Causes symptoms and effective treatment of relapsing polychondritis

Relapsing Polychondritis (RP) is a rare autoimmune disease that affects the cartilage throughout the body—especially in the ears, nose, and trachea. It may also involve the joints, eyes, and even the heart. The condition is characterized by recurring (relapsing) episodes of inflammation, which can lead to pain, deformity, and serious complications if not diagnosed and treated early.In this comprehensive guide from Dalili Medical, we explore the causes of Relapsing Polychondritis, its most common symptoms, stages of progression, accurate diagnostic methods, and the latest treatment options. You'll also find essential prevention tips and lifestyle advice to help you manage the condition and maintain a better quality of life.Keep reading to discover everything you need to know about this rare but serious disease.

1. What causes Relapsing Polychondritis?
The exact cause is unknown, but it is believed to be an autoimmune disorder in which the immune system mistakenly attacks the body’s own cartilage. Genetic predisposition and other coexisting autoimmune diseases may also play a role.

2. Does Relapsing Polychondritis only affect the ears and nose?
No. While the outer ear and nasal cartilage are commonly affected, RP can also involve other areas, including:

The larynx and trachea
Joints
Eyes
Heart and blood vessels
It may cause complications in multiple organ systems.

3. Can Relapsing Polychondritis be cured?
There is no definitive cure at present. However, with corticosteroids and immunosuppressive medications, inflammation can be controlled, flare-ups reduced, and quality of life significantly improved.

4. How is Relapsing Polychondritis diagnosed?
Diagnosis is based on:

Recurrent clinical symptoms
Patient history
Exclusion of similar conditions
Sometimes a cartilage biopsy
There is no single blood test that can confirm RP.

5. Can Relapsing Polychondritis lead to serious complications?
Yes. If left untreated, RP can result in:

Permanent ear or nasal deformities
Breathing difficulties due to airway involvement
Hearing loss
Serious cardiac or renal complications in some cases

6. Which doctor treats Relapsing Polychondritis?
A rheumatologist is the most appropriate specialist for RP. However, multidisciplinary care may be needed based on symptoms, including:

ENT (Ear, Nose, Throat) specialists
Pulmonologists
Cardiologists
Ophthalmologists

7. Can diet or herbal remedies help in treating RP?
Diet and herbs cannot replace medical treatment, but they may support immune function and reduce inflammation. An anti-inflammatory diet is recommended, including:

Fresh vegetables and fruits
Healthy fats like olive oil and omega-3s
Reduced intake of sugars and saturated fats
Always consult a doctor before using herbs or supplements.

8. What age group is most affected by RP?
RP can occur at any age, but it most commonly appears in people between the ages of 30 and 50. It affects both men and women equally.

10. Does RP affect pregnancy?
Yes, the disease itself or immunosuppressive medications may affect pregnancy. That’s why it's essential to:

Plan pregnancy in advance
Consult both a rheumatologist and an obstetrician
Evaluate the condition and adjust medications before conception

11. Does RP affect the nervous system?
Rarely. However, in some cases, neurological symptoms may appear due to:

Central nervous system vasculitis
Peripheral neuropathy
These are usually related to systemic inflammation.

12. Can RP cause breathing difficulties?
Yes. If the disease involves the cartilage of the larynx or trachea, it may lead to:

Airway narrowing
Episodes of breathlessness or choking
This is one of the most dangerous complications and requires urgent medical attention.

13. Can RP affect the eyes?
Yes. Ocular involvement is a recognized complication of RP and may include:

Conjunctivitis
Scleritis
Uveitis
Immediate treatment is essential to prevent vision damage.

14. Is RP associated with other autoimmune diseases?
Yes. RP often coexists with other autoimmune disorders such as:

Systemic lupus erythematosus (SLE)
Vasculitis
Sjögren’s syndrome
Rheumatoid arthritis
A comprehensive evaluation by a rheumatologist is important.

15. Is RP a genetic disease?
RP is not classified as a directly inherited disorder. However, a genetic predisposition may exist, especially in individuals with a family history of autoimmune diseases.

16. Does RP affect quality of life?
Yes. If left undiagnosed or untreated, RP may result in:

Chronic pain
Visible deformities in the ear or nose
Respiratory, auditory, or mobility problems
With proper medical treatment and regular follow-up, these effects can be minimized, and quality of life significantly improved.

17. Are there specific blood tests to diagnose RP?
There is no single definitive lab test for RP. However, tests may reveal:

Elevated ESR and CRP levels
Nonspecific autoantibodies such as ANA
Diagnosis is mostly clinical, based on symptom history and exclusion of similar conditions.

