Is ankylosing spondylitis hereditary?

Written by Li Jing
Rheumatology
Updated on September 15, 2024
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Ankylosing spondylitis is a systemic autoimmune disease of unclear etiology characterized by chronic inflammation primarily affecting the axial joints, mainly involving the sacroiliac joint. The cause is unclear, and research by experts has shown that the disease tends to run in families, indicating familial clustering. It is not classified as a genetic disease, but there is both familial clustering and a genetic predisposition, meaning that if parents have the disease, their children are much more likely to develop it compared to others. Therefore, if symptoms such as lower back pain or neck stiffness occur, it is advisable to undergo thorough examinations and seek early diagnosis and treatment to delay joint deformity and control the progression of the disease.

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Written by Yang Ya Meng
Rheumatology
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What tests are done for ankylosing spondylitis?

The main laboratory indicators for ankylosing spondylitis include the following: Testing for the B27 gene, formally known as HLA-B27 gene, which is hereditary and commonly found in male patients. Second, to determine if ankylosing spondylitis is in an active phase, inflammatory markers such as erythrocyte sedimentation rate and C-reactive protein can be checked. Moreover, the diagnosis of ankylosing spondylitis must involve the sacroiliac joints being affected. Therefore, a CT scan and MRI of the sacroiliac joints can be conducted to determine if there are issues with the sacroiliac joints. If the patient shows symptoms of inflammatory lower back pain, has affected sacroiliac joints, tests positive for the B27 gene, and shows elevated inflammatory markers, then a diagnosis of ankylosing spondylitis can generally be confirmed.

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Written by Yang Ya Meng
Rheumatology
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What medicine is used for ankylosing spondylitis?

The medication for ankylosing spondylitis mainly involves three aspects. The first is non-steroidal pain-relief medications, commonly including drugs like sustained-release diclofenac sodium tablets. The second involves drugs that control the condition, commonly using medications like sulfasalazine and thalidomide. The third, which is currently the most effective, involves treatment with biologics. Common biologics include tumor necrosis factor inhibitors. However, before using biologics, it is crucial to rigorously rule out complications such as hepatitis, tuberculosis, and tumors. Only after excluding these conditions should one consider using biologics. Patients with ankylosing spondylitis should also pay attention to appropriate functional exercises in daily life to prevent the stiffening of spinal joints. (Medications should be used under the guidance of a doctor, based on the specific situation.)

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Written by Li Jing
Rheumatology
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What should I do in the late stage of ankylosing spondylitis?

Firstly, ankylosing spondylitis is an autoimmune disease primarily affecting the axial joints, but it can also present with extra-articular manifestations. Severe cases can lead to ankylosis and deformities of the spine, which are complications of late-stage ankylosing spondylitis. At this stage, surgery is needed to manage the activity of the disease. If the activity of the disease is not controlled, even joint replacement can still lead to the progression of the disease and further damage to the joint structures. For severe disabling deformities, spinal orthopedic surgery can be considered, and spinal surgery is required when an acute fracture occurs.

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Written by Na Hong Wei
Orthopedics
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Symptoms of ankylosing spondylitis

The main symptom of ankylosing spondylitis is pain, characterized by pain in the lower back and lumbar region. The pain occurs during rest and diminishes with activity; it is especially severe at night, often waking the sufferer, who then finds mild activity alleviates the pain enough to return to sleep. As the disease progresses, chest pain and restricted rib cage movement begin, due to the disease spreading to the thoracic vertebrae and eventually reaching the cervical vertebrae in later stages, resulting in difficulty moving the neck. Early physical signs include tenderness in the sacroiliac joints and paraspinal muscles. X-rays can reveal that the sacroiliac joints are often the first to be affected, usually showing sacroiliitis. Additionally, there is a particularly high positivity rate for HLA-B27, the human leukocyte antigen B27, which can reach up to 90%, whereas it is typically around 4%-9% in the general population.

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Written by Yang Ya Meng
Rheumatology
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What to check for ankylosing spondylitis?

The examination for ankylosing spondylitis mainly includes blood tests. The main components of the blood tests are erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), ANA along with CCP antibodies, and AKA antibodies, and of course, the most crucial test related to the gene - HLA-B27. Imaging exams can include the following: First, an X-ray of the pelvis, or an MRI of the sacroiliac joints. If the disease has been present for a longer time, a CT of the sacroiliac joints can be chosen. If the patient has elevated ESR and CRP, a positive B27, and lesions in the sacroiliac joints, then the diagnosis of ankylosing spondylitis can be confirmed.