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Behçet's disease

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Title: Behçet's disease  
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Behçet's disease

Behçet's disease or Behçet disease (), sometimes called Behçet's syndrome, Morbus Behçet, Behçet-Adamantiades syndrome,[1] or Silk Road disease, is a rare immune-mediated small-vessel aneurysms or severe neurological complications.[3]

Contents

  • Signs and symptoms 1
    • Skin and mucosa 1.1
    • Ocular system 1.2
    • Bowels 1.3
    • Lungs 1.4
    • Musculoskeletal system 1.5
    • Neurological system 1.6
    • Cardiac 1.7
  • Cause 2
  • Pathophysiology 3
  • Diagnosis 4
    • Diagnostic guidelines 4.1
  • Treatment 5
  • Epidemiology 6
  • Pregnancy 7
  • History 8
  • References 9
  • Further reading 10
  • External links 11

Signs and symptoms

A patient with hypopyon which can be seen in anterior uveitis in a patient with Behcet's disease.
Left eye blood vessels
Funduscopic photo left eye centered on the optic disc.

Skin and mucosa

Nearly all patients present with some form of painful oral mucocutaneous ulcerations in the form of aphthous ulcers or non-scarring oral lesions.[3] The oral lesions are similar to those found in inflammatory bowel disease and can be relapsing.[3] Painful genital ulcerations usually develop around the anus, vulva, or scrotum and cause scarring in 75% of the patients.[3] Additionally, patients may present with erythema nodosum, cutaneous pustular vasculitis, and lesions similar to pyoderma gangrenosum.[3]

Ocular system

Inflammatory eye disease can develop early in the disease course and lead to permanent vision loss in 20% of cases. Ocular involvement can be in the form of posterior uveitis, anterior uveitis, or retinal vasculitis. Anterior uveitis presents with painful eyes, conjuctival redness, hypopyon, and decreased visual acuity, while posterior uveitis presents with painless decreased visual acuity and visual field floaters. A rare form of ocular (eye) involvement in this syndrome is retinal vasculitis which presents with painless decrease of vision with the possibility of floaters or visual field defects.

Optic nerve involvement in Behçet's disease is rare, typically presenting as progressive optic atrophy and visual loss. However, cases of acute optic neuropathy (specifically anterior ischemic optic neuropathy) have also been reported to occur.[4] Optic nerve atrophy has been identified as the most common cause of visual impairment. Behçet's disease may result in primary or secondary optic nerve involvement. Papilledema as a result of dural sinus thrombosis[5] and atrophy resulting from retinal disease, have been characterized as secondary causes of optic nerve atrophy in Behçet's disease.[6][7]

Signs and symptoms of acute optic neuropathy include painless loss of vision which may affect either one or both eyes, reduced visual acuity, reduced color vision, relative afferent pupillary defect, central scotoma, swollen optic disc, macular edema, or retrobulbar pain. When these symptoms occur with concurrent mucocutaneous ulcerations, they raise suspicion of acute optic neuropathy in Behçet's Disease. Progressive optic atrophy may result in decreased visual acuity or color vision. Intracranial hypertension with papilledema may be present.

Bowels

GI manifestations include abdominal pain, nausea, and diarrhea with or without blood, and they often involve the ileocecal valve.[3] Many patients with BD often complain about abdominal tenderness, bloating, and generic abdominal discomfort that closely mimics irritable bowel syndrome.

Lungs

Lung involvement is typically in the form of hemoptysis, pleuritis, cough, or fever, and in severe cases can be life-threatening if the outlet pulmonary artery develops an aneurysm which ruptures causing severe vascular collapse and death from bleeding in the lungs.[3] Nodules, consolidations, cavities and ground glass lesions are common in patients with pulmonary involvement.[8] Pulmonary artery thrombosis may occur.

Musculoskeletal system

Arthralgia is seen in up to half of patients, and is usually a non-erosive poly or oligoarthritis primarily of the large joints of the lower extremities.[3]

Neurological system

CNS involvement most often occurs as a chronic meningoencephalitis. Lesions tend to occur in the brainstem, the basal ganglia and deep hemispheric white matter and may resemble those of MS. Brainstem atrophy is seen in chronic cases.

