Introduction

Overview about Silk Road disease

Silk Road disease is also referred to as Behçet’s disease. It is a long-term and multi-systemic inflammatory disease that happens as a result of blood vessels being inflamed. It can lead to problems in the mouth and the genital region, apart from affecting other organs such as the eyes.

There is no data that can suggest if Silk Road disease is a hereditary condition. Most of the cases are random.

It belongs to the category of rare diseases.

 

Alternative names

What are the other synonyms for Silk Road disease?

• Morbus Behçet.
• Gilbert-Behçet disease.
• Adamantiades-Behçet disease.
• Behçet syndrome.

 

 Key Facts & Statistics

Key facts and statistics that surround Behçet’s disease

• In 1937, Dr. Hulusi Behçet from Instanbul, Turkey gave the first description of the condition. He described the classical triad associated with this condition (these manifestations may not always be present):

1. Recurrent oral aphthous ulcers.
2.  Ocular lesions.
3.  Genital ulcers.

• Silk Road disease is seen in the entire globe. Individuals assigned male at birth (AMAB) and those assigned female at birth (AFAB) get affected equally.
• Deaths occur in 5 out of 100 patients mostly due to intestinal perforations, aneurysms and  strokes.
• In Northern Turkey, Silk Road disease affects 420 out of 100,000  people.
• There are few cases in the US, with statistics stating 5.2 cases per 100,000 persons.
• This condition is not contagious (it can not be spread from one person to another).
• Only about 2,000 persons have this condition in the UK.

 

Risk Factors

What are the risk factors for Silk Road disease?

• Age. Being aged between 20 and 40 years old.
• Sex. Men have a higher likelihood of developing Behçet’s disease as compared to women.
• Geographical habitation. The geographical pattern/ sequence of the condition gives a suggestion that Silk Road disease is distributed along the ancient Silk Route (highest incidence has been reported in the Middle and Far East). Living in areas where the disease is more common increases the risk. These areas include Northern Turkey, the Mediterranean basin and Middle East and the Far East.
• Genetics. Individuals with specific genes such as HLA-B5 OR HLA-B51 have more risk.

 

 Causes

What are the causes of Silk Road disease?

• The exact causes of Behçet’s disease are not yet established. However, it is believed to be an autoimmune condition.
• Silk Road disease involves inflammation of the blood vessels. This is referred to as vasculitis. It is believed to be due to a disorder within the immune system.
• The  factors that trigger problems within the immune system are not clear yet. However, 2 factors play a role:

1.  Genetics. There is a tendency of the disease being more common among specific ethnic groups where genes linked to this condion may be more common.
2.  Environmental factors. In persons from an at-risk ethnicity who live out of their native nation, there are lower rates Behcets disease.

 

 Signs & Symptoms

What are the signs and symptoms of Silk Road disease?

• The triad of Behçet’s syndrome is:

1.  Oral ulcers. Recurrent oral aphthous ulcers. About 98% of patients with behcets syndrome have frequent ulceration in the mouth.
2.  Genital ulcers. Painful, red and open sores located on the scrotum (in males) or the vulva (in females).
3.  Eye inflammation. Retinal vasculitis, retinal hemorrhage, blurry vision, uveitis, hypopyon.

 

• Other symptoms are:

1. Skin problems. There may be development of acne-like sores, boils, red patches or lumps under the skin.
2. Inflammation of the veins and arteries. Inflammation of large arteries can lead to formation of aneurysms.
3. Brain (meningeal) inflammation.
4.  Joint problems. Swelling and pain can occur in various joints. This kind of joint issue is not similar to osteoarthritis or rheumatoid arthritis.
5. Thrombosis. Inflamed vessels raise the chances of blood clot formation.
6. Fatigue. Extreme tiredness is a very common symptom of this condition.
7. Gastrointestinal tract manifestations such as blood in stool or pain in the abdomen. Blood in stool is caused by lesions. These lesions cause the intestines to bleed and even rupture.
8. Involvement of other organs such as kidneys and lungs or large vessels such as the aorta.

 

• Often times, Behçet’s disease can cause other sugns and symptoms such as:

1.  Double vision.
2.  Dizziness.
3.  Fainting.
4.  Numb or weak limbs.

 

 Diagnostic Procedures  & Tests

How is Silk Road disease diagnosed?

There is no single diagnostic test that can pinpoint Silk Road disease.

Diagnosis is made based on presenting signs and symptoms, including frequency at which oral ulcers come back (typically at least thrice per year), in addition to at least 2 of the the following:

•  Inflammation of the eyes.
• Genital sores.
• Skin problems.

Positive pathergy test. Pathergy test is used to measure or quantify the increased sensitivity of the skin that occurs in patients with Silk Road disease. The physician makes a small pin-prick on the skin and the appearance of a characteristic red spot around the pin-prick shows that the result is positive. However, this is not a definitive diagnostic test. Therefore, presenting su=signs and symptoms must be taken into account.

Other conditions that mimic Silk Road disease should also be ruled out. This can be achieved through ordering blood tests to rule out conditions such as Crohn’s disease.

 

 Treatment and Management

Does Silk Road disease have a cure?

No. Currently, there is no cure for Behçet’s disease.

How is Silk Road disease treated?

• Treatment strategies are based on presenting signs and symptoms.
• Drug regimens are prescribed to help manage these signs and symptoms.

1. Corticosteroids. They suppress inflammation along with the immune system. They are the main form of treatment. Corticosteroids include prednisone.
2. Apremilast. It is apprived for the treatment of oral ulcers in patients with Silk Road disease. It is taken orally.
3. Colchicine. It is used for genital sores and mouth pain.
4. Immunosupressant medications; methotrexate, azathioprine. Again, biologics such as infliximab and etanercept are used for more severe cases.
5. Eye drops for eye infections.
6. Skin ointments for dermal problems.

 

Differential Diagnosis

• Several conditions can mimic the clinical features observed in Silk Road disease.
• Therefore, these conditions must be ruled out before a diagnosis of Silk Road disease is made:

1.  Inflammatory bowel disease (IBD).
2.  Systemic lupus erythematosus (SLE).
3.  Herpetic infections.
4.  Seronegative arthritis.

 

Note that in patients treated with interleukin (IL)-17 inhibitots, there may be a manifestation of a Behçet’-type condition.

 

 Complications

What are the complications of Silk Road disease?

• Significant morbidity and mortality.
• Miscarriage. This can occur due to vasculitis of the placenta.
• Permament blindness.
• Coronary or pulmonary arterial aneurysmal rupture.
• Death.

 

Coping

How can people cope with Silk Road disease?

• Take rest during flares. Make attempts at minimizing stress.
• Be active when you have energy. Perform physical exercises to keep fit and improve moods.
• Connect with other people. Join support groups.