Show Notes
HIGH YIELD 2: Marfan's vs Homocystinuria vs Ehlers-Danlos High yield review for the USMLE Step 1 exam. Marfan's syndrome, Ehlers-danlos, and homocystinuria are three distinct diseases that affect connective tissue. They share similarities like tall stature, long fingers, scoliosis, high arched palate, chest wall deformities, joint hypermobility, and lens dislocation. Marfan's syndrome is caused by FBN1 gene mutation on chromosome 15, and it results in defective fibrillin-1. It causes aortic root dilation, and upward lens dislocation. Homocystinuria is caused by a defect in homocysteine breakdown, and it results in elevated levels of homocysteine, which is toxic to the body. It causes thrombosis and downward lens dislocation. Ehlers-Danlos syndrome is caused by a deficiency in type III collagen, and it results in hyperextensible skin, easy bruising and bleeding. It can cause vascular rupture, and it usually occurs in the arterial system. Patients with Marfan's syndrome present with scoliosis, long fingers and toes, and caved-in chest wall. Patients with homocystinuria present with developmental delay, long fingers and toes, and upward lens dislocation. Patients with Ehlers-Danlos syndrome present with recurrent bruising, soft hyperextensible skin, and joint hyperextensibility
More from Step 1 Basics (USMLE)
4.11 Antibody Review Rheumatology review for the USMLE Step 1 Exam. ANA Principles ANA (Anti-Nuclear Antibody): Non-specific antibody. Reacts against nuclear antigens, including proteins, DNA, RNA, and nucleic acid-protein complexes. Includes a group of antibodies such as anti-dsDNA, anti-histone, SSA/Ro, SSB/La, Scl-70, anti-aminoacyl-tRNA synthetase (Jo-1). Found in 20-30% of the general public without connective tissue disorder symptoms.
4.10 Gout and Pseudogout Rheumotology review for the USMLE Step 1 Exam. Gout Caused by uric acid crystal deposition due to purine metabolism. Triggers inflammation when crystals precipitate in cooler joint fluid. Presents with severe, red, and swollen monoarticular joints, often in the big toe. Diagnosis through synovial fluid analysis. Acute treatment: colchicine, NSAIDs, and glucocorticoids. Preventive treatment: allopurinol, febuxostat, probenecid, and lifestyle changes. Pseudogout Resulting from calcium pyrophosphate crystal deposition, often due to ATP breakdown. Manifests with painful, swollen joints, typically affecting multiple upper extremity joints, especially the knee. Diagnosis through synovial fluid analysis. Acute treatment resembles gout management. No direct preventive treatment to lower calcium pyrophosphate levels. Thanks for listening!
4.09 Rheumatologic Emergencies Rheumatology review for USMLE Step 1 Exam Giant Cell Arteritis (GCA) A large vessel vasculitis, mainly in older individuals. Symptoms: headache, jaw claudication, vision loss. Ischemia from granulomas in large vessels causes vision loss. Immediate high-dose corticosteroids are crucial. Scleroderma Renal Crisis A complication of scleroderma. Symptoms: finger edema, skin tightening, sudden hypertension, rising creatinine. Renal artery fibrosis leads to high blood pressure. Treat with IV ACE inhibitor, not steroids. Acute Transverse Myelitis in SLE Inflammation of the spinal cord in lupus. Symptoms: bilateral numbness, tingling, weakness. Treat with corticosteroids. Catastrophic Antiphospholipid Syndrome (CAPS) A rare, life-threatening form of APS. Symptoms: unexplained miscarriages, unexplained clots, multiorgan failure. Treat with anticoagulation followed by immune suppression
1.06 Systolic Heart Murmurs Cardiovascular system review for the USMLE STEP 1 Exam Heart murmurs are caused by turbulent blood flow in the heart
5.13 OCD and Related Disorders Psych review for the USMLE Step 1 Exam Obsessive Compulsive Disorder (OCD): Unwanted thoughts (obsessions) and repetitive behaviors (compulsions). Treat with CBT + SSRIs/SNRIs. Tic Disorders: Tourette Syndrome involves multiple motor and at least one vocal tic. Treat with Habit Reversal Therapy. Body Dysmorphic Disorder: Preoccupation with minor flaws, treat with SSRIs and CBT. Trichotillomania: Hair pulling disorder, treat with Habit Reversal Training and sometimes SSRIs. PANDAS: Pediatric disorder after strep infection, sudden OCD-like symptoms. Treat with antibiotics, CBT, and SSRIs.