BSB2122 | Genetics
Ankylosing spondylitis
GROUP 2
BSB2122 | Genetics
NAME | STUDENT ID |
NURUL ANIS AMIRA BINTI MOHD TAZRI | SB21002 |
NUR SHAHIRA BINTI RAZALI | SB21009 |
NUR KHAIRUNNISA BINTI AHMAD SABRI | SB21021 |
NUR ANISA BINTI ZULKARNAIN | SB21054 |
NURFADZLINA BINTI FADZLIN | SB21059 |
AINA BINTI ADI SUFIAN CHANÂ | SB21086 |
RAUDATUL ASYIQIN BINTI SHAMSUL AZHAR | SB21113 |
BSB 2122
GENETICS
PREPARED FOR: DR. HAJAR FAUZAN BIN AHMAD |
GROUP MEMBERS
Ankylosing spondylitis is a form of arthritis that causes chronic (long-term) spine inflammation. It is a chronic inflammatory disease that primarily affects the spine and sacroiliac joints. The disease is classified as a type of spondylarthritis, which is a group of diseases characterized by inflammation of the joints and ligaments in the spine.
WHAT IS
Ankylosing Spondylitis?
- The condition typically develops in early adulthood, with symptoms appearing gradually and worsening over time. The initial signs often include recurrent episodes of lower back pain and stiffness, which may improve with activity and worsen with rest.
- As the disease progresses, the pain becomes more persistent, and the flexibility of the spine may decrease.
- In severe cases, fusion of the vertebrae can occur, resulting in a rigid and inflexible spine. Others have milder symptoms that come and go. Over time, new bone formations may fuse vertebrae sections together, making the spine rigid. This condition is called ankylosis.
Symptoms
- AS in the United States is approximately 0.2-0.5%
- From multiple countries, the age- and sex- adjusted incidence of AS is 0.4-14 per 100,000 person-years
Worldwide
- Prevalence of ankylosing spondylitis is approximately 7-490 per 100,000 individuals
Asia
- In China is 0.20–0.42%
- The prevalence of HLA-B27 in AS patients is 88.8–89.4%.
- HLA-B*2704 is the most common subtype in Chinese AS patients, followed by HLA-B*2705
Incidence and prevalence
Famous Cases
China's folded BOY
- In 2023,Jiang Yanchen , 19, suffers from ankylosing spondylitis a type of arthritis that causes inflammation in the joints and ligaments of the spine that causes his neck to bend backward, leaving only a hand's width between his head and spine and a body height of just one meter.
- In May 2023, he set off on what he hopes will be a life-changing journey from Shandong to Beijing to undergo a series of complicated medical procedures that will take three months to complete.
- The first procedure, which will help restore his neck to its normal position, has been completed successfully.
- The teenager faces at least four more operations, after which all those who have followed his progress hope he will be able to walk back to school in September.
China's folded man
- Li Hua, 48, was diagnosed with ankylosing spondylitis at the age of 18.
- It’s a rare condition that can cause bones to fuse, making the spine curve forward.
- His condition deteriorated over the years, and his posture got worse until his upper body eventually folded onto his lower limbs.
- He had lived with his face pressed tightly against his thighs, with just a 1.86-centimeter (0.7-inch) gap in between.
- Three parts of Li’s body were connected: chin to chest, breastbone to pubic bone, and face to thigh bone.
- After four risky operations and rehabilitation, China's "folded man" is finally able to stand upright for the first time in 28 years.
the genetics
The pathogenesis of AS is likely multifactorial and has not been fully elucidated to date.
Genetic factor is believed to play the major role in increasing the chances for an individual to develop AS. Recently, environmental factor are also suspected to play a part in AS.
HLA-b27
90% of AS patients is HLA-B27 positive.
Human Leukocyte Antigen class B gene 27 (HLA-B27) is a complex of genes encode cell-surface proteins responsible for regulation of the immune system. It is the biggest gene studied in association to AS. It is a normal gene and most people having the gene does not develops AS.
IL-17A & il-23
Mutations in the Interleukin-17A (IL-17A) and IL-23 contributes to the polymorphisms of of IL-23 receptor (ILR23) which is related to AS .
ERAP-1
Some variations of ERAP-1 (endoplasmic reticulum aminopeptidase 1) increases the risk of AS when paired with
HLA-B27.
environmental factors
Gut microbiome of AS patients have shown increase and decrease of some bacterial family. It could influence the development of AS.
Diagnosis
Ankylosing Spondylitis (AS) can be diagnosed through the combination of medical history, physical examination, imaging tests and laboratory tests performed by the helps of doctor or health professional.
MEDICAL HISTORY
Evaluation of medical history conducted to trace on any pass health or pain issues which might be related to the previous one.
PHYSICAL EXAMINATION
Examination on patient's movement or joint inspection involving spine, pelvis and including rib stiffness and inflammation by deep breathing.
IMAGING TESTS
X-rays and MRI used to provide the images of internal changes involving brain, spinal cord, bones, joints and tissues of the patient's.
LAB TESTS
Blood test performed to test the presence of HLA-B27, commonly present in significant people with Ankylosing Spondylitis.
SYMPTOMS & CRITERIA ASSESSMENT
Evaluating overall results of tests performed, pain duration, stiffness or related symptoms match the A. S. International Society (ASAS) criteria.
Medical History
Imaging Tests
Laboratory Tests
Physical Examination
Symptoms and Criteria Assessment
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Steps in Ankylosing Spondylitis Diagnostic
The spine and sacroiliac joints are the main areas of the body that are affected by ankylosing spondylitis (AS), a chronic inflammatory illness. While there is no known treatment for AS, there are ways to control symptoms, lessen inflammation, and enhance a person's quality of life.
MEDICATIONS
- In mild to severe cases of AS, certain drugs, such as ibuprofen or naproxen, can aid in pain relief and inflammation reduction
- Sulfasalazine and methotrexate are two examples of DMARDs that may be administered to reduce inflammation and decrease the development of AS.
- Tumor necrosis factor (TNF) inhibitors like etanercept, adalimumab, or certolizumab, as well as other biologic drugs, can be useful in controlling symptoms and lowering inflammation in more severe cases of AS.
PHYSICAL THERAPY
- Physical therapy and exercise regimens can help maintain excellent posture, increase flexibility, and strengthen the muscles that support the spine. Stretching, range-of-motion, and cardiovascular exercises are a few examples of them.
- Temporary pain relief and symptom management can be achieved with the use of heat and cold therapy, massage, and transcutaneous electrical nerve stimulation (TENS).
- Spinal mobilization is a technique that entails a professional therapist gently extending and manipulating the spine to increase mobility and lessen pain.
- Changes in posture and way of life can help with symptoms relief and stop AS from progressing further. These include utilising ergonomic furniture, avoiding back-stretching activities, and maintaining excellent posture.
Possible Treatment
SURGERY
- Surgery may be an option in severe cases of AS where joint degeneration or spinal deformity are considerable and negatively affect quality of life. Joint replacements, spinal fusions, and the repair of spinal abnormalities are a few surgical possibilities.
It's crucial to keep in mind that the precise AS treatment plan may change based on the patient, the severity of the ailment, and how well they respond to various medications. Therefore, for an accurate diagnosis and tailored treatment suggestions, it is essential to speak with a healthcare professional like a rheumatologist or orthopedic specialist.
Avoid alcohol
Take calcium and vitamin D
Get exercise daily
Wear good shoes
Practice good postures
Avoid smoking
PREVENTION
