Adult Onset Still’s Disease

It’s mysterious and it’s rare. It affects approximately 1 in 300,000 people.  Still’s Disease mainly affects children. But there’s even a rarer form which strikes adults — Adult Onset Still’s Disease (AOSD)

AOSD is a very rare inflammatory condition that attacks internal organs, joints and other parts of the body. It can appear and disappear suddenly. In very severe cases, AOSD can become chronic and extremely debilitating, causing terrible pain and stiffness. After many years, the disease can cripple vital organs such as the heart and lungs and liver.

There are treatments, mainly anti-inflammatory drugs and steroids that help with most AOSD symptoms. Until recently, and still, little is known about its causes, and very few physicians have seen it or heard of it, but medical researchers are starting to learn more about AOSD. With this knowledge comes the promise of new and better treatments.

AOSD gets its name from Dr. Still, a renowned British pediatrician, who first identified the childhood form of the disease. Though rare, it is found worldwide and predominantly affects young adults between 16 and 35.

 AOSD does not run in families. The disease is difficult to diagnose, and it is