Multisystem Disorders

Overview

Mast cell activation syndrome, antiphospholipid syndrome, and other autoimmune diseases, as well as the Ehlers-Danlos syndromes, are all multisystem disorders that may or may not coexist.

There is a major group of serious diseases that have varying symptoms and can affect so many organs that they cannot be linked to a single primary organ system. Systemic lupus erythematosus, Dermatopolymyositis, Behçet disease, Multiple Sclerosis, Parkinson's disease, Polyarteritis nodosa, Sarcoidosis, Wegener granulomatosis, Mitochondrial diseases, heredofamilial and developmental problems are among examples.

Many clinicians' lack of knowledge of these disorders, as well as their complexity and destructive nature, has caused challenges for patients as well as providers and staff trying to care for this patient group.

These problems do not fit easily into the standard medical specialties, such as cardiology, pulmonology, or hematology. As a result, patients are frequently sent from specialist to specialist, with everyone focusing on their specialized area of expertise but no one taking "ownership" of the patient or looking at the complete patient. To make matters worse, most insurance companies and disability carriers are unaware of these conditions, their potential for impairment, or the time required to manage them.

 

Types of Multisystem Disease

Cystic Fibrosis (CF)

What is Cystic fibrosis (CF)?

Cystic fibrosis (CF) is a genetic disease that causes significant damage to the lungs, digestive system, and other body organs.

Cystic fibrosis damages the cells responsible for the production of mucus, sweat, and digestive fluids. Normally, these produced fluids are thin and slippery. In persons with cystic fibrosis, however, a defective gene causes the secretions to become sticky and thick. Secretions, rather than functioning as lubricants, block tubes, ducts, and passages, particularly in the lungs and pancreas.

Despite the fact that cystic fibrosis is a progressive disease that needs daily care, patients with CF are frequently able to attend school and work. They frequently enjoy a higher quality of life than previous generations of CF patients. Because to advancements in screening and therapy, patients with CF can now live into their mid- to late-thirties or forties, with some even living into their fifties.

 

Causes of Cystic Fibrosis

A defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — alters a protein that regulates the transport of salt in and out of cells in cystic fibrosis. As a result, thick, sticky mucus forms in the respiratory, digestive, and reproductive systems, and sweat salt levels rise.

The gene could have a variety of abnormalities. The severity of the condition is linked to the type of gene mutation.

To be affected by the condition, children must inherit one copy of the gene from each parent. Children who inherit only one copy will not develop cystic fibrosis. They will, however, be carriers and may pass the gene on to their offspring.

 

Signs and symptoms

Salt levels in the sweat of people with cystic fibrosis are greater than normal. When parents kiss their children, they frequently taste salt. The majority of the other CF signs and symptoms impact the respiratory and digestive systems.

Respiratory signs and symptoms:

Cystic fibrosis mucus is thick and sticky, and it clogs the tubes that transport air into and out of your lungs. This can result in symptoms such as:

• A chronic cough that produces thick mucus (sputum).
• Wheezing.
• Intolerance to exercise.
• Recurrent lung infections.
• Inflammation of the nasal passages or a stuffy nose.
• Recurrent sinusitis.

 

Digestive signs and symptoms:

The thick mucus can also obstruct the tubes that transport digesting enzymes from the pancreas to the small intestine. Without these digestive enzymes, your intestines are unable to absorb all of the nutrients in the food you consume. The end outcome is frequently:

• Bad smell and greasy stools.
• Inadequate weight gain and growth.
• Intestinal obstruction, especially in infants (meconium ileus.)
• Constipation that is chronic or severe, with regular straining to pass stool, finally causing part of the rectum to protrude outside the anus (rectal prolapse)

 

How CF is diagnosed?

Doctors often perform a physical exam, assess your symptoms, and conduct various tests to diagnose cystic fibrosis.

Screening and diagnosis of newborns:

Every state in the United States currently screens infants for cystic fibrosis. Early detection implies that therapy may begin right away.