Neurological involvements range from

  • Datagenno - Behcet's Syndrome
  • Behçet's disease at DMOZ
  • Behçet's Syndrome Centres of Excellence

External links

  • Yamauchi Y, Cruz JM, Kaplan HJ, Goto H, Sakai J, Usui M (2005). "Suspected simultaneous bilateral anterior ischemic optic neuropathy in a patient with Behçet's disease". Ocul. Immunol. Inflamm. 13 (4): 317–25.  
  • Brissaud P, Laroche L, de Gramont A, Krulik M (March 1985). "Digital angiography for the diagnosis of dural sinus thrombosis in Behçet's disease". Arthritis Rheum. 28 (3): 359–60.  
  • el-Ramahi KM, al-Kawi MZ (September 1991). "Papilloedema in Behçet's disease: value of MRI in diagnosis of dural sinus thrombosis". J. Neurol. Neurosurg. Psychiatr. 54 (9): 826–9.  
  • Fujikado T, Imagawa K (1994). "Dural sinus thrombosis in Behçet's disease—a case report". Jpn. J. Ophthalmol. 38 (4): 411–6.  

Further reading

  1. ^ Neville BW, Damm DD, Allen CM, Bouquot JE. (2008). Oral & maxillofacial pathology (3rd ed.). Philadelphia: W.B. Saunders. p. 336.  
  2. ^ "Glossary,". Archived from the original on 19 April 2009. Retrieved 2009-03-28. 
  3. ^ a b c d e f g h i j k Bolster MB (2009). MKSAP 15 Medical Knowledge Self-assessment Program: Rheumatology. Philadelphia, Pa: American College of Physicians.  
  4. ^ Eye (2011-01-07). "Access : A case of anterior ischemic optic neuropathy associated with Behcet's disease : Eye". Nature.com. Retrieved 2011-08-03. 
  5. ^ a b Fujikado, T; Imagawa K (1994). "Dural sinus thrombosis in Behçet's disease—a case report". Japanese Journal of Ophthalmology 38 (4): 411–416.  
  6. ^ a b c d e f g Ozdal PC, Ortaç S, Taşkintuna I, Firat E (2002). "Posterior segment involvement in ocular Behçet's disease". Eur J Ophthalmol 12 (5): 424–31.  
  7. ^ a b Kansu T, Kirkali P, Kansu E, Zileli T (December 1989). "Optic neuropathy in Behçet's disease". J Clin Neuroophthalmol 9 (4): 277–80.  
  8. ^ a b c Hatemi G, Seyahi E, Fresko I, Hamuryudan V (2012) Behçet's syndrome: a critical digest of the recent literature. Clin Exp Rheumatol
  9. ^ editors, Steven S. Agabegi, Elizabeth Agabegi ; contributing author, Adam C. Ring. Step-up to medicine (3rd ed. ed.). Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins. p. 266.  
  10. ^ "Behcet Disease: Overview - eMedicine Dermatology". Retrieved 2009-03-28. 
  11. ^ Lee, YJ; Horie, Y; Wallace, GR; Choi, YS; Park, JA; Choi, JY; Song, R; Kang, YM; Kang, SW; Baek, HJ; Kitaichi, N; Meguro, A; Mizuki, N; Namba, K; Ishida, S; Kim, J; Niemczyk, E; Lee, EY; Song, YW; Ohno, S; Lee, EB (Sep 1, 2013). "Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease.". Annals of the rheumatic diseases 72 (9): 1510–6.  
  12. ^ Ohno S, Ohguchi M, Hirose S, Matsuda H, Wakisaka A, Aizawa M (September 1982). "Close association of HLA-Bw51 with Behçet's disease". Arch. Ophthalmol. 100 (9): 1455–8.  
  13. ^ Durrani K, Papaliodis GN (2008). "The genetics of Adamantiades-Behcet's disease". Semin Ophthalmol 23 (1): 73–9.  
  14. ^ Hou S, Yang P, Du L, Zhou H, Lin X, Liu X, Kijlstra A (October 2008). "SUMO4 gene polymorphisms in Chinese Han patients with Behcet's disease". Clin. Immunol. 129 (1): 170–5.  
