2. 2 Hemophilia B-Case Report Bijan Keikhaei, Ahvaz Jundishapur University of Medical Sciences Medical Sciences

3. 3 Case Presentation A 25 years old man admitted in hospital with complaints of abdominal pain, hematemesis, and melena. He is a known case of Hemophilia B who was diagnosed at age 9 months with gum bleeding and serum factor IX level <1%. He has experienced recurrent joints bleeding since childhood. The patient reported having been treated his bleeding with episodic regimen (on demand) with plasma derived factor IX.

4. 4 Drug and Family History He denied Aspirin taking and Alcohol drinking. The patient’s family history is noteworthy for consanguineous parents (first cousins) and a brother who also suffering from hemophilia B.

5. Laboratory Findings Investigation findings were Hb-4gm/dl, MCV: 84Fl,MCH: 27 Pg, ESR-20mm,BUN:28 mg/dl, Cr:1.2 mg/dl Platelet count-330000/cmm, PT- 14.5 sec (INR-1.2), APTT- 82.8 sec, Plasma factor IX activity-1% the patient’s plasma with pooled normal plasma demonstrated full correction of the aPTT, a result consistent with factor deficiency(No Inhibitor).

6. 6 Physical Examination On examination patient is severely anemic, semi consciousness, pulse rate-140/min, BP- 80/50 mm Hg. On examination of musculoskeletal system, there was wasting of thigh and calf muscles and left knee arthropathy.

7. 7 Case Presentation The patient was admitted in ICU. He was transfused with two units packed blood cells and water electrolyte. NG Tube has been placed. He was initially managed with factor IX concentrates 100U/Kg to achieve a 100% level every 12 hours for 3 days then 60 u/kg for 4 days.

8. 8 Questions to Consider What is the possible cause of ?What medical intervention would you in evaluating this patient recommend?

9. 9 Endoscopy Procedure Upper digestive tract diagnostic endoscopy was performed in patient. It was showed a duodenal ulcer 1*1 cm Surgery was not recommended by surgeon. Pathology report: PMN Infiltration, Fibrin deposit, Positive for H.Pylori organism.

10. Hemophilia B, Hemorrhagic Shock Low blood pressure, high pulse rate and low hemoglobin level were used as severity criteria for hemorrhagic shock.

11. 11 Hemophilia B-GI bleeding Upper Gastro Intestinal (UGI) Bleeding is one of the most life-threatening complications, and occurs in up to 25% of persons with Hemophilia.

12. 12 Hemophilia B-GI bleeding Recurrent bleeding is common and can be caused by the Helicobacter Pylori (H.Pylori) infection.

13. 13 Hemophilia B-History There is no statistically significant correlation between the incidence of H.Pylori infection and bleeding disorder but the rate of bleeding severity is more common in H.Pylori positive patients.

14. Treatment Treatment to eradicate the bacterium H. pylori, by the administration of two antibiotics (Amoxycicllin and Chlarithromycin)combined with a proton pump inhibitor, reduces the risk of a recurrence of bleeding peptic ulcer.

15. Summary Bleeding peptic ulcer is an acute, life-threatening condition in bleeding disorder patients particularly hemophilia patients that requires hospital admission. To eradicate H. pylori after an episode of bleeding peptic ulcer reduces the risk of recurrent bleeding within the following 12 months.

17. Hemophilia B-Risk Factors for GI Bleeding As in non-haemophilic patients, Helicobacter Pylori infection and the use of non steroidal anti- inflammatory drugs are important risk factors for upper gastrointestinal bleeding, acording to several studies.

18. 18 Hemophilia –B GI bleeding Duodenal ulcer was the main cause of gastrointestinal bleeding, in 22% of cases. Gastritis was responsible for 14% of cases. In 22% of cases the etiology of gastrointestinal

19. Source of GI bleeding in Hemophilia A review of 41 episodes of gastrointestinal bleeding in one institution over 10 years implicated duodenal ulcer (22%) and gastritis (14%) as the most common source [21]. In 22%, no source was identified. Mallory-Weiss Syndrome has also been cited as a cause for upper GI bleeding Angiodysplasia(People with VWD are more likely than others to get angiodysplasia.)

20. Discussion Gastrointestinal bleeding is a major bleeding episodes in hemophilia patients. Immediate treatment is recommended, preferably in the first 2 hours from the onset. Severe forms, without inhibitors can be treated with factor IX concentrate. Gastrointestinal endoscopy is a useful an safe diagnostic tool, after the correction of factor IX level of minimum 0.4U/ml.

21. Guidelines for acute management of severe hemorrhage in hemophilia A and B 1-Assure adequate airway, breathing, and circulation 2. Attain venous access as quickly as possible. 3. Infuse appropriate FVIII (hemophilia A) or FIX (hemophilia B) at a dose to achieve physiologic levels immediately (50 IU/kg body weight FVIII or 100-120 IU/kg high purity FIX respectively; 4. Obtain CT scan, ultrasound, or other imaging studies as indicated to ascertain bleeding site/source. 5. Request consultation from appropriate physician 6. Hospitalize. 7. Monitor FVIII/FIX levels respectively on a frequent basis to maintain level in the mid physiologic range. 8. Continue with frequent bolus or continuous clotting factor infusions. 9. Examine the patient following hospitalization.

22. Treatment Hospitalization is reserved for severe or life- threatening bleeds, such as large soft tissue bleeds; retroperitoneal hemorrhage; and hemorrhage related to head injury, surgery, or dental work. Dose calculations are directed toward achieving a factor IX (FIX) activity level of 30% for most mild hemorrhages, of at least 50% for severe bleeds (eg, from trauma) or for prophylaxis of major dental surgery or major surgery, and 80-100% in life-threatening hemorrhage.