In one screening test, a blood sample is examined for higher-than-normal amounts of immunoreactive trypsinogen (IRT), a substance secreted by the pancreas. Because of early birth or a difficult delivery, a newborn's IRT levels may be elevated. As a result, more testing may be required to confirm a cystic fibrosis diagnosis.

Once a newborn is at least 2 weeks old, physicians may do a sweat test to see if he or she has cystic fibrosis. A sweat-producing chemical is administered to a tiny patch of skin. The sweating is then collected to check if it is saltier than normal. Testing in a Cystic Fibrosis Foundation-accredited care center helps to assure reliable results.

Doctors may also recommend genetic testing for particular flaws in the gene responsible for cystic fibrosis. In addition to evaluating IRT levels, genetic studies may be utilized to confirm the diagnosis.

 

Testing of older children and adults:

For older children and adults who were not tested at birth, cystic fibrosis testing may be recommended. If you experience repeated bouts of an inflamed pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility, your doctor may recommend genetic and sweat testing for CF.

 

Cystic fibrosis treatment

Cystic fibrosis has no cure, although therapy can alleviate symptoms, prevent complications, and enhance the quality of life. Close surveillance and early, aggressive management is advised to halt the course of CF, perhaps leading to a longer life.

Managing cystic fibrosis is complicated, so seek treatment at a hospital that has a multispecialty team of doctors and medical specialists trained in CF to evaluate and manage your disease.

The goals of treatment include:

• Preventing and controlling infections that occur in the lungs.
• Removing and loosening mucus from the lungs.
• Treating and preventing intestinal blockage.
• Providing adequate nutrition.

 

Systemic Lupus Erythematosus (SLE)

What is systemic lupus erythematosus?

To keep the body healthy, the immune system generally fights off hazardous infections and microorganisms. An autoimmune disorder arises when the immune system mistakenly targets the body for something foreign. There are several autoimmune disorders, one of which is systemic lupus erythematosus (SLE).

Lupus has been used to describe a range of immunological disorders with comparable clinical and laboratory symptoms, although SLE is the most frequent variant of lupus. When people say lupus, they frequently refer to SLE.

 

Lupus symptoms & Signs

Symptoms can vary and can change over time. Common symptoms include:

• Severe fatigue
• Joint pain
• Joint swelling
• Headaches
• Rash on the cheeks and nose, which is called a “butterfly rash”
• Hair loss
• Anemia
• Blood-clotting problems
• Raynaud’s phenomenon

 

Causes of SLE

Although the specific etiology of SLE is unknown, several factors have been linked to the condition.

Genetics:

Although the disease is not caused by a specific gene, people with lupus frequently have family members who have other autoimmune diseases.

Environment:

Environmental triggers can include:

• ultraviolet rays.
• certain medications.
• viruses.
• physical or emotional stress.
• trauma.
• Sex and hormones.

Women are more affected by SLE than males. Women may also suffer more severe symptoms during pregnancy and menstruation. Both of these findings have led some doctors to assume that the female hormone estrogen may have a role in the development of SLE. More study, however, is required to validate this theory.

 

How is SLE diagnosed?

Your doctor will perform a physical exam to look for classic lupus signs and symptoms, such as:

• Sun sensitivity rashes, such as a malar or butterfly rash. 
• Sun sensitivity rashes, such as a malar or butterfly rash. 
• Signs of cardiac or lung involvement, such as murmurs, rubs, or irregular heartbeats.
• Hair loss.

Although no one test can diagnose SLE, the following screenings can assist your doctor in making an informed diagnosis:

• Blood tests, such as antibody tests and a complete blood count.
• Urinalysis
• Chest X-ray

Your doctor might refer you to a rheumatologist, which is a doctor who specializes in treating joint and soft tissue disorders and autoimmune diseases.

 

Treatment for SLE

There is no cure for SLE. The purpose of therapy is to alleviate symptoms. Treatment options differ based on the severity of your symptoms and the sections of your body affected by SLE. Treatment options may include:

• Anti-inflammatory drugs for joint pain and stiffness, such as these steroid creams for rashes.
• Antimalarial medications for skin and joint issues.
• Disease-modifying therapies or specific immune system agents for more severe instances.