  15. ^ Ahn JK, Park YG (October 2007). "Human leukocyte antigen B27 and B51 double-positive Behçet uveitis". Arch. Ophthalmol. 125 (10): 1375–80.  
  16. ^ Yanagihori H, Oyama N, Nakamura K, Mizuki N, Oguma K, Kaneko F (July 2006). "Role of IL-12B promoter polymorphism in Adamantiades-Behcet's disease susceptibility: An involvement of Th1 immunoreactivity against Streptococcus Sanguinis antigen". J. Invest. Dermatol. 126 (7): 1534–40.  
  17. ^ a b International Study Group for Behçet's Disease (May 1990). "Criteria for diagnosis of Behçet's disease". Lancet 335 (8697): 1078–80.  
  18. ^ Taylor, J; Glenny, AM; Walsh, T; Brocklehurst, P; Riley, P; Gorodkin, R; Pemberton, MN (Sep 25, 2014). "Interventions for the management of oral ulcers in Behçet's disease.". The Cochrane database of systematic reviews 9: CD011018.  
  19. ^ CMDT (Current Medical Diagnosis & Treatment) 2007, Chapter 20, page 872
  20. ^ Sfikakis PP, Theodossiadis PG, Katsiari CG, Kaklamanis P, Markomichelakis NN (2001). "Effect of infliximab on sight-threatening panuveitis in Behcet's disease". Lancet 358 (9278): 295–6.  
  21. ^ Sfikakis PP (2002). "Behçet's disease: a new target for anti-tumour necrosis factor treatment". Ann Rheum Dis. 61 Suppl 2 (Suppl 2): ii51–3.  
  22. ^ Melikoglu M, Fresko I, Mat C, Ozyazgan Y, Gogus F, Yurdakul S, Hamuryudan V, Yazici H (2005). "Short-term trial of etanercept in Behcet's disease: a double blind, placebo controlled study". J Rheumatol 32 (1): 98–105.  
  23. ^ Alpsoy E, Durusoy C, Yilmaz E, Ozgurel Y, Ermis O, Yazar S, Basaran E (2002). "Interferon alfa-2a in the treatment of Behcet disease: a randomized placebo-controlled and double-blind study". Arch Dermatol 138 (4): 467–71.  
  24. ^ Kotter I, Zierhut M, Eckstein AK, Vonthein R, Ness T, Gunaydin I, Grimbacher B, Blaschke S, Meyer-Riemann W, Peter HH, Stubiger N (2003). "Human recombinant interferon alpha-2a for the treatment of Behçet's disease with sight threatening posterior or panuveitis". Br J Ophthalmol 87 (4): 423–31.  
  25. ^ Hamuryudan V, Ozyazgan Y, Fresko Y, Mat C, Yurdakul S, Yazici H (2002). "Interferon alpha combined with azathioprine for the uveitis of Behcet's disease: an open study". Isr Med Assoc J 4 (11 Suppl): 928–30.  
  26. ^ Yurdakul S, Mat C, Tuzun Y, Ozyazgan Y, Hamuryudan V, Uysal O, Senocak M, Yazici H (2001). "A double-blind trial of colchicine in Behcet's syndrome". Arthritis Rheum 44 (11): 2686–92.  
  27. ^ Hamuryudan V, Mat C, Saip S, Ozyazgan Y, Siva A, Yurdakul S, Zwingenberger K, Yazici H (1998). "Thalidomide in the treatment of the mucocutaneous lesions of the Behcet syndrome. A randomized, double-blind, placebo-controlled trial". Ann Intern Med 128 (6): 443–50.  
  28. ^ Matsuda T, Ohno S, Hirohata S, Miyanaga Y, Ujihara H, Inaba G, Nakamura S, Tanaka S, Kogure M, Mizushima Y (2003). "Efficacy of rebamipide as adjunctive therapy in the treatment of recurrent oral aphthous ulcers in patients with Behcet's disease: a randomised, double-blind, placebo-controlled study". Drugs R D 4 (1): 19–28.  
  29. ^ Sharquie KE, Najim RA, Abu-Raghif AR (2002). "Dapsone in Behcet's disease: a double-blind, placebo-controlled, cross-over study". J Dermatol 29 (5): 267–79.  
