Autoimmune Rare Diseases

Introduction

Rare autoimmune disorders are conditions in which the immune system targets the body's own healthy tissues by mistake, causing inflammation, organ injury, and systemic complications.
They are defined as rare when they occur in a small percentage of people.

Features of Rare Autoimmune Disorders

Though every autoimmune disorder has unique symptoms and affects different organs, they also share some common features:

1. Progressive and Chronic Nature – The symptoms tend to continue over a period of time and can even get worse gradually.

2. Inflammatory Response – The body's immune system incorrectly initiates inflammation in muscles, organs, skin, or blood vessels.

3. Flare-ups and Remissions – Symptoms get worse (flare-ups) and later decrease (remissions).

4. Multi-Organ Involvement – Most autoimmune diseases involve several body systems.

5. Uncertain Causes – Although genetics, environmental triggers, and infections are involved, the causes are not usually known.

6. Challenging Diagnosis – Symptoms may resemble other illnesses, and it is hard to diagnose.

7. Potentially Life-Threatening – Certain serious autoimmune diseases can cause organ failure or complications.

List of all Autoimmune Rare Diseases

Acquired hemophilia
Acromegaly
Agammaglobulinemia
Alopecia areata
Ankylosing spondylitis
Anti-NMDA receptor encephalitis
Antiphospholipid syndrome
Aplastic anemia
Arteriosclerosis
Autoimmune Addison’s disease
Autoimmune autonomic ganglionopathy
Autoimmune encephalitis
Autoimmune gastritis
Autoimmune hemolytic anemia
Autoimmune hepatitis
Autoimmune hyperlipidemia
Autoimmune hypophysitis
Autoimmune inner ear disease
Autoimmune lymphoproliferative syndrome
Autoimmune myelofibrosis
Autoimmune myocarditis
Autoimmune oophoritis
Autoimmune pancreatitis
Autoimmune polyglandular syndromes
Autoimmune progesterone dermatitis
Autoimmune retinopathy
Autoimmune sudden sensorineural hearing loss
Balo disease
Behçet’s disease
Birdshot chorioretinopathy
Bullous pemphigoid
Castleman disease
Celiac disease
Chagas disease
Chronic autoimmune urticaria
Chronic inflammatory demyelinating polyneuropathy
Churg-Strauss syndrome
Cogan’s syndrome
Cold agglutinin disease
CREST syndrome
Crohn’s disease
Cronkhite-Canada syndrome
Cryptogenic organizing pneumonia
Dermatitis herpetiformis
Dermatomyositis
Discoid lupus
Eosinophilic granulomatosis with polyangiitis
Evans syndrome
Fibromyalgia
Giant cell arteritis
Goodpasture syndrome
Granulomatosis with polyangiitis
Graves’ disease
Guillain-Barre syndrome
Hashimoto’s thyroiditis
Henoch-Schönlein purpura
Idiopathic inflammatory demyelinating diseases
IgA nephropathy
Immune thrombocytopenic purpura
Inclusion body myositis
Lambert-Eaton myasthenic syndrome
Lichen planus
Lichen sclerosus
Linear IgA disease
Morphea
Multiple sclerosis
Myasthenia gravis
Neuromyelitis optica
Paroxysmal nocturnal hemoglobinuria
Pemphigus vulgaris
Pernicious anemia
Polymyalgia rheumatica
Polymyositis
Primary biliary cholangitis
Primary sclerosing cholangitis
Psoriasis
Relapsing polychondritis
Rheumatic fever
Rheumatoid arthritis
Sarcoidosis
Scleroderma
Sjögren’s syndrome
Stiff person syndrome
Systemic lupus erythematosus
Takayasu’s arteritis
Transverse myelitis
Ulcerative colitis
Vasculitis
Vitiligo
Wegener’s granulomatosis

SYMPOTMS

Autoimmune disorders target various organs, and they cause an array of symptoms.
Symptoms worsen and then enter remission, so diagnosis is challenging.
A few very uncommon autoimmune diseases imitate more prevalent disorders, with treatment being postponed.