Discuss your food and lifestyle choices with your doctor. To lessen the probability of triggering symptoms, your doctor may advise you to consume or avoid particular foods and to reduce stress. Because steroids might cause bone loss, you may need to be screened for osteoporosis. Your doctor may also advise you on preventative measures, such as autoimmune-safe vaccines and heart tests.

 

Behcet's syndrome

What is Behcet's syndrome?

Behcet's disease, commonly known as Behcet's syndrome, is an uncommon disorder that causes blood vessels inflammation throughout the body.

The condition can cause a variety of signs and symptoms that may appear unrelated at first. Mouth sores, eye inflammation, skin rashes and lesions, and genital sores are examples.

 

Causes of Behcet's disease

Behcet's syndrome may be an autoimmune condition, which means that the body's immune system targets some of its own healthy cells by mistake. Genetic and environmental factors are most likely involved.

Behcet's syndrome symptoms are thought to be caused by inflammation of the blood vessels (vasculitis). The disorder can affect arteries and veins of any size, causing damage throughout the body.

Several genes have been shown to be related to the condition. Some experts believe that a virus or bacteria can cause Behcet's disease in those who have particular genes that predispose them to the condition.

 

Behcet's disease symptoms

Behcet's disease symptoms vary from person to person and might appear and disappear or become less severe with time. The signs and symptoms vary according on whatever areas of your body are affected.

Behcet's disease frequently affects the following areas:

1. Mouth. The most prevalent symptom of Behcet's syndrome is painful mouth sores that resemble canker sores. They start off as elevated, circular lesions in the mouth and quickly progress to painful ulcers. The lesions often heal in one to three weeks, although they do recur.
2. Skin. Some people get acne-like lesions all over their bodies. Others have skin nodules that are red, elevated, and tender, particularly on their lower legs.
3. Genitals. Red, open sores on the scrotum or vulva can occur. The sores are often painful and leave scars.
4. Eyes. Uveitis (eye inflammation) produces redness, discomfort, and impaired vision in both eyes. Behcet's illness is a sickness that comes and goes in people.
5. Joints. Knee swelling and discomfort are common in persons with Behcet's disease. Ankles, elbows, and wrists may also be implicated. Symptoms and signs might last one to three weeks and then go away on their own.

 

How is Behcet's disease diagnosis?

Because there are no tests that can establish whether you have Behcet's disease, your doctor will depend only on your signs and symptoms. Because practically everyone with the disorder has mouth sores, mouth sores that recur at least three times in a year are usually required for a Behcet's disease diagnosis.

Furthermore, Behcet's disease must be diagnosed with at least two additional signs, such as:

• Recurring genital sores
• Eye inflammation
• Skin sores

Tests you might need include:

• Other disorders may be ruled out by blood testing or other laboratory procedures.
• Pathergy test, in which a sterile needle is inserted into your skin and the region is examined one to two days later. If the test is positive, you will see a little red lump beneath your skin where the needle was put. This suggests that your immune system is responding excessively to a slight insult.

 

Treatment of Behcet's syndrome

Behcet's disease has no known cure. If you have a mild form, your doctor may recommend drugs to manage the pain and inflammation associated with flares. Between outbreaks, you may not require medicine.

In addition to treatments for flares, your doctor may give medications to manage the Behcet's disease throughout your body if your signs and symptoms are severe.

The following medications may be used to manage the signs and symptoms you experience during flares:

• Creams, gels, and ointments for the skin. To relieve inflammation and discomfort, topical corticosteroid medications are administered directly to the skin and genital sores.
• Mouth rinses. The use of special mouthwashes containing corticosteroids and other medicines may help to alleviate the discomfort of mouth sores.
• Eyedrops. If the inflammation is minor, eyedrops containing corticosteroids or other anti-inflammatory medications can alleviate discomfort and redness.

If topical treatments are ineffective, your doctor may prescribe colchicine (Colcrys, Mitigare) for persistent oral and genital sores. Colchicine may also help with joint swelling.

