HEMA

• Hereditary Hemorrhagic Telangiectasia


  Autosomal dominant disorder with vascular malformations involving dilated, tortuous and disorganized vessels throughout the body, characterized by widespread telangiectatic lesions of the skin and mucous membrane
• Hereditary Hemorrhagic Telangiectasia


  • Lesions develop on the tongue, lips, palate, face and hands
  • Iron deficiency anemia is usual
• Laboratory Findings for Hereditary Hemorrhagic Telangiectasia

  • Anemia depending on the degree of bleeding
  • Normal BT, PFT, Tourniquet test, Coagulation test
  • Diagnosis is based on the findings of Telangiectasia
• Treatment for Hereditary Hemorrhagic Telangiectasia

  1. Oral iron for anemia

  2. Therapeutic drugs or surgical techniques to stop or prevent bleeding
• Hemangioma Thrombocytopenia Syndrome (Kasabach-Merritt Syndrome)


  Profound thrombocytopenia related to platelet trapping within a vascular tumor, either a Kaposi-like hemangioendothelioma or a tufted angioma
• Hemangioma Thrombocytopenia Syndrome

  • Thrombocytopenia is usually severe and associated with DIC and MAHA
  • Bleeding diathesis
  • Platelet trapping demonstrated by immunohistochemical staining of the tumors with anti-CD61 antibodies
• Ehlers-Danlos Syndrome


  Autosomal-dominant, recessive or x linked disorder characterized by hyper distensible joints and fragile skin; bleeding is due to abnormalities of collagen in blood vessel walls leading to vascular fragility
• Defect in Ehlers-Danlos Syndrome

  Defect in the peptidase enzyme that converts procollagen to collagen
• Ehlers-Danlos Syndrome

  • Affected individuals are prone to serious and potentially fatal complications, especially vascular, intestinal, and uterine ruptures
• Laboratory Findings for Ehlers-Danlos Syndrome

  • Physical findings: Large skin ecchymosis and hematomas, bleeding from the gums, GIT bleeding
  • Coagulation tests and platelet count are normal
• There is no known therapy for Ehlers-Danlos Syndrome
• 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 disorder affecting elastic fibers of connective tissue of skin and arteries, causing fragmentation and mineralization of elastic fibers
• Pseudoxanthoma elasticum is caused by autosomal recessive mutations in the ABC6 gene on the short arm of chromosome 16
• Laboratory tests are usually not helpful in the diagnosis of Pseudoxanthoma elasticum except to rule out other causes
• There is no known therapy for Pseudoxanthoma elasticum
• Osteogenesis imperfecta

  Rare autosomal-dominant disorder caused by mutation of genes which code for peptides of type 1 collagen; individuals may demonstrate easy bruising, epistaxis, hemoptysis and intracranial bleeding
• Purpura


  Clinical manifestation of red blood cell extravasation into mucosa or skin, results from various conditions, including rheumatologic, infectious, dermatologic, traumatic and hematologic disorders
• Allergic Purpura (Anaphylactoid Purpura)


  Syndrome characterized by a relatively distinctive purpuric eruption in association with various constitutional and localized symptoms, resulting from an autoimmune process or allergic vasculitis
• Causes of Allergic Purpura

  • Certain foods, drugs, cold, insect bites
• Henoch-Schönlein Purpura

  Result of allergic vasculitis which involves the skin, GIT, kidneys, heart and CNS, considered an immune complex disease characterized by involvement of capillaries with diffuse infiltration of neutrophils, lymphocytes and macrophages
• Henoch-Schönlein Purpura is commonly seen in children and renal dysfunction is common but typically reversible
• Purpura associated with infection

  A wide variety of infections may produce purpura by means of vascular damage which result from direct endothelial injury by the infectious agent
• Septic emboli


  Bacteria containing blood clots that have broken free of their source and traveled through the bloodstream until getting lodged in and blocking a blood vessel, can have mild to serious outcomes
• Purpura fulminans


  Disorder characterized by sudden onset, fever, prostration, symmetric circumscribed ecchymoses and infarcts of the skin and frequently by gangrene of the extremities, due to diffused vascular injury and intra-vascular coagulation
• Waldenstrom's Purpura


  Disorder of women that presents with recurrent purpura on the lower extremities and resultant hemosiderin staining of the skin
• Cryoglobulinemia

  Caused by production of cryoprecipitable serum proteins or protein complexes, resulting from primary plasma cell dyscrasias or from hepatitis C
• Hyperviscosity Syndrome


  Results from hypergammaglobulinemia owing to an increase in plasma viscosity, presenting with mucosal bleeding, visual changes, and neurologic symptoms
• Amyloidosis


  Bleeding is caused by deposition of amyloid protein around small blood vessels, resulting in vessel fragility, low factor X levels, hyperfibrinolysis, and platelet function alterations
• Senile Purpura

  Seen in older individuals, or in individuals undergoing corticosteroid therapy, with purpuric lesions occurring on the hand and arms
• Drug Induced Purpura

  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, resulting in gingival bleeding, hemorrhage into subcutaneous tissue, and petechiae
• Purpura Simplex (Simple Purpura)


  Simple purpura, Devil's pinches, Simple vascular or vascular fragility occurs as a result of skin fragility, with superficial bleeding and normal laboratory tests
• Psychogenic Purpura

  Seen in individuals with emotional problems, often after severe trauma or extensive surgery, which may be hypersensitive to RBC membrane components or DNA hypersensitivity