% of all MS cases and typically presents later in life, often around the age of 40. The progressive nature of PPMS stems from
Primary prevention of coronary heart disease (CHD) involves proactively addressing modifiable risk factors before the onset of clinical symptoms. This preventative approach significantly reduces the incidence of myocardial infarction, sudden cardiac death, and other cardiovascular complications. We emphasize the implementation of evidence-based strategies through lifestyle modification, pharmacologic interventions, and targeted screenings. Epidemiology and Public Health
Primary mediastinal large B-cell lymphoma (PMBCL) is an aggressive subtype of diffuse large B-cell lymphoma (DLBCL), distinguished by its origin in the thymic (anterior) mediastinum and unique clinical and biological features. Though it accounts for approximately 2–4% of all non-Hodgkin lymphomas, it is a critical entity due to its distinct pathology, treatment requirements, and demographic
Primary malignant neoplasms of the gastrointestinal (GI) tract refer to cancers originating within the various sections of the GI system, which includes the esophagus, stomach, small intestine, colon, rectum, liver, and pancreas. These malignancies represent a major global health burden and are among the leading causes of cancer-related mortality worldwide. Early detection and prompt intervention
Primary Hyperoxaluria Type I (PH1) is a rare autosomal recessive genetic disorder characterized by the overproduction of oxalate, a metabolic end product that the body cannot degrade. The excess oxalate combines with calcium to form calcium oxalate crystals, leading to nephrolithiasis, nephrocalcinosis, and ultimately end-stage kidney disease (ESKD) if left untreated. PH1 results from a
Primary genital syphilis represents the first stage of syphilis infection, caused by the spirochete bacterium Treponema pallidum. Characterized by the appearance of a painless genital ulcer known as a chancre, this sexually transmitted infection (STI) marks the onset of a systemic disease that can progress through several distinct clinical stages if left untreated. Early diagnosis
Primary dysbetalipoproteinemia, also known as type III hyperlipoproteinemia, is a rare genetic lipid metabolism disorder characterized by the improper clearance of remnant lipoproteins from the bloodstream. This leads to elevated plasma cholesterol and triglyceride levels, increasing the risk of premature atherosclerosis and cardiovascular diseases. The condition is closely associated with mutations in the apolipoprotein E
Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is a chronic autoimmune liver disease that primarily affects the bile ducts within the liver. Over time, the condition leads to the progressive destruction of these ducts, impairing the liver’s ability to secrete bile. This impairment can result in the accumulation of bile salts, leading
Primary adrenocortical insufficiency, commonly known as Addison’s disease, is a rare yet critical endocrine disorder that affects the adrenal glands’ ability to produce essential hormones, including cortisol and aldosterone. These hormones are pivotal in regulating a variety of bodily functions, such as metabolism, immune response, and fluid balance. Without adequate hormone production, individuals with primary