18. Does RP require long-term follow-up?
Yes. RP is a chronic condition that needs:

Ongoing monitoring by a rheumatologist
Adjustments in medication dosages
Regular checks on vital organ functions
This helps prevent flares and long-term complications.

19. Can RP cause nasal deformity?
In some cases, chronic inflammation of the nasal cartilage may lead to:

Progressive collapse of the nasal bridge
A deformity known as “saddle nose”
This is a late complication that can often be prevented with early treatment.

20. Can RP occur in children?
RP is rare in children, but pediatric cases have been reported. These cases tend to:

Be harder to diagnose
Require specialized care by pediatric immunology or rheumatology experts
Symptoms may be more subtle or atypical in children.

✅ What Causes Relapsing Polychondritis (RP)?

Although the exact cause of RP is not fully understood, researchers have identified several possible contributing factors:

1. Autoimmune Dysfunction
The primary factor in RP is autoimmunity, where the immune system mistakenly attacks cartilage tissue—such as that in the ears, nose, larynx, or joints—causing recurring inflammation and progressive damage.

2. Genetic Susceptibility
Studies suggest a link between RP and certain immune-related genes like HLA-DR4, which may increase susceptibility in some individuals.

3. Coexisting Autoimmune Diseases
RP is often associated with other autoimmune conditions, including:

Systemic lupus erythematosus (SLE)
Vasculitis
Behçet’s disease
Rheumatoid arthritis
Sjögren’s syndrome

4. Infections or Environmental Triggers
Certain viral or bacterial infections may trigger RP in genetically predisposed individuals, although this association has not been conclusively proven.

5. Medications or Vaccines (Rarely)
In very rare cases, RP has been linked to certain medications or vaccines. However, such links are still under investigation and not yet firmly established.

✅ Clinical Types of Relapsing Polychondritis (Based on Affected Organs)

RP does not have fixed types, but its clinical presentation varies depending on the organs involved. Common clinical patterns include:

Auricular RP: Redness, swelling, and pain in the outer ear
Nasal RP: Nasal tenderness and deformity (e.g., saddle nose)
Respiratory RP: Airway narrowing, cough, or hoarseness
Articular RP: Joint pain, stiffness, or arthritis
Ocular RP: Eye inflammation such as conjunctivitis or uveitis
Cardiovascular RP: Aortic or valvular involvement (rare but serious)

Clinical Patterns of Relapsing Polychondritis

Relapsing Polychondritis (RP) is not classified into fixed types, but it presents in various clinical patterns depending on the affected organs. Here are the main clinical forms of the disease:

Classic Cartilaginous Pattern
Affects the external ear, nose, and larynx
➤ This is the most common presentation at diagnosis.
Respiratory Pattern
Involves the larynx and trachea
➤ May lead to severe airway obstruction and is considered one of the most dangerous forms.
Articular Pattern
Causes joint pain and swelling
➤ Often mimics rheumatoid arthritis symptoms.
Ocular Pattern
Affects the eyes, potentially leading to conjunctivitis or uveitis
➤ Requires prompt treatment to avoid visual complications.
Cardiovascular Pattern
Involves the heart or blood vessels
➤ Rare but potentially life-threatening if not detected early.
Systemic (Complex) Pattern
Occurs alongside other autoimmune diseases
➤ One of the most complex forms, requiring multidisciplinary management.

Symptoms of Relapsing Polychondritis

RP symptoms vary widely depending on the organs involved and typically occur in flare-ups (relapses). Below is a detailed overview:

Affected Organ	Symptoms	Notes
External Ear	Pain, redness, swelling of the auricle	Does not affect the earlobe — a distinguishing feature
Nose	Pain, redness, nasal deformity ("saddle nose")	Caused by cartilage breakdown
Larynx & Trachea	Hoarseness, breathing difficulty, stridor (noisy breathing)	Can be life-threatening due to airway narrowing
Eyes	Redness, pain, scleritis, or uveitis	Risk of vision loss if untreated
Joints	Pain, swelling, stiffness, migratory arthritis	Resembles RA but without bone erosion
Heart & Blood Vessels	Valve inflammation, aortic root dilation, vasculitis	Rare but serious — needs close monitoring
Skin	Rash, purplish spots, skin nodules	Seen in a subset of patients
Nervous System	Headache, neuritis, numbness, or muscle weakness	Rare neurological involvement
Gastrointestinal Tract	Nausea, abdominal pain, diarrhea, digestive disturbances	Usually appears with coexisting autoimmune disorders

⚠️ General Symptoms During Flare-Ups:

Fever
Chronic fatigue
Weight loss
Loss of appetite

Important Note:
RP usually manifests in relapsing episodes that affect different organs at different times. This variability often delays diagnosis, as it can mimic many other autoimmune or inflammatory diseases.

