Introducing 

Prezi AI.

Your new presentation assistant.

Refine, enhance, and tailor your content, source relevant images, and edit visuals quicker than ever before.

Loading…
Transcript

HEMOPHILIA C

IMPACTS

  • There are gynecological and obstetrical problems with Hemophilia C:
  • Prolonged bleeding after major trauma, surgery/high risk procedures include:
  • Tooth extraction
  • Tonsillectomy
  • Abalation of uterus or

prostate

OBSTETRICAL:

  • Hemmorrhage following delivery or abortion (voluntary or spontaneous) or after gynecological surgery
  • DURING PREGNANCY:
  • Factor VIII & Von Willderbrand factors more abundant in the blood due to hormones >> improving coagulation & makes up for F.XI deficiency
  • as hormone levels reduce back to normal after delivery, so does Factor VIII & Von WB factors levels = reducing coagulation ability

GYNECOLOGICAL:

  • Menorrhagia (Excessive menustrual flow
  • Physical & Psychological problems may occur due to menorrhagia:
  • SEVERE ANEMIA >> side effect
  • IRON DEFICIENCY = causes learning difficulties in adolescents
  • Frequent trips to the toilet; painful flow

DIAGNOSIS:

What is Hemophilia C?

  • Haemophilia C AKA Plasma Thromoboplastin Antecedent Deficieny(PTA) or Rosenthal Syndrome
  • Factor XI deficiency; very rare blood coagulation disorder. Most commonly affecting Jewish folks of Askenzi decent.
  • Approx. 1 in 100,00 = affected
  • As high as 8% Ashkenazi Jewish population affected by Hemo. C
  • Most common genetic disorder within this population
  • Due to lack of symptoms in many cases, Hemophilia C often does not get diagnosed

Coagulation Profile:

  • INR, aPTT, Platelet Count, Fibrinogen
  • Normal range for Factor XI activity levels is 70-150 U/dL
  • SEVERE deficiency: < 13 U/dL
  • MILD deficiency: 18-64 U/dL

TREATMENT:

  • FRESH FROZEN PLASMA: used to treat first diagnosed patients
  • F.XI CONCENTRATE: powder then mixed with small volume of liquid to make a solution for administration
  • HORMONE THERAPY: administration of hormones to imitate pregnancy; F.VIII & VWF are increased along with clotting ability
  • DDAVP: synthetic hormone desmopressin
  • encourages coagulation by increasing F.VIII & VWF levels

EVOLUTION:

  • First described in 1953 in a Jewish family in the US
  • Two sisters had abnormal bleeding after tooth extraction surgery, as well as after a tonsillectomy
  • 6/13 members of the family over 4 generations >> Factor XI deficient

TRANSMISSION:

  • Factor XI deficiency is transmitted from parent to child at conception
  • Mutations are responsible for genetic defects causing F.XI deficiency = great variability of symptoms

  • Offspring may receive one or two defective genes from a single pair; 2 defective genes >> increases severity
  • Not sex-specific; linked to chromosome 4; found in male and females
  • Parent with 2 defective genes = all children receiving 1 defective gene

SIGNS & SYMPTOMS

  • Tendency of the mucosa to bleed
  • Epistaxis
  • Eccymosis
  • Blood in urine
  • Bleeding from the intestines
  • Unlike Hemophilia A or B, F.XI deficiency does not cause bleeding into muscles or joints
  • ***level of F.XI deficiency is not proportional to severity of symptoms:
  • MILD DEFICIENCY = may have tendency to bleed
  • SEVERE DEFICIENCY = may not have tendency to bleed
  • tendency to bleed is linked to number/type of gene mutation
  • two people with the same F.XI levels = different set of symptoms
Learn more about creating dynamic, engaging presentations with Prezi