  30. ^ Voros GM, Sandhu SS, Pandit R (2006). "Acute optic neuropathy in patients with Behçet's disease. Report of two cases". Ophthalmologica 220 (6): 400–5.  
  31. ^ Seider N, Beiran I, Scharf J, Miller B (November 2001). "Intravenous immunoglobulin therapy for resistant ocular Behçet's disease". Br J Ophthalmol 85 (11): 1287–8.  
  32. ^ Shutty B, Garg KJ, Swender D, Chernin L, Tcheurekdjian H, Hostoffer R (July 2012). "Optimal use of ivig in a patient with Behçet syndrome and common variable immunodeficiency". Ann. Allergy Asthma Immunol. 109 (1): 84.  
  33. ^ Beales IL (December 1998). "Gastrointestinal involvement in Behçet's syndrome". Am. J. Gastroenterol. 93 (12): 2633.  
  34. ^ Behcet's syndrome (Medline Plus).
  35. ^ Triolo G, Accardo-Palumbo A, Dieli F, Ciccia F, Ferrante A, Giardina E, Licata G (May 2002). "Humoral and cell mediated immune response to cow's milk proteins in Behçet's disease". Ann. Rheum. Dis. 61 (5): 459–62.  
  36. ^ Behcet's disease.
  37. ^ Escudier M, Bagan J, Scully C (March 2006). "Number VII Behçet's disease (Adamantiades syndrome)". Oral Dis 12 (2): 78–84.  
  38. ^ a b Krause L, Köhler AK, Altenburg A, Papoutsis N, Zouboulis CC, Pleyer U, Stroux A, Foerster MH (May 2009). "Ocular involvement in Adamantiades-Behçet's disease in Berlin, Germany". Graefes Arch. Clin. Exp. Ophthalmol. 247 (5): 661–6.  
  39. ^ Hatemi G, Seyahi E, Fresko I, Hamuryudan V (2013) Behçet's syndrome: a critical digest of the 2012-2013 literature. Clin Exp Rheumatol 31(3 Suppl 77):108-117
  40. ^ a b Uzun, S.; Alpsoy, E.; Durdu, M.; Akman, A. (2003). "The clinical course of Behçet's disease in pregnancy: A retrospective analysis and review of the literature". The Journal of dermatology 30 (7): 499–502.  
  41. ^ a b Jadaon, J.; Shushan, A.; Ezra, Y.; Sela, H. Y.; Ozcan, C.; Rojansky, N. (2005). "Behcet's disease and pregnancy". Acta Obstetricia et Gynecologica Scandinavica 84 (10): 939–944.  
  42. ^ Behçet’s disease - Treatment from National Health Service. Page last reviewed: 22/08/2012
  43. ^ a b
  44. ^ H. Behçet. Über rezidivierende, aphtöse, durch ein Virus verursachte Geschwüre am Mund, am Auge und an den Genitalien. Dermatologische Wochenschrift, Hamburg, 1937, 105(36): 1152-1163. Reproduced in Viggor SF, Willis AM, Jawad ASM (2011). "Behçet's disease". Grand Rounds 11: L1–L2.  
  45. ^ Verity D H, Wallace G R, Vaughan R W, Stanford M R (2003-04-29). "Behçet’s disease: from Hippocrates to the third millennium". Ncbi.nlm.nih.gov. Retrieved 2014-01-09. 
  46. ^ B. Adamandiades. Sur un cas d'iritis à hypopyon récidivant. Annales d'oculistique, Paris, 1931, 168: 271-278.
  47. ^ Malhotra Ravi (2004). "Saudi Arabia". Practical Neurology 4 (3): 184–185.  
  48. ^ S. Saleem (2005), Neuro-Behçet's Disease: NBD, Neurographics, Vol. 4, Issue 2, Article 1.
  49. ^ Al-Araji A, Kidd DP (February 2009). "Neuro-Behçet's disease: epidemiology, clinical characteristics, and management". Lancet Neurol 8 (2): 192–204.  
  50. ^ Su SL, Way LJ, Lin RT, Peng MJ, Wu SC (March 1990). "Neuro-Behçet's disease: report of three cases with a review of the literature". Gaoxiong Yi Xue Ke Xue Za Zhi 6 (3): 155–62.  