General Symptoms

Chronic fatigue

Unexplained fever

Weight loss or gain

Muscle and joint pain

Swollen lymph nodes

Neurological Symptoms

Tingling or pain in nerves (neuropathy)

Paralysis or muscle weakness

Tremors or seizures

Brain fog and memory loss

Skin & Mucosal Symptoms

Rashes, ulcers, or discoloration of skin

Increased sensitivity to light

Peeling or blistered skin

Joint & Muscle Symptoms
Stiffness or swelling (arthritis-like symptoms)
Muscle weakness or wasting
Difficulty moving
Gastrointestinal Symptoms
Chronic diarrhea or constipation
Abdominal pain and bloating
Malabsorption of nutrients
Respiratory & Cardiovascular Symptoms
Shortness of breath
Chest pain or irregular heartbeat
Inflammation of blood vessels (vasculitis)
Hormonal & Organ-Specific Symptoms
Thyroid dysfunction (hypothyroidism/hyperthyroidism)
Kidney or liver inflammation
Pancreatic issues (e.g., diabetes-related autoimmunity)

CAUSES

The cause of unusual autoimmune disorders is not certain, but researchers feel that it is an interplay of genes, environment, and hormones.

Genetics

There are genes passed down by parents, so some individuals have a greater risk of getting autoimmune diseases.
For instance, the C4A null allele is one common gene-related risk factor for lupus.

Environment

The body's reaction to certain drugs, chemicals, or toxins causes autoimmune disorders.
For instance, pesticide exposure has been implicated in the induction of rheumatoid arthritis among male farm laborers.
Exposure to methylmercury is implicated in the formation of autoimmune antibodies among reproductive age women.

Hormones

Some hormones among women may have a part in triggering the episodes of autoimmune disease.
Autoimmune diseases preferentially occur in adolescent girls and young women.

Other risk factors

Being obese or overweight increases the chances of getting rheumatoid arthritis or psoriatic arthritis.
Smoking has also been associated with several autoimmune conditions, such as lupus, rheumatoid arthritis, hyperthyroidism, and MS.
Some drugs may induce drug-induced lupus or statin-induced myopathy.

DIAGNOSIS

Physical exam

Your doctor will check you for symptoms of the disease, which vary depending on the autoimmune disease.

Blood tests

These include antinuclear antibody (ANA) tests, autoantibody tests, complete blood count (CBC), and others.

Certain antibodies such as rheumatoid factor and anti-CCP can be markers of autoimmune activity.

Imaging studies

MRI, CT scans, and ultrasounds can visualize the inflammation and organ involvement.

For instance, MRI can be utilized to diagnose optic neuritis, transverse myelitis, and neurosarcoidosis.

Biopsy

Biopsy can yield absolute confirmation of autoimmunity. For instance, lip biopsies are utilized in the diagnosis of Sjögren's syndrome.

Other tests

Comprehensive metabolic panel, acute phase reactants, immunologic studies, serologies, flow cytometry, cytokine analysis, and HLA typing

Urinalysis

Other considerations

Symptoms of autoimmune disease may be due to other prevalent diseases.

Diagnosis may be challenging since there's typically no single test for autoimmune disease.

You might require several lab tests and tests read together with clinical information.

TREATMENT

There is currently no cure for autoimmune diseases, but a range of treatments can assist in the relief of symptoms and the modulation of immune activity.

Medications

Steroids (Corticosteroids): These quickly reduce what is perceived as overactivity of the immune system, which may come with unwanted side effects.
Targeted Immunosuppressants: These block specific immune responses and have a lesser magnitude of side effects.
Anti-inflammatory Drugs: Includes anti-TNF medications for autoimmune arthritis and psoriasis or NSAIDs to manage pain and swelling.
Symptom Management: Painkillers, sleep medications, insulin, and medications for depression.
Plasma Exchange & IV Ig: Removal of harmful antibodies or restoration of immune balance.
Hormonal and Vitamin Supplementation: E.g., in insulin, thyroid hormone, or vitamin B12 deficiency.
Blood Transfusions: In blood-related autoimmune disorders.

Lifestyle Changes

Exercise & Physical Therapy: Beneficial in the case of autoimmune diseases affecting muscles, such as myositis or multiple sclerosis.
Quitting smoking: Significant for autoimmune conditions, affecting blood vessels.

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