Other Random diseases Flashcards
Scleroderma
Pathogenesis: Endothelial dysfunction (TGF-B) increase fibroblast activation, systemic deposition of collagen
AntiCentromere Ab
Pathology: Vascular and organ fibrosis
Clinical: Raynauds, skin induration (stiff hands), carpal tunnel, telangiectasia calcinosis, esophgeal dysmotility, pulmonary fibrosis, hypertension, PAH
Treatment: vasodilators, prednisone, methotrexate, mycophenolate, cytophsophamide
CREST: Calcinosis, Raynauds, Esophageal dysmotility, Sclerodactyly (Hard Fingers), Telangiectasia
Sarcoidosis
Pathogenesis: CD4 Th1 response to unknown Ag
Pathology: Non-Caseating granulomatous synovitis and vasculitis
Clinical: fevers, hilar lymphdenopathy, interstitial pulmonary fibrosis, oligo arthritis, uveitis, panniculitis, neuropathy,.
Elevated angiotension converting enzyme (ACE)
Treatment: NSAIDs, pednisone, methotrexate
Polymyalgia Rheumatica
HLA DR4 associated variant of RA All have 10% of developing Giant cell arteritis Clinical: 3 Schemes Chuang: Stiffness >1 months in 2 regions Shoulder, neck, hips/thighs ESR>40
Healey: Persistent pain in 2 regions Neck, shoulders, pelvic girdle AM stiffness>1 hour ESR>40 Rapid response to prednisone
Bird: Older Bilateral shoulder pain and stiffness Onset with 2 weeks Initial ESR increased AM stiffness >1 hour Depression and weight loss ]
Giant Cell arteritis
Symptoms: Temporal headache, Scalp tenderness, Ischemic optic neuropathy (can lead to blindness), Jaw claudication upper extremity vascular claudication
Associated with Polymyalgia rheumatica
Diagnosis: Clinical, Increased ESR, abnormal Temporal artery biopsy
Treatment: prednisone with or without methotrexate
L4 Radiculopathy
L3-L4 disc herniaton usually impinges the L4 root
Muscle weakness of the quads and anterior tibialis
Patellar reflex is diminished or absent
Sensation is decreased near the medial malleolus and medial shin
S1 radiculopathy
L5-S1 disc usuallly impinges S1 root
Muscle weakness of the Gastronemius and peroneus longus
Test Gastronemius patient by having them stand on one leg and go up and down on toes
Achilles reflex is decreased or absent
Sensation is decreased on lateral aspect of the foot
Achondroplasia
Autosomal dominant
80% from mutations in paternal allele due to advanced paternal age
Inhibits endochondral ossification without affecting membranous ossification
Patogenesis: acitivating mutation in FGF receptor 3 (FGFR3) gene causes constitutive activation of FGFR3 which suppresses cartilage proliferation and bone growth
Clinical: shortened proximal extremities, trunk normal length, enlarged head w/bulging forehead, conspicuous depression of root of nose
Not associated with changes in logevity, intelligence, or reproductive status
Osteogenesis imperfecta
Most common inherited disorder of connective tissue
Defective synthesis of type 1 collagen
Caused by many autosomal dominant mutations
Impacts bone, joints, eyes, ears, skin and teeth. Brittle-bone disease
Classic characteristics: Mutliple fractures with minimal trauma and during birth process
Blue sclera due to the translucency of the CT over choroidal veins
hearing loss
dental imperfections
May be confused with child abuse
Mucopolysaccharidosis
Lysosomal storage disease caused by deficiencies in enzymes that degrade sulfates (dermatin, heparin, keratin) by affecting acid hydrolases
Affected cells include mesenchymal cells (chondrocytes especially) because they normally metabolize ECM mucopolysaccharides.
Causes cartilage fomation to be affected
Abnormalities in hyaline cartilage leads to skeletal manifestations, short stature, chest wall abnormalaites and malformed bones
Osteopetrosis
Autosomal dominant or recessive
Impaired formation or function of osteoclasts causes very thick, brittle bones that fracture easily
Pathogenesis: mutations interfere with process of acidification of the osteoclast that make it so they can’t dissolve bone
Mutation in the gene that codes for carbonic anhydrase 2 (can’t make carbonic acid)
Morphology: bones lack medullary canals. The ends of long bones are bulbous, neural formina are small which can cause cranial nerve palsies
Clinical: Fracture, cranial nerve palsies, anemia, thrombocytopenia, and leukopenia (bony impinges on medullary canal), optic atrophy (blindness), deafness, facial paralysis, hydrocephalus (narrowing of foramen magnum),
If due to carbonic anyhydrase mutation we also see renal tubular acidosis
Treatment: bone marrow transplant (because osteoclasts are derived from monocytes from the bone marrow)
hyperparathyroidism
Primary-hyperplasia or tumor of the parathyroid
Secondary-results from prolonged states of hypocalcemia
Causes increased PTH detected by receptors on osteoblasts
Osteoblasts activate osteoclasts and cause resorption of bone
Entire skeleton is involved
Causes sencondary osteoporosis
Generalized osteitis fibrosis cystica: picture of increased bone cell activity, peritrabecular fibrosis, and cystic brown tumors, hallmark of severe hyperparathyroidism
Renal osteodystrophy
Skeletal changes of chronic renal disease
Chronic renal disease causes increased osteoclastic resporption (osteoporosis), delayed mineralization (osteomalacia)
Pathogenesis: Phosphate retention and hyperphosphatemia causes secondary hyperparathyroidism
Renal failure also causes metabolic acidosis which leads to bone resorption and release of minerals from matrix
Tendon/ligament injury
Compression, impingement, tensile overload, leading to ischemia, pathologic alignment, tenocyte death
Achilles tendonits common in runners due to low blood flow
Type 1: mild sprains-overstretching
Type 2: moderate sprains: tearing and hemorrhage but ligament continuity is maintained.
strength greatly reduced
Type 3: complete disruption
