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Patologie Immuni & Patologie Immuni &
Malattie OrfaneMalattie OrfaneTorino Torino –– 2222--24 Gennaio 200924 Gennaio 2009
Patologie Immuni & Patologie Immuni &
Malattie OrfaneMalattie OrfaneTorino Torino –– 2222--24 Gennaio 200924 Gennaio 2009
North America & North Europe 0,2 - 6,6 /100.000North America & North Europe 0,2 - 6,6 /100.000
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Behçet disease Epidemiology of a not so rare disease
North America & North Europe 0,2 - 6,6 /100.000North America & North Europe 0,2 - 6,6 /100.000North America & North Europe 0,2 - 6,6 /100.000
Far & Middle East 13,5 - 20/100.000
North America & North Europe 0,2 - 6,6 /100.000
Far & Middle East 13,5 - 20/100.000
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Behçet disease Epidemiology of a common disease
North America & North Europe 0,2 - 6,6 /100.000North America & North Europe 0,2 - 6,6 /100.000North America & North Europe 0,2 - 6,6 /100.000
Far & Middle East 13,5 - 20/100.000
Turkey 80 - 370 / 100,000
North America & North Europe 0,2 - 6,6 /100.000
Far & Middle East 13,5 - 20/100.000
Turkey 80 - 370 / 100,000
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Behçet disease Epidemiology of a common disease
North America & North Europe 0,2-6,6/100.000Far & Middle East 13,5-20/100.000Turkey 80-370 / 100,000
Age 20-40 yrs
North America & North Europe 0,2-6,6/100.000Far & Middle East 13,5-20/100.000Turkey 80-370 / 100,000
Age 20-40 yrs
Sex Men prevalence(Middle East)Female prevalence(Far East & North Europe)
Severity More severe in Young MenMiddle & Far East
Sex Men prevalence(Middle East)Female prevalence(Far East & North Europe)
Severity More severe in Young MenMiddle & Far East
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Behçet disease Definition
Behcet's disease is a chronic, relapsing vasculitis involving arterial and venous blood vessels of all sizes
Behcet's disease is a chronic, relapsing vasculitis involving arterial and venous blood vessels of all sizesand venous blood vessels of all sizesleading to several systemic manifestations….
and venous blood vessels of all sizesleading to several systemic manifestations….
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Lesions• “punched out” or “flask shaped” ulcers involving both the submucosa and the muscularis propria, especially in the ileo-ciecal region, less frequenltly in the esophagus and rarely in the stomach and duodenum
Lesions• “punched out” or “flask shaped” ulcers involving both the submucosa and the muscularis propria, especially in the ileo-ciecal region, less frequenltly in the esophagus and rarely in the stomach and duodenum
Griffin JW et al. South Med J 1982Anti M et al. J Clin Gastroenterol 1986Powderly WG et al. Ir J Med Sci 1987Stringer DA et al. Pediatr Radiol 198
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Chou SJ et al J Gastrointest Surg 2007Choi IJ et al. Dis Colon Rectum 2000
Kin Js et al. Endoscopy 2000
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Entero BehçetTreatment
Glucocorticoids plus Azathiopine / 6-mercaptopurine• Prednisone 0.5 to 1.0 mg/kg daily• Azathioprine 2.5 – 2.5 mg/k / daily
Infliximab3 to 5 mg/kg at 0, 2, and 6 weeks, followed by 5 mg/kg every 8 weeks3 to 5 mg/kg at 0, 2, and 6 weeks, followed by 5 mg/kg every 8 weeks(Travis SP et al , Gut 2001; Kram MT et al, Dis Colon Rectum. 2003; Naganuma M et al, Inflamm Bowel Dis 2008; Lee JH et al Korean J Intern Med 2007))
Thalidomide 2 mg/kg per day, (Yasui K et al, J Pediatr 2003; Yasui K et al Inflamm Bowel Dis 2008)
Cyclosporin
Surgery
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Entero BehçetDiagnosis
……the problem is not to assess the presence of GI involvement in a patient with a known Behçet disease, but ……
……the problem is not to assess the presence of GI involvement in a patient with a known Behçet disease, but …… a known Behçet disease, but ……
to make a diagnosis of Behçet syndrome in a patient with GI ulcers
a known Behçet disease, but ……
to make a diagnosis of Behçet syndrome in a patient with GI ulcers
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
……..severity and relapse rates of intestinal Behçet's disease not associated with ASCA expression. ASCA pos.ve pts more likely to receive surgical treatment.
……..severity and relapse rates of intestinal Behçet's disease not associated with ASCA expression. ASCA pos.ve pts more likely to receive surgical treatment.