Stages of Relapsing Polychondritis Progression

Although there is no formal staging system for RP, the disease can be understood clinically in three approximate phases:

1️⃣ Early Stage: Mild Localized Flares

Limited symptoms such as ear or nasal inflammation
Often undiagnosed at this point
Responds well to anti-inflammatory medications

Features:
✔️ Short-lived flares
✔️ Localized symptoms only
✔️ No clear systemic complications

2️⃣ Intermediate Stage: Multi-Organ Involvement

Affects multiple organs (e.g., ears, joints, larynx)
Flares become more frequent and exhausting
Systemic symptoms begin to appear (fever, fatigue, etc.)

Features:
✔️ Multi-organ damage
✔️ Recurrent flare-ups
✔️ Requires stronger immunosuppressive therapy

3️⃣ Advanced Stage: Chronic or Severe Phase

Permanent cartilage damage (e.g., ear/nose deformities)
Chronic respiratory issues from airway narrowing
Risk of serious cardiac or pulmonary complications

Features:
❗ Irreversible structural damage
❗ Persistent symptoms, even between flare-ups
❗ Needs long-term immunomodulatory treatment

Diagnosis of Relapsing Polychondritis (RP)

Diagnosing Relapsing Polychondritis is often challenging due to its diverse symptoms and the absence of a specific laboratory or imaging test. Physicians rely on a combination of clinical evaluation, supportive investigations, and the exclusion of other autoimmune disorders.

✅ 1. Clinical Diagnostic Criteria (McAdam’s Criteria)

McAdam’s criteria are widely used for diagnosing RP. The presence of three or more of the following clinical features is required:

Clinical Feature	Description
Auricular chondritis	Pain, redness, and swelling of the external ear sparing the earlobe (a hallmark of RP).
Nasal chondritis	Pain and swelling of the nose, possibly leading to saddle-nose deformity.
Laryngeal or tracheal involvement	Hoarseness, breathing difficulty, or inspiratory stridor.
Non-erosive inflammatory arthritis	Migratory joint pain and swelling without permanent joint damage.
Ocular inflammation	Includes uveitis or scleritis, which may threaten vision if untreated.
Hearing loss or balance issues	Due to involvement of the middle or inner ear.

2. Laboratory Tests

There are no specific lab tests that confirm RP, but the following may support the diagnosis or help rule out other diseases:

Test	Expected Findings	Interpretation
ESR & CRP	Elevated in most patients	Indicators of active inflammation
ANA & ENA	Sometimes positive	Useful for excluding lupus, Sjögren’s, etc.
RF & Anti-CCP	Usually negative	Helps rule out rheumatoid arthritis
CBC	Anemia, leukocytosis	Non-specific markers of chronic inflammation

3. Immunological & Genetic Testing

HLA Typing: May reveal genetic predisposition (e.g., HLA-DR4), but not used for diagnosis.
Autoantibodies: Often non-specific but crucial to rule out overlapping autoimmune diseases.

4. Imaging Studies

Modality	Clinical Utility
CT / MRI	Detects cartilage inflammation, thickening, or airway narrowing (e.g., tracheal or auricular involvement).
X-ray of the trachea	Shows airway narrowing or calcification.
Laryngoscopy / Bronchoscopy	Visualizes airway obstruction in cases with hoarseness or respiratory symptoms.

5. Cartilage Biopsy (When Needed)

Biopsy is reserved for unclear cases. A sample is taken from the affected cartilage (e.g., ear or nose). Histological features often include:

Degeneration of hyaline cartilage
Infiltration of inflammatory cells
Fibrosis and structural damage

6. Differential Diagnosis (Exclusion of Similar Conditions)

RP must be differentiated from other autoimmune or inflammatory diseases:

Systemic Lupus Erythematosus (SLE)
Behçet’s Disease
Sarcoidosis
Granulomatosis with Polyangiitis (GPA)
Rheumatoid Arthritis (RA)

✅ Key Takeaway:

Diagnosis is clinical, supported by investigations and exclusion of mimicking diseases. In the hands of an experienced rheumatologist, accurate diagnosis can be achieved even in early stages.

Treatment of Relapsing Polychondritis (RP)

The goals of treatment are to:

Control inflammation and acute flare-ups.
Prevent serious complications (e.g., airway obstruction or cardiac damage).
Preserve organ function and improve long-term quality of life.

Treatment plans are tailored based on disease severity, relapse frequency, and the organs involved. Ideally, treatment should be supervised by a rheumatologist.

