Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Ankylosing Spondylitis

What is Ankylosing Spondylitis?

• Ankylosing spondylitis (AS) is a form of arthritis in which the joints of the spine are affected by inflammation
  • The area where the spine meets the pelvis is most often impacted
• The mechanism of the disease is believed to be autoinflammatory or autoimmune in nature
• Up to 0.8% of people are impacted by ankylosing spondylitis
• There are no direct tests that diagnose early forms of the disease unambiguously
• Ankylosing spondylitis has been known since the 2nd century AD

How Do You Get it?

• The exact cause isn’t understood, with a combination of environmental and genetic factors playing a role
• 85% of people in the UK that have the disease carry the HLA-B27 (human leukocyte antigen)
  • This association suggests that CD8 T cells are somehow involved in the illness
• Tumor necrosis factors alpha (TNFα), anti-neutrophil cytoplastic antibodies (ANCA), and Interleukin 1 (Il-1) are also associated with ankylosing spondylitis

What Are the Symptoms?

• Signs and symptoms of the disease tend to appear in early adulthood, between 20 and 30 years of age
• Symptoms of ankylosing spondylitis include:
  • Initially, stiffness and dull pain affecting the lower back
  • Fatigue
  • Fever
  • Weight loss
  • Pain, which becomes more severe are rest and subsides with exercise
  • While stiffness and pain typically impacts the lower back, arthritis can expand to the shoulders and hips
  • Uveitis, resulting in blurred vision, eye pain, and redness
  • Cardiovascular involvement, which can include:
    • Electrical conduction system disturbances
    • Inflamed aorta
    • Aortic valve insufficiency
  • Lung involvement, which can include:
    • Progressive fibrosis impacting the upper lung

How Is It Treated?

• A variety of anti-inflammatory drugs, such as non-steroidal anti-inflammatory drugs (NSAIDs), are commonly used to reduce pain and inflammatory activity
• A number of other medications are used to arrest progression of ankylosing spondylitis, such as:
  • Disease-modifying antirheumatic drugs (DMARDs), which are often employed in cases that involve peripheral arthritis. Examples include sulfasalazine.
  • Tumor necrosis factors alpha (TNFα) blockers, which can have a substantial short-term benefit on symptoms, biomarkers, and other indicators of disease activity. Examples include etanercept and infliximab.
  • Il-17A inhibitors are also used in patients that don’t respond well to TNFα blockers. Examples include secukinumab and ixekizumab.
  • The Janus kinase inhibitor tofacitinib is also approved for ankylosing spondylitis
• Surgery is also used in severe cases of the disease. Joint replacement is the most common, but operations are also used to correct severe joint or spinal deformities
• Physical therapy exercises can be used as part of a regimen to manage joint pain and to improve function
• A diet low or entirely eliminating starch is also recommended.

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this condition from the Spondylitis Association of America.