Management Conference

1. Management Conference Young woman with several episodes of hematemesis Raika Jamali MD Digestive Disease Research Center Tehran University of Medical Sciences

2. 19 year old girl with hematemesis admitted for evaluation of UGI bleeding. • There were Hx of hematemesis 2 months ago and also 1 year ago with several episodes in early childhood( 2 years old). • There was no history of epistaxies, hematuria and siezure.

3. The endoscopic diagnosis was vascular malformation( hemangioma?) in distal esophagus . • Although the recent endoscopy in our hospital showed 2 rows of G1 and 2 rows of G2 distal esophageal varices and also gastric fundal varices with snake skin appearance.

4. Physical examination • There was orthostatic hypotension and tachycardia on admission. • There were cutaneus hemangiomas on right side of the face and also on the dorsum of the right leg & thigh. • The conjunctiva was anemic. • Heart & lung were NL. • The abdomen was normal. No collateral in abdominal inspection. • No hepatosplenomegaly. No shifting dullness.

5. LAB DATA • WBC=8700 • DIFF=NL • RBC=3640000 • Hb=9.7 • MCV=78 • MCHC=26 • PLT=293000

6. AST=12 BUN=20 • ALT=14 Cr=0.7 • ALP=130 Na=141 • BILI TOTAL=3.2 K=4 • BILI DIRECT=0.6 FBS=90 • PT=12.6 (INR=1.1) • PTT=26 • SERUM ALBUMIN=4.6 • SERUM PROTEIN=5.8 • SERUM IRON=58 • TIBC=380

7. HBs Ag=negative • HBs Ab=negative • HBc Ag=negative • HCV Ab=negative

8. ABDOMINAL SONOGRAPHY • Liver had normal echotexture and span. • Portal vein=9 mm • Spleen, biliary tree, gall bladder were NL. • No ascitis.

9. COLER DOPLER SONOGRAPHY • Hepatic veins( right, left and middle) were patent with normal flow. • Portal and splenic veins were patient with hepatopethal flow. • There was no sign of collateral formation.

10. Abdominal CT Angiography • Liver, spleen, stomach, biliary system, and gall bladder were NL. • No ascitis • Hepatic veins, portal and splenic veins were NL. • There was no collateral formation. • Arterial system were NL.

11. Endosonography • There was varices in distal Esophagus, stomach & duodenum were NL.

12. Colonoscopy • Anus, rectum, sigmoid, descending, transverse ,ascending and cecum were NL.

13. Dermatology consult • The patient is a case of “ Nevic Port Wine syndrome, segmental sub type”. • This syndrome is associated with multiple nevics as hemangiomas & varices in visceral organs like, meningium, eye and GI tract.

14. Ophthalmologic consult • The anterior chamber, viterous and retina was normal. • There was no hemangioma. Neurologic consult The neurologic exam was normal .

15. UGI Endoscopy

16. Date:1385/6/11 • Esophagus:Crico-pharyngeus ,  upper third and  middle third were normal. 2 rows of Grade 1 and 2 rows of Grade 2 varices with red sign were found in  lower third. ____________________________Stomach:Antrum and  pre-pyloric area were normal. Snake skin appearance was seen in  fundus and  body. Stomach varices were observed in  fundus and without stigmata of bleeding. ____________________________Duodenum:Bulb and  2nd part were normal. • Recommendation:E.V.L.

17. Date:1385/8/29 Esophagus:2 rows of Grade 1 and 1 row of Grade 2 scleorosed varices (1 mm wide) , without bleeding were found in  lower third. ____________________________Stomach:Snake skin appearance was seen in  body. Stomach varices were observed in  fundus. ____________________________Duodenum:Bulb and  2nd part were normal.

18. Port wine stain or nevus flammeus • The port wine stain is a cavernous hemangioma consisting of dilated blood vessels. • It is associated with the Sturge-Weber syndrome. • This lesion is congenital and usually covers the eye and nearby facial skin, typically in the distribution of a branch of the trigeminal nerve .

19. It does not blanch with pressure. • It may be associated with ocular and leptomeningeal vascular hamartomas as well as glaucoma and retinal detachment. • Argon laser therapy has been somewhat successful at removing these lesions .

21. Sturge-Weber syndrome • rare congenital vascular disorder • affects capillary size blood vessels. • It is not a heritable disorder. • recurrence is unlikely. • somatic mutations in fetal ectodermal tissues that cause inappropriate control or maturation of capillary blood vessel formation.

22. CLINICAL FEATURES • characterized by a facial angioma (port-wine stain) • leptomeningeal angioma . • Ocular • and neurologic abnormalities.

23. Cutaneous manifestations • port-wine stain is the most common type of vascular malformation, occurring in 0.3 percent of newborn infants. However, only a small proportion of children with port-wine stains have SWS. • In SWS, the port-wine stain typically is present on the forehead and upper eyelid, primarily in the distribution of the first or second division of the trigeminal nerve .