References

Some sources use the term "Adamantiades' syndrome" or "Adamandiades-Behçet syndrome", for the work done by ICD-10 standard is "Behçet's disease". In 1991, Saudi Arabian medical researchers described neuro-Behçet's disease,[47] a neurological involvement in Behçet's disease, considered one of the most devastating manifestations of the disease.[48] The mechanism can be immune-mediated or thrombotic.[49] The term dates back to at least 1990.[50]

Behçet disease is named after Hulusi Behçet (1889–1948), the Turkish dermatologist and scientist who first recognized the syndrome in one of his patients in 1924 and reported his research on the disease in Journal of Skin and Venereal Diseases in 1936.[43][44] The name (Morbus Behçet) was formally adopted at the International Congress of Dermatology in Geneva in September 1947. Symptoms of this disease may have been described by Hippocrates in the 5th century BC, in his Epidemion (book 3, case 7).[45] Its first modern formal description was published in 1922.[43]

History

Behçet’s disease can cause male infertility, either as a result of the condition itself or of a side effect of concomitant medication such as Colchicine, which is known to lower sperm count.[42]

With Behçet's as an intercurrent disease in pregnancy, the pregnancy does not have an adverse effect on the course of Behçet's disease and may possibly ameliorate its course.[40][41] Still, there is a substantial variability in clinical course between patients and even for different pregnancies in the same patient.[40] Also, the other way around, Behçet's disease confers an increased risk of pregnancy complications, miscarriage and Cesarean section.[41]

Pregnancy

The prevalence of this disease increases from North to South. It follows a more severe course in patients with an early age of onset particularly in patients with eye and gastrointestinal involvement.[39]

In an epidemiologic study, 56% of patients with Behçet's disease developed ocular involvement at a mean age of 30.[38] Ocular involvement was the first manifestation of Behçet's disease in 8.6% of patients.[38] Ocular Behçet's with involvement of the optic nerve is rarely reported. Among patients with ocular Behçet's disease funduscopic findings of optic atrophy, and optic disc paleness have been identified with a frequency of 17.9% and 7.4%, respectively. Other fundoscopic findings include vascular sheathing (23.7%),[6] retinal hemorrhage (9%),[6] macular edema (11.3%),[6] branch retinal vein occlusion (5.8%),[6] and retinal edema (6.6%).[6] However, optic atrophy was the most significant cause of visual impairment identified in 54% of patients with ocular Behçet's disease and permanent visual impairment.[6]

The syndrome is rare in the United States, but is common in the Middle East and Asia, suggesting a possible cause endemic to the tropical areas.[34] It is not associated with cancer, and links with tissue-types (which are under investigation) are not certain. It also does not follow the usual pattern for autoimmune diseases. However, one study has revealed a possible connection to food allergies, particularly to dairy products.[35] An estimated 15,000 to 20,000 Americans have been diagnosed with this disease. In the UK, it is estimated to have about 1 case for every 100,000 people.[36] Globally, males are affected more frequently than females.[37] In the United States, more females are affected than males.

Epidemiology

IVIG could be a treatment for severe[31] or complicated cases.[32][33]

Given its rarity, the optimal treatment for acute optic neuropathy in Behçet's disease has not been established. Early identification and treatment is essential. Response to ciclosporin, periocular triamcinolone, and IV methylprednisone followed by oral prednisone has been reported although relapses leading to irreversible visual loss may occur even with treatment.[30] Immunosuppressants such as interferon alpha and tumour necrosis factor antagonists may improve though not completely reverse symptoms of ocular Behçet's, which may progress over time despite treatment. When symptoms are limited to the anterior chamber of the eye prognosis is improved. Posterior involvement, particularly optic nerve involvement is a poor prognostic indicator. Secondary optic nerve atrophy is frequently irreversible. Lumbar puncture or surgical treatment may be required to prevent optic atrophy in cases of intracranial hypertension refractory to treatment with immunomodulators and steroids.

Thalidomide has also been used due to its immune-modifying effect.[27] Dapsone and rebamipide have been shown, in small studies, to have beneficial results for mucocutaneous lesions.[28][29]

Interferon alpha-2a may also be an effective alternative treatment, particularly for the genital and oral ulcers[23] as well as ocular lesions.[24] Azathioprine, when used in combination with interferon alpha-2b also shows promise,[25] and Colchicine can be useful for treating some genital ulcers, erythema nodosum, and arthritis.[26]

High dose corticosteroid therapy is often used for severe disease manifestations.[19] Anti-TNF therapy such as infliximab has shown promise in treating the uveitis associated with the disease.[20][21] Another Anti-TNF agent, etanercept, may be useful in people with mainly skin and mucosal symptoms.[22]

Current treatment is aimed at easing the symptoms, reducing inflammation, and controlling the immune system. The quality of the evidence for treating the oral ulcers associated with Behcet's, however, is poor.[18]

Treatment

Despite the inclusive criteria set forth by the International Study Group, there are cases where not all the criteria can be met and therefore a diagnosis cannot readily be made. There is however a set of clinical findings that a physician can rely upon in making a tentative diagnosis of the disease; essentially Behçet's disease does not always follow the International Study Group guidelines and so a high degree of suspicion for a patient who presents having any number of the following findings is necessary:

  • genital ulcers (including anal ulcers and spots in the genital region and swollen testicles or epididymitis in men)
  • skin lesions (papulo-pustules, folliculitis, erythema nodosum, acne in post-adolescents not on corticosteroids)
  • eye inflammation (iritis, uveitis, retinal vasculitis, cells in the vitreous)
  • pathergy reaction (papule >2 mm dia. 24-48 hrs or more after needle-prick). The pathergy test has a specificity of 95% to 100%, but the results are often negative in American and European patients[3]

According to the International Study Group guidelines, for a patient to be diagnosed with Behçet's disease,[17] the patient must have oral (aphthous) ulcers (any shape, size, or number at least 3 times in any 12 months period) along with 2 out of the following 4 "hallmark" symptoms:

Magnetic resonance venogram demonstrating occlusion of the left sigmoid and transverse sinuses.

