Relapsing polychondritis | Genetic and Rare Diseases

Relapsing polychondritis | Genetic and Rare Diseases

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Relapsing polychondritis | Genetic and Rare Diseases

 

Relapsing polychondritis | Genetic and Rare Diseases  – Reconditioning polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a hard but flexible tissue that covers the ends of bones with a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but different areas of the body can be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (nerves) system, skin, joints, kidneys, and nervous system. .

Symptoms

Recapturing polychondritis (RP) is characterized by recurrent inflammation of cartilage (hard but flexible tissue that covers the ends of bones in the joint) and other tissues throughout the body. The characteristics of the condition and severity of symptoms vary greatly from person to person, but may include:

  • Ears: Ears are the most affected parts of the body. Symptoms include sudden onset of pain, swelling and tenderness of the cartilage of one or both ears.
  • Ointment: The second most common finding is joint pain with or without arthritis.
  • Eye: Affected people may experience episcleritis, uveitis, and / or scleritis. Scalaritis can cause blurred or dark color of the sclera (whitening of the eye) and in severe cases can cause vision loss.
  • Nose: Inflammation of the nasal cartilage can lead to fullness, crusting, rhinorrhea, epistaxis (bleeding from the nose), compromise of smell and / or saddle nasal deformity (where the nose has become weak and thus “sad” in the middle). feeling.
  • Airways: Inflammation can affect the larynx, trachea (windpipe), and bronchi (branches that close the trachea and carry air to the lungs).

Causes

The exact underlying cause of transferring polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It is thought that RP occurs when the body’s immune system accidentally attacks its cartilage and other tissues. In general, autoimmune conditions are complex symptoms associated with the effects of multiple genes in combination with lifestyle and environmental factors.

There is also evidence to suggest that some people may be born with genetic susceptibility to RP. Studies have found that people with RP are almost twice as likely to carry a certain genetic allele called HLA-DR4 without this condition. “HLA” stands for human leukocyte antigen, which is an important part of our immune system and plays a role in disease resistance and prediction (risk). However, HLA genes are not only responsible for specific diseases, but may simply contribute to disease risk along with other genetic or environmental factors. Thus, many people with HLA-DR4 will never develop RP.

Treatment

The primary goals of treatment for people suffering from polychondritis (RP) are to relieve current symptoms and preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone, reducing the severity, frequency, and duration of relapses. High doses are usually given during flares, while low doses can usually be prescribed during periods of remission. Other medications prescribed to control symptoms include dipsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine, and infliximab.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatment and potential cure. They can direct you to research, resources and services. Many organizations also have specialists who work as medical consultants or provide a list of doctors / clinics. Visit the group’s website or contact them to learn about the services they receive. Joining this list is not endorsed by GARD.

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