What Is Relapsing Polychondritis?
Relapsing Polychondritis is an immunity-mediated disorder of the cartilage that involves deterioration of the cartilage connective tissue present throughout the body. Although cartilage in all parts of the body may get affected, the most common sites found are the auricular (ears), nasal (nose), larynx (voice box), and trachea (windpipe). It is said to be a rare, systemic disease actively affecting 1 in 250,000 people. The average age of onset of this disease is between 40 to 60 years old. Relapsing polychondritis is characterized by episodic inflammation of the cartilaginous tissue - elastic cartilage of the ear and nose and hyaline cartilage of peripheral joints - that recurs from time to time. The marked redness of the ears with complaints of pain and swelling is a diagnostic feature of this disease. Other names for this disease include Relapsing Perichondritis Von-Meyenburg Disease.
What Causes Relapsing Polychondritis?
The exact cause of Relapsing Polychondritis is not yet known. Being an immunity-mediated disease, it is seen that one’s autoimmunity plays a huge role in the occurrence of this rare disease. Auto-immunity is when one’s own immune system attacks the healthy cells by the release of cytokines and chemokines. These are nothing but inflammatory proteins and chemicals mainly consisting of interferons and interleukins ( IL-1 and IL-12 ). People with Relapsing Polychondritis are found to have cartilage-specific antibodies circulating in the blood. They are particularly found to act against collagen II, IX, and XI. Collagen II is the most common type that is found, making up about 95 percent of the cartilage. Thus, it is most susceptible to autoimmunity antibodies.
What Are the Symptoms of Relapsing Polychondritis (RP)?
Relapsing polychondritis is an episodic disease that is also recurring in nature. These episodes may last for several days to weeks, with the symptoms subsiding after initiating treatment. The first symptom of the disease is observed in the ears. Inflamed, red ears complemented with pain are the first signs of Relapsing Polychondritis. Other symptoms include:
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Deteriorating cartilage at the bridge of the nose causes a saddle-like deformity.
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Joint Aches and pains as found in arthritis.
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Blocked nasal pathways due to severe congestion.
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Conjunctivitis of the eyes with prominent redness; possible compromised vision.
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Problems associated with breathing in cases involving trachea (windpipe).
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Compromised speech due to affected larynx (voice box).
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Loss of hearing has also been reported in 46 percent of RP Patients.
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Kidney Disease, however, is very rare.
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Cardiac involvement with complications like heart murmur, and valvular problems. The article focuses on the cardiovascular manifestations of relapsing polychondritis in detail.
How Is Relapsing Polychondritis Diagnosed?
The diagnosis of Relapsing Polychondritis poses a challenge to clinicians to date. There are no specific diagnostic tests that can prove the presence of this disease in an individual. This is due to the general pleomorphic (no specific type of cell/tissue change) nature of the disease and idiopathic (no known cause) triggers of its occurrence. The symptoms of the disease are also almost always inconsistent, with varying amounts of severity found in one individual. The clinical manifestations involving the ears and nose, along with polyarthritis, are classic markers for diagnosis of the disease. But in many cases, this is not how the disease shows up in the initial stages and hence poses a difficulty in making an informed diagnosis. The mean diagnostic delay time is about five years for children and about three years for adults.
What Are the Cardiac Manifestations Of Relapsing Polychondritis?
Relapsing polychondritis majorly affects cartilaginous tissue throughout the body. The two commonest clinical features of the disease include auricular and nasal cartilage involvement and polyarthritis. The involvement of other organ systems of the body is also quite commonly seen in a good percentage of RP patients. Neurological, renal, ocular, and dermatological are all the categories of systems that may or may not be affected. The cardiovascular system also shows many changes in patients suffering from relapsing polychondritis. About 25 percent of RP patients show cardiac involvement. Further, cardiac issues contribute as the second leading cause of death in these patients. Some of these are discussed below.
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Valvular Heart Disease- This mainly refers to the aortic or mitral regurgitation wherein the blood flows back into the chambers due to improper closure of the heart valve. In a healthy heart, the valves function to direct the flow of blood and prevent backflow of the blood into the heart. In a diseased heart, the valvular malfunction leads to insufficient blood supply to all parts of the body and may result in heart failure or sudden cardiac arrest.
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Aortic Aneurysm- Aneurysms refer to the bulging of the artery or vessel wall, also referred to as ballooning of the wall. This occurs mainly in Vasculitis disease (inflammation of the blood vessels) or in people suffering from hypertension. The average age group affected is 65 years or older. Aortic aneurysms occur in the aortic vessels of the heart, which are responsible for supplying blood to the thoracic and chest areas. These aneurysms are dangerous and may often rupture due to the high pressure of blood present in the aorta. Diagnosing aortic aneurysms in patients with asymptomatic Relapsing Polychondritis is a challenge, and thus, one needs to consider all the aspects of the disease during its treatment planning.
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Myocarditis- This condition involves the inflammation of the middle layer of the heart, referred to as the muscle of the heart. Having myocarditis can significantly impair the heart’s ability to pump blood effectively. Chest pains, shortness of breath, and cardiac arrhythmias are some of the symptoms observed in myocarditis.
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Pericarditis- This condition involves inflammation of the pericardium. The pericardium is the outermost thin sac-like wall that encloses the heart. The symptoms of this disease are quite mild and often resolve on their own. Severe symptoms may call for surgical intervention.
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AtrioVentricular Block- This condition involves partial or complete loss of signal transmission from the atria to the ventricles of the heart. The conduction system of the heart gets disrupted. A pacemaker is generally advised for patients with AV block.
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Systemic Vasculitis- This disease is characterized by inflamed blood vessels leading to thickening of the vessel walls. As a result, the pathway for blood flow becomes restricted, causing impaired blood flow throughout the body.
Conclusion
Due to insufficient data on determining the cause of the disease, there is no certain cure yet discovered for RP. Symptomatic management of the disease by administering appropriate drugs is carried out in patients suffering from early stages of the disease. Surgical intervention may be necessary for treating cases that are advanced in severity.