Diagnostic guidelines

Visual acuity, or color vision loss with concurrent mucocutaneous lesions and/or systemic Behçet's symptoms should raise suspicion of optic nerve involvement in Behçet's disease and prompt a work-up for Behçet's disease if not previously diagnosed in addition to an ocular work-up. Diagnosis of Behçet's disease is based on clinical findings including oral and genital ulcers, skin lesions such as erythema nodosum, acne, or folliculitis, ocular inflammatory findings and a pathergy reaction. Inflammatory markers such ESR, and CRP may be elevated. A complete ophthalmic examination may include a slit lamp examination, optical coherence tomography to detect nerve loss, visual field examinations, fundoscopic examination to assess optic disc atrophy and retinal disease, fundoscopic angiography, and visual evoked potentials, which may demonstrate increased latency. Optic nerve enhancement may be identified on Magnetic Resonance Imaging (MRI) in some patients with acute optic neuropathy. However, a normal study does not rule out optic neuropathy. Cerebrospinal fluid (CSF) analysis may demonstrate elevated protein level with or without pleocytosis. Imaging including angiography may be indicated to identify dural venous sinus thrombosis as a cause of intracranial hypertension and optic atrophy.

There is no specific pathological testing or technique available for the diagnosis of the disease, although the International Study Group criteria for the disease are highly sensitive and specific, involving clinical criteria and a pathergy test.[3][17] Behçet's disease has a high degree of resemblance to diseases that cause mucocutaneous lesions such as Herpes simplex labialis, and therefore clinical suspicion should be maintained until all the common causes of oral lesions are ruled out from the differential diagnosis.

Diagnosis

Vasculitis resulting in occlusion of the vessels supplying the optic nerve may be the cause of acute optic neuropathy and progressive optic atrophy in Behçet's disease. Histological evaluation in a reported case of acute optic neuropathy demonstrated substitution of the axonal portion of the optic nerve with fibrous astrocytes without retinal changes.[7] CNS involvement in Behçet's may lead to intracranial hypertension most commonly due to dural venous sinus thrombosis[5] [8-10] and subsequent secondary optic atrophy.

Behçet's disease is considered more prevalent in the areas surrounding the old silk trading routes in the Middle East and in Central Asia. Thus, it is sometimes known as Silk Road Disease. However, this disease is not restricted to people from these regions. A large number of serological studies show a linkage between the disease and HLA-B51.[13] HLA-B51 is more frequently found from the Middle East to South Eastern Siberia, but the incidence of B51 in some studies was 3 fold higher than the normal population. However, B51 tends not to be found in disease when a certain SUMO4 gene variant is involved,[14] and symptoms appear to be milder when HLA-B27 is present.[15] At the current time, a similar infectious origin has not yet been confirmed that leads to Behçet's disease, but certain strains of Streptococcus sanguinis has been found to have a homologous antigenicity.[16]

HLA-B51 is strongly associated with Behçet's disease[12]

Pathophysiology

An association with the GIMAP family of genes on the long arm of chromosome 7 (7q36.1) has been reported.[11] The genes implicated were GIMAP1, GIMAP2 and GIMAP4.

The primary mechanism of the damage is an overactive immune system that seems to target the patient's own body. The involvement of a subset of T cells (Th17) seems to be important.[8] The primary cause is not well known. In fact, no one knows yet why the immune system starts to behave this way in Behçet's disease. There does however seem to be a genetic component involved, as first degree relatives of the affected patients are often affected in more than expected proportion for the general population.

The cause is not well-defined, but it is primarily characterized by auto-inflammation of the blood vessels. Although sometimes erroneously referred to as a "diagnosis of exclusion", the diagnosis can sometimes be reached by pathologic examination of the affected areas.[10]

Cause

Pericarditis is a frequent cardiac manifestation.[8] Chronic aortic regurgitation due to aortic root disease may also be seen.[9]

Cardiac

They often appear late in the progression of the disease but are associated with a poor prognosis. [3]

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