Ankylosing Spondylitis HLA-B27

By SWA

HLA-B27 is a genetic marker located on the surface of white blood cells, part of the complex human leukocyte antigen (HLA) system that plays a crucial role in the immune system's ability to distinguish between the body's own proteins and those made by foreign invaders such as viruses and bacteria. Having the HLA-B27 gene itself doesn't cause any symptoms or disease. However, it is associated with a higher risk of developing certain autoimmune diseases, particularly those affecting the joints and eyes. Here are some conditions associated with HLA-B27 and their symptoms:

  1. Ankylosing Spondylitis (AS):

    • Chronic inflammation of the spine and the sacroiliac joints (where the spine meets the pelvis), leading to pain and stiffness in the lower back, buttocks, and hips.
    • Over time, the inflammation can lead to new bone formation on the spine, causing sections of the spine to fuse in a fixed, immobile position.
    • Fatigue is also a common symptom.

  2. Reactive Arthritis (Reiter's Syndrome):

    • This condition can occur after certain bacterial infections. It's characterized by inflammation in joints, the urinary tract, and the eyes.
    • Symptoms include joint pain and swelling, urinary symptoms (such as increased frequency or discomfort), and eye inflammation (conjunctivitis or uveitis).

  3. Psoriatic Arthritis:

    • This form of arthritis affects some people with psoriasis, a condition that features red patches of skin topped with silvery scales.
    • Symptoms include joint pain, stiffness, and swelling, which can affect any part of the body, including the fingertips and spine. Nail changes and fatigue are also common.

  4. Uveitis:

    • Inflammation of the eye's middle layer (uvea), causing redness, pain, blurred vision, and light sensitivity. HLA-B27 is strongly associated with a particular type of uveitis that tends to affect the eye's anterior part.

  5. Enteropathic Arthritis:

    • This type of arthritis occurs in some people with inflammatory bowel diseases (IBD), such as Crohn's disease and ulcerative colitis.
    • Symptoms include pain and swelling in the joints, diarrhea, abdominal pain, and blood in the stool.

It's important to note that not everyone with the HLA-B27 gene will develop these conditions. Similarly, these conditions can occur in individuals without HLA-B27. If you're experiencing symptoms like these, it's important to consult a healthcare provider for an accurate diagnosis and appropriate management.

 

Comments

Post a Comment

Popular posts from this blog

Toxic Skin Condition Post-mRNA COVID-19 Vaccination

By SWA
Image
Identifying Severe Skin Conditions Post-Vaccination Following administration of the BioNTech mRNA vaccine, a small subset of individuals may develop severe and complex reactions. These reactions are often misdiagnosed or misunderstood due to their rarity and diverse presentation. This essay examines a case characterized by severe skin conditions, systemic symptoms, and complications such as hypercalcemia and crystal formation. It highlights the need for accurate diagnosis, holistic management, and increased awareness of these rare but significant vaccine-related adverse events. Initial Symptoms and Misdiagnoses Severe symptoms began shortly after the first dose of the BioNTech vaccine, initially presenting as petechiae, diagnosed by a rheumatologist. However, following the second dose, symptoms rapidly escalated, resulting in intense burning pain and thinning of the skin. The skin on the legs and thighs became paper-thin and could tear with the slightest touch, with the affected area e...
Read more

Dysferlin Protein: Key Roles, Genetic Locations

By SWA
Image
The purpose of this article is to share and discuss the details of a new discovery, which is highlighted within: CRISPR-Cas9: A Breakthrough Tool to Repair the DYSF Gene The dysferlin protein plays an essential role in maintaining the integrity of muscle cell membranes, particularly in tissues that endure significant mechanical stress, such as skeletal and cardiac muscles . Encoded by the DYSF gene , dysferlin is indispensable for repairing damaged cell membranes after injury caused by muscle contraction or external forces. This article explores the main locations where dysferlin is produced, its role in muscle repair, and supportive nutritional and therapeutic strategies for individuals with dysferlin deficiency, such as those affected by dysferlinopathies (e.g., Limb-Girdle Muscular Dystrophy Type 2B or Miyoshi Myopathy). Currently, there is no definitive answer as to why the severity of dysferlin protein expression or depletion varies. Do pathogens play a role in the methylation o...
Read more

Is ME CFS connected to Spinal Muscular Atrophy (SMA) or Post Polio?

By SWA
Image
Today, I understand why Spinal Muscular Atrophy (SMA) received little attention, particularly in the mid-50s. This complex and debilitating genetic illness was poorly understood, and patients' symptoms were often minimized or even dismissed. For more information, please visit the Spinal Muscular Atrophy (SMA) page on MalaCards . Even now, many neurologists lack detailed knowledge of SMA, and comprehensive examinations mentioned in research are rarely pursued. In 2008, while investigating permanent adrenal insufficiency, an MRI ordered by my endocrinologist unexpectedly revealed Chiari Malformation II. However, surgery in 2009 brought no improvement. In 2010, a DNA test showed a genetic marker in the ACTN3 gene: https://www.malacards.org/search/results?q=ACTN3%20gene%20and%20Spinal%20Muscular%20Atrophy%20(SMA) A 2015 MRI revealed ankylosing spondylitis, multiple Tarlov cysts, stenosis at L4 and L5, spinal canal narrowing, and widespread degenerative changes. Surgery on L4 and L5 ...
Read more