Severe instances of Behcet's syndrome need medications to reduce disease damage between flares. If you have Behcet's disease that is moderate to severe, your doctor may prescribe systemic corticosteroid and immunosuppressive drugs.

 

Sarcoidosis

What is Sarcoidosis?

Sarcoidosis is an uncommon disease that causes little patches of red and swollen tissue called granulomas to form in the body's organs. It often affects the lungs and the skin.

 

Causes of sarcoidosis

Normally, the body's immune system fights infections by releasing white blood cells into the bloodstream to identify and eliminate pathogens. This causes inflammation (swelling and redness) of the tissues in that location of the body. The immune system reacts in this way to anything in the blood that it does not recognize, and it dies down after the infection is cleared.

Sarcoidosis is hypothesized to occur when the immune system goes into "overdrive," causing the body to attack its own tissues and organs. Granulomas form in the organs as a result of the accompanying inflammation.

There are numerous related disorders produced by the body attacking its own tissues, such as rheumatoid arthritis and lupus. These are referred to as autoimmune diseases.

 

Sarcoidosis signs & symptoms

Some people's symptoms grow gradually and worsen over time, eventually leaving them badly impaired. A large number of granulomas can grow in an organ, preventing it from functioning normally. This is referred to as chronic sarcoidosis.

Sarcoidosis is most commonly seen in the lungs, skin, and/or lymph nodes (glands).

Lung symptoms:

Approximately 90% of persons with sarcoidosis have lung problems. This is referred to as pulmonary sarcoidosis.

Shortness of breath and a persistent dry cough are prominent symptoms. Some persons with pulmonary sarcoidosis report chest pain and discomfort, although this is unusual.

Skin manifestations:

Many persons with sarcoidosis have skin problems.

This can result in tender, red lumps or patches on the skin (especially on the shins), as well as upper-body rashes.

Other symptoms:

If other organs are affected, you may also have some of the following symptoms:

• tender and swollen glands in the face, neck, armpits, or groin
• tiredness and a general feeling of being unwell
• painful joints
• red or sore eyes
• abnormal heart rhythm
• blocked or stuffy nose
• pain in the bones
• kidney stones
• headache

 

Diagnosing sarcoidosis

Depending on which organs are damaged, a variety of tests may be performed to diagnose sarcoidosis.

If your symptoms point to pulmonary sarcoidosis (sarcoidosis of the lungs), you may be subjected to a chest X-ray or a computerized tomography (CT) scan of your lungs to search for evidence of the disease.

In certain situations, doctors may wish to inspect the inside of your lungs with an endoscope, which is a long, thin, flexible tube with a light source and a camera at the end that is sent down your throat. During this procedure, a tiny sample of lung tissue may be extracted and examined under a microscope. This is referred to as a biopsy.

If doctors think you may have sarcoidosis affecting other organs – such as the skin, heart, or eyes – scans or examinations of these areas will usually be carried out.

 

How Sarcoidosis is Treated?

Most people with sarcoidosis do not require treatment because the condition usually resolves on its own within a few months or years.

Simple lifestyle adjustments and over-the-counter pain relievers (such as paracetamol or ibuprofen) are frequently enough to manage the discomfort of any flare-ups.

Doctors will keep an eye on your condition to see if it improves or worsens without therapy. This can be accomplished by routine X-rays, respiratory tests, and blood testing.

Steroid pills are often used when therapy is advised.

This helps to relieve symptoms and protect affected organs by lowering inflammation and scarring.

 

Conclusion

While some conditions affect just one organ or area of the body, others might affect many organs or parts of the body at the same time. These are referred to as multisystem disorders.

There is a significant group of severe illnesses that have many symptoms and can impact so many organs that they cannot be linked to a single primary organ system. 

Systemic lupus erythematosus, Behcet's disease, sarcoidosis, and cystic fibrosis are the most common examples of multisystem diseases. 

In contrast, there are numerous disorders that affect many body systems but often have the greatest influence on only one (e.g. rheumatoid arthritis).