FINALS 1: PRIMARY HEMOSTASIS DISORDERS - VASCULAR DISORDERS

• HEREDITARY VASCULAR DISORDERS

  1. Hereditary Hemorrhagic Telangiectasia
  2. Hemangioma Thrombocytopenia Syndrome
  3. Ehlers Danlos Syndrome
  4. Other Genetic Disorders
• HEREDITARY HEMORRHAGIC TELANGIECTASIA


  • Vascular malformation involves vessels throughout the body, which are dilated, tortuous and disorganized.
  • IDA is usual.
• Hemangioma Thrombocytopenia Syndrome / KASABACH-MERRITT SYNDROME

  • “platelet trapping” and platelet consumption associated with DIC.
  • Platelet trapping demonstrated by immunohistochemical staining of the tumors with anti-CD61 antibodies
  • Bleeding Diathesis
• EHLERS-DANLOS SYNDROME

  • autosomal-dominant, recessive or x linked disorder characterized by hyper distensible joints and fragile skin
• MARFAN SYNDROME

  • Autosomal-dominant
  • Genetic disorder due to mutation of the gene for fibrillin resulting in abnormalities of connective tissues and risk for bleeding and bruising
• Pseudoxanthoma elasticum


  • autosomal recessive mutations in the ABC6 gene on the short arm of chromosome 16
  • disorder causes fragmentation and mineralization of elastic fibers in some tissues

  
  

  • LF: Test usually are not helpful in the diagnosis except to rule other causes of the clinical abnormalities.
  • TX: No known therapy

  The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis
• OSTEOGENESIS IMPERFECTA


  mutation of genes which code for peptides of type 1 collagen; individuals may demonstrate easy bruising, epistaxis, hemoptysis and intracranial bleeding
• ACQUIRED VASCULAR DISORDERS

  1. Allergic Purpura (Henoch Schoenlein)
  2. Paraproteinemia and Amyloidosis
  3. Senile Purpura Drug
  4. Induced vascular purpura
  5. Vitamin C Deficiency (Scurvy)
• PURPURA


  red blood cell extravasation into mucosa or skin, results from various conditions, including rheumatologic, infectious, dermatologic, traumatic and hematologic disorders
• ALLERGIC PURPURAS / ANAPHYLACTOID PURPURA


  syndrome characterized by a relatively distinctive purpuric eruption in association with various constitutional and localized symptoms.

  • Associated with: certain foods, drugs, cold, insect bites.
  • The disorder is the result of an autoimmune process or allergic vasculitis (Ex. Henoch-Schonlein Purpura)
• Nonthrombocytopenic purpura characterized by allergic manifestation


  skin rash and edema
• Henoch- Schönlein Purpura


  It is commonly seen in children; renal dysfunction is common and typically reversible in children

  • involves the skin, GIT, kidneys, heart and CNS
  • involvement of capillaries with diffuse infiltration of neutrophils, lypmhocytes and macrophages.
• Ecthyma gangrenosum


  Septic emboli to the skin
• embolus


  anything that moves through blood vessels until it gets stuck in a vessel that’s too small to pass through and stops the blood flow.
• two-pronged attack on your body

  1. They completely block or partially reduce blood flow.
  2. The blockage includes an infectious agent.
• Purpura Fulminans


  A unique disorder characterized by sudden onset, fever, prostration, symmetric circumscribed ecchymoses and infarcts of the skin and frequently by gangrene of the extremities

  • The major initiating factor appears to be diffused vascular injury and intra-vascular coagulation
• Waldenstrom’s Purpura


  a disorder of women that presents with recurrent purpura on the lower extremities and resultant hemosiderin staining of the skin similar to Schambergs
• Cryoglobulinemia


  caused by production of cryoprecipitable serum proteins or protein complexes (result from primary plasma cell dyscrasias or from hepatitis C)
• Hyperviscosity Syndrome


  results from hypergammaglobulinemia owing to an increase in plasma viscosity.

  • The clinical presentation of hyperviscosity syndrome consists principally of the triad of mucosal bleeding, visual changes, and neurologic symptoms
• Amyloidosis


  deposition of amyloid protein around small blood vessels

  • Low factor X levels from binding of Factor X to amyloid fibrils, hyperfibrinolysis related to excessive urokinase activity and platelet function alterations may enhance bleeding tendencies.
• SENILE PURPURA


  seen in older individuals, or in individuals undergoing corticosteroid therapy; purpuric lesions occur on the hand and arms
• DRUG INDUCED PURPURA


  This is a purpura induced by iodides,

  • quinine, procaine, penicillin, and aspirin.
• SCURVY


  caused by a deficiency in Vitamin C (ascorbic acid) and decreased synthesis of collagen with weakening of capillary walls.

  
  

  • Physical Findings: Gingival bleeding, hemorrhage into subcutaneous tissue. Petechiae – on the thighs
  • Treatment: Administration of ascorbic acid
• Without Vit. C


  collagen cannot be formed properly hydroxylation of. Amino acid proline and lysine cannot take place
• PURPURA SIMPLEX


  Simple purpura, Devil’s pinches, Simple vascular or vascular fragility occurs as a result of skin fragility. Bleeding is superficial Laboratory tests are normal
• PSYCHOGENIC PURPURA


  is seen in individuals with emotional problems, often after severe trauma or extensive surgery, which may be hypersensitive to RBC membrane components or DNA hypersensitivit
• HEREDITARY HEMORRHAGIC TELANGIECTASIA Also known as

  Osler-Weber-Rendu Syndrome
• HHT Treatment are


  Oral iron - Anemia / To stop or prevent bleeding: Therapeutic Drugs , Surgical Technique
• EHLER'S DANLOS LF


  Coagulation Test & Platelet count = NORMAL
• EHLER'S DANLOS PF

  Large skin ecchymosis and Hematomas, bleeding from the gums, GIT bleeding.
• SCOLIOSIS


  In marfan syn, what is the med term for abn mature of spine
• OSTEOGENESIS IMPERFECTA


  Often referred as brittle bone disease
• Ecthyma gangrenosum 


  Cutaneous infection arises in immunocompromise person with fulminans

  bacteremia
• Arteriosclerosis 


  Medical term if there is buildup of fat deposit
• QUININE


  Treatment specifically for malaria
• HEPATITIS C


  Viral infection associated with Cryoglobulinemia
• NEPHROTIC SYNDROME


  the conditions when you have albumin in urine
• AUTOSOMAL DOMINANT

  • HHT
  • Marfan syndrome
  • Osteogenesis imperfecta
• AUTOSOMAL RECESSIVE

  • Pseudoxanthoma Elasticum
  • Ehlers Danlos