✅ 1. Corticosteroids (First-Line Therapy)

Corticosteroids are the cornerstone of RP treatment, especially during acute flares.

Medication	Therapeutic Use
Prednisone	Given orally at high doses (0.5–1 mg/kg/day), then gradually tapered.
IV Methylprednisolone (Pulse Steroid)	Used in severe cases such as airway involvement or acute life-threatening symptoms.

✅ 2. Immunosuppressive Agents (Long-Term Control)

These help reduce steroid dependency and prevent frequent relapses:

Drug	Clinical Notes
Methotrexate	Weekly dosing; most commonly used and effective in moderate to severe RP.
Azathioprine	Alternative for those who cannot tolerate methotrexate; useful in overlap autoimmune syndromes.
Mycophenolate Mofetil (MMF)	Effective in severe or refractory cases.
Cyclophosphamide	Reserved for life-threatening conditions such as cardiac or airway involvement.

3. Biologic Therapies (For Refractory Cases)

Biologic agents are considered when conventional immunosuppressants fail or when there are additional autoimmune complications.

Biologic Drug	Mechanism of Action & Notes
Rituximab	Targets B cells; effective in patients with associated autoantibodies.
Adalimumab / Etanercept (Anti-TNF agents)	Show some benefit in selected cases, though clinical data is limited.
Tocilizumab	IL-6 receptor blocker; under investigation for treatment-resistant RP.

4. Supportive and Rehabilitative Therapy

Supportive care plays a vital role in improving daily function and managing symptoms.

Therapeutic Area	Recommendations
Symptom control	Use of analgesics, warm compresses, and antibiotics for secondary infections.
Respiratory therapy	Crucial for airway involvement to maintain open airways.
Physical therapy	Aids in joint mobility, preventing stiffness and improving overall function.
Psychological support	Recommended to help patients cope with the chronic nature of the illness.

5. Surgical Interventions (When Necessary)

Certain complications may require surgical procedures:

Tracheal stenting or surgery for airway obstruction in severe cases.
Reconstructive nasal surgery for saddle-nose deformity after disease stabilization.
Joint replacement surgery in patients with irreversible joint damage unresponsive to medical therapy.

Important Tips During Treatment

To optimize treatment outcomes and minimize side effects, patients should follow these precautions:

✅ Regular monitoring of liver and kidney function.
✅ Frequent blood tests: CBC, ESR, CRP.
✅ Prevent infections by maintaining good hygiene and getting vaccinated (based on physician advice).
✅ Never stop corticosteroids or immunosuppressants abruptly.
✅ Follow an anti-inflammatory diet rich in calcium and vitamin D to counteract steroid-induced bone loss.

Prevention of Relapsing Polychondritis (RP)

Although the exact cause of RP is unknown and there's no definitive way to prevent its initial onset, diagnosed patients can significantly reduce the risk of flare-ups and complications by adopting proactive lifestyle and medical strategies.

✅ 1. Adherence to Treatment & Regular Follow-Up

Do not discontinue medication—even during symptom-free periods—without consulting your doctor.
Ongoing follow-up with a rheumatologist is essential for adjusting dosages and monitoring disease progression.
Regular assessment of organ function (liver, kidney, lungs, heart) based on symptoms.

✅ 2. Reducing Infection Risk

Since immunosuppressive therapy increases susceptibility to infections, the following precautions are crucial:

Maintain personal hygiene and wash hands regularly.
Avoid crowded places and individuals with infections.
Stay up to date with seasonal vaccines (like flu and pneumonia), as recommended by your physician.
Keep corticosteroid and immunosuppressant doses at the lowest effective levels.

✅ 3. Avoid Immune Triggers

Certain factors may provoke disease relapses:

Quit smoking entirely—it aggravates inflammation and respiratory complications.
Minimize stress and fatigue through relaxation techniques or cognitive-behavioral therapy.
Protect yourself from prolonged sun exposure, especially if RP is associated with lupus or similar autoimmune diseases.

✅ 4. Adopt a Healthy Lifestyle

Eat an anti-inflammatory diet: rich in vegetables, fruits, whole grains, and healthy fats (like omega-3).
Engage in light regular exercise to promote circulation and reduce joint stiffness.
Maintain a healthy weight to ease joint strain and combat fatigue.

✅ 5. Early Detection of Flare-Ups

Early intervention significantly reduces the risk of complications:

Monitor early signs like ear pain or redness, hoarseness, breathing difficulty, or joint pain.
Keep a journal of new or unusual symptoms and consult your doctor promptly to adjust treatment as needed.