Fresko I et al. Clin Exper Rheumatol 2005Choi CH et al. Dis Colon Rectum 2006
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Entero BehçetDiagnosis
• Barium Studies
• Endoscopy• Upper GI Endoscopy• Colonoscopy• Small Bowel Capsule Endoscopy
• Barium Studies
• Endoscopy• Upper GI Endoscopy• Colonoscopy• Small Bowel Capsule Endoscopy• Colonoscopy• Small Bowel Capsule Endoscopy
• Biopsy
• Serology
• International Diagnostic Criteria
• Colonoscopy• Small Bowel Capsule Endoscopy
• Biopsy
• Serology
• International Diagnostic Criteria
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Entero BehçetInternational Diagnostic Criteria
Recurrent Oral Aphthae (three times in one year)
plus two of the following in the absence of other systemic diseases:
• Recurrent genital aphthae
• Eye lesions (including anterior or posterior uveitis, cells in vitreous on slit
Recurrent Oral Aphthae (three times in one year)
plus two of the following in the absence of other systemic diseases:
• Recurrent genital aphthae
• Eye lesions (including anterior or posterior uveitis, cells in vitreous on slit • Eye lesions (including anterior or posterior uveitis, cells in vitreous on slit
lamp examination, or retinal vasculitis, observed by an ophthalmologist)
lesions, or acneiform nodules consistent with Behcet's)
• A positive pathergy test (a papule 2 mm or more in size developing 24 to
48 hours after oblique insertion of a 20 to 25 gauge needle 5mm into the skin,
generally performed on the forearm)
International Study Group for Behcet's Disease. Lancet 1990
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Entero BehçetSensitivity & specificity of Behçet Diagnostic criteria
Sensitivity Specificity
International 95% 100%
Sensitivity Specificity
International 95% 100%International 95% 100%
Japanese 100% 95%
Mason & Barnes 100% 94%
International 95% 100%
Japanese 100% 95%
Mason & Barnes 100% 94%
International Study Group for Behcet's Disease. Lancet 199Tunc R etr al. Clin Exp Rheumatol 2001
Chang HK et al Clin Exp Rheumatol 2004
12° Convegno Patologie Immuni & Malattie Orfane , Torino 22-24 gennaio 2009
Entero BehçetInternational Diagnostic Criteria
Recurrent Oral Aphthae (three times in one year)
plus two of the following in the absence of other systemic diseases:
• Recurrent genital aphthae
• Eye lesions (including anterior or posterior Uveitis , cells in vitreous on slit
Recurrent Oral Aphthae (three times in one year)
plus two of the following in the absence of other systemic diseases:
• Recurrent genital aphthae
• Eye lesions (including anterior or posterior Uveitis , cells in vitreous on slit • Eye lesions (including anterior or posterior Uveitis , cells in vitreous on slit
lamp examination, or retinal vasculitis, observed by an ophthalmologist)
• Gastrointestinal Symptoms (common)• Gastrointestinal disease (more or less frequent depending on the geographical area: unfrequent in in Italy and middle east – common in far east (Japan, Korea)•Severity is generally greater in men. The greatest morbidity and mortality occurs with ocular disease (affecting up to two-thirds of patients), vascular disease (affecting up to one-third of patients), and central nervous system disease (affecting 10 to 20 percent of patients). Cutaneous and articular manifestations are common. Renal disease and peripheral nervous system involvement are less common than in other vasculitides
Behçet disease Epidemiology
Behcet's disease is more common (and often more severe) along the ancient silk road, which extends from eastern Asia to the Mediterranean [4]. It is most common in Turkey (80 to 370 cases per 100,000) while the prevalence ranges from 13.5 to 20 per 100,000 in Japan, Korea, China, Iran, Iraq, and Saudi Arabia [4]. By comparison, the prevalence is from 1:15,000 to 1:500,000 in Northern American (Olmsted County, Minnesota) and Northern European countries. It is somewhat more common in men in the eastern Mediterranean area and in women in north
20° Congresso Regionale ACOI , 31 ottobre 2008
more common in men in the eastern Mediterranean area and in women in north European countries, and typically affects young adults 20 to 40 years of age. The disease appears to be more severe in young, male, and Middle Eastern or Far Eastern patients
FARE TABELLA IMPOSTANDOLA TUTTA SU UN RAPPORTO …./100.000
clinical manifestations vary among different patients and populations. Men and women have different propensities to develop the disease, but this varies among populations. As an example, Behcet's is more common in men in the Middle East and in women in Japan and Korea [6].
Behçet disease Vascular disease
Most clinical manifestations of Behcet's disease are due to vasculitis involving:
Most clinical manifestations of Behcet's disease are due to vasculitis involving:
Hypercoagulable states(Factor V Leiden mutation, Prothrombin gene mutation, Antiphospholipid antibody syndrome, Antithrombin III deficiency, Protein C deficiency, Protein S deficiency )
Paroxysmal nocturnal hemoglobinuria
JAK2 mutations
Behcet's disease
Membranous webs of the inferior vena cava and/or the hepatic veins