Internal medicine

  The Clotting Puzzle: Thrombophilia Testing Done Right A Critical Appraisal for the Discerning Internist Dr Neeraj Manikath , claude.ai Abstract Thrombophilia testing represents one of the most frequently misapplied investigations in contemporary internal medicine. Despite widespread availability and clinician familiarity, inappropriate testing leads to unnecessary anticoagulation, patient anxiety, insurance complications, and substantial healthcare expenditure without corresponding clinical benefit. This review provides evidence-based guidance on appropriate thrombophilia testing, interpretation of results in clinical context, and the limited circumstances where genetic information genuinely influences management decisions. Introduction The discovery of inherited thrombophilias revolutionized our understanding of venous thromboembolism (VTE). However, this scientific advancement has paradoxically spawned a cottage industry of inappropriate testing. Studies consistently demo...

  The Puzzle of Familial Hypercholesterolemia A Practical Guide to Diagnosis and Cascade Screening Dr Neeraj Manikath , claude.ai Abstract Familial Hypercholesterolemia (FH) remains one of the most common yet severely underdiagnosed genetic disorders in medicine, affecting approximately 1 in 250 individuals worldwide. Despite its prevalence and the availability of effective treatments, an estimated 90% of FH cases remain undiagnosed, leading to preventable premature atherosclerotic cardiovascular disease (ASCVD). This review provides a comprehensive, practical approach to recognizing, diagnosing, and implementing cascade screening for FH in clinical practice, with emphasis on actionable strategies for postgraduate physicians in internal medicine. Introduction: The Hidden Epidemic Imagine walking past four random people on the street—statistically, one of them likely has hypertension. Now imagine that among every 250 people, one harbors a genetic time bomb that, if left undete...

  The Iron-Overloaded Patient: A Guide to Hereditary Hemochromatosis Dr Neeraj Manikath , claude.ai Abstract Hereditary hemochromatosis (HH) represents one of the most common inherited disorders in populations of Northern European ancestry, yet remains significantly underdiagnosed despite being eminently treatable. This review provides a comprehensive, evidence-based approach to recognizing, diagnosing, and managing iron overload, with emphasis on the genotype-phenotype disconnect that often confounds clinical decision-making. We highlight practical diagnostic algorithms, explore the nuances of penetrance, and underscore the critical importance of cascade family screening. Keywords: Hereditary hemochromatosis, HFE gene, iron overload, transferrin saturation, C282Y mutation, family screening Introduction: The "Common Zebra" "When you hear hoofbeats, think horses, not zebras" remains a cornerstone of medical education. Yet hereditary hemochromatosis defies this...

  The Endocrine Tumor Syndromes: Beyond the Sporadic Nodule Connecting Genetics to Common Endocrine Presentations A Review for Postgraduate Training in Internal Medicine Dr Neeraj Manikath , claude.ai Introduction: The Paradigm Shift from Sporadic to Syndromic The contemporary internist encounters endocrine nodules with remarkable frequency. A thyroid nodule, an incidentally discovered adrenal mass, or biochemical hypercalcemia may seem routine—until they are not. The critical distinction between sporadic endocrine neoplasia and hereditary endocrine tumor syndromes represents one of the most consequential diagnostic decisions in modern medicine. Missing a hereditary syndrome condemns the patient and their family members to preventable malignancies, often with fatal outcomes. Recent advances in molecular genetics have revolutionized our understanding of endocrine neoplasia. What was once considered rare is now recognized with increasing frequency. The traditional teaching that...