24. The distribution of the cutaneous angioma influences the risk of an associated leptomeningeal angioma. • Leptomeningeal angioma occurs in approximately 90 percent of cases when the port-wine stain involves both the upper and lower eyelids, compared to 10 percent when only one eyelid is affected.

25. The skin lesion usually is obvious at birth. However, its appearance changes with age and its size increases as the patient grows. • In the newborn, the lesion is flat and usually light pink in color. • It typically darkens with age to a deep red, port-wine appearance, and vascular ectasias develop .

27. The vascular ectasias produce nodularity and superficial blebbing, which lead to overgrowth of the underlying soft tissues and sometimes the bone.

28. Vascular lesions and congenital nevi

29. VASCULAR LESIONS • There are two general categories of vascular lesions: • 1) benign vascular neoplasms 2)vascular malformations. • Benign vascular neoplasms, such as hemangiomas, are characterized by proliferation of endothelial cells, while vascular malformations have normal endothelial turnover.

30. Hemangiomas • Hemangiomas, which are also called infantile hemangiomas are the most common benign tumors of infancy. • They occur in up to 10 percent of infants, generally within the first few weeks of life.

31. Vascular malformations • Vascular malformations are anomalies of morphogenesis and are always congenital. • Unlike neoplasms, endothelial turnover is normal. • They are categorized as capillary, venous, arterial, lymphatic, or combined groups . • or as low-flow (capillary, venous, lymphatic, or combination) and high-flow (arterial, arteriovenous) lesions.

32. Vascular malformations are always present at birth but often are clinically subtle. • They become more apparent over time as they slowly expand in proportion to the infant's overall growth. • There is progressive ectasia secondary to changes in blood or lymphatic flow, pressure associated with trauma, or hormonal changes such as at puberty.

33. Port wine stains • Port wine stains (PWS), which are capillary malformations, • are uncommon (0.1 to 0.3 percent of newborns) • low flow malformations that can occur anywhere on the body

34. The lesions are pink or red patches that are unilateral in 85 percent of cases . • They enlarge proportionally to the child's growth and persist in approximately 40 to 60 percent of affected patients. • While most PWS are isolated anomalies, they may be associated with developmental defects.

35. Sturge-Weber syndrome • is a rare congenital but not hereditary vascular disorder characterized by a facial capillary malformation and an associated leptomeningeal vascular malformation. These malformations may be associated with specific ocular (predominantly glaucoma) and neurologic abnormalities, including seizures, hemiparesis, mental retardation, and behavior problems.

36. Klippel-Trenaunay syndrome • is an extensive PWS with underlying venous and/or lymphatic malformations involving an extremity. • Increased angiogenesis is a mechanism for these lesions, and mutations in the gene for an angiogenic factor (VG5Q) that result in increased transcription or activity have been identified in some patients with this disorder . • VG5Q is expressed in blood vessels, is secreted during vessel formation, and promotes endothelial cell proliferation.

37. Hepatic vascular anomalies in infancy: a twenty-seven-year experience. • SO - J Pediatr 1996 Sep;129(3):346-54.

38. Infantile hemangioma and arteriovenous malformation (AVM) of the liver have a similar presentation but a different natural history.

39. Pharmacologic treatment is used for symptomatic multiple liver hemangiomas. • Embolization allows interim control of heart failure. • A decreased mortality rate after interferon alfa-2a therapy is encouraging.

40. We recommend combined embolization and surgical resection for hepatic AVM and for solitary symptomatic hemangioma,if drug therapy fails.

41. An unusual cause of upper gastrointestinal haemorrhage Gut 2005;54:343

42. Clinical presentation • A 59 year old man presented with melena. • He had a history of iron deficiency anaemia for the past five years that required oral iron supplements intermittently. • Previous oesophagogastroduodenoscopy and colonoscopy were negative. • Physical examination disclosed bluish vascular lesions on the upper trunk and undersurface of the tongue .

44. The patient underwent capsule endoscopy which showed a single active bleeding vascular lesion of the small bowel . • The patient then proceeded to a segmental resection of the involved gut.

45. Segmental resection of the involved gut

46. Histological examination of the removed lesion disclosed cavernous haemangiomas compatible with blue rubber bleb nevus syndrome (BBRBNS).

47. BRBNS • is characterised by haemangiomas in the skin, gastrointestinal tract, and other viscera. • The most common mode of presentation of BRBNS is gastrointestinal bleeding.

48. Lesions are most commonly found in the small intestine and distal large bowel and are typically discrete mucosal nodules with a central bluish nipple, although they may be flat, macular, or polypoid. • BRBNS may affect several successive generations by autosomal dominant inheritance caused by a mutation on chromosome 9p.

49. Association of solitary, segmental hemangiomas of the skin with visceral hemangiomatosis • Arch Dermatol. 2004 May;140(5):591-6.

50. Multiple hemangiomas of the skin have traditionally been recognized as a clue to potential visceral hemangiomas. • Recently, hemangiomas have been recognized to have subcategories, localized and segmental, which correlate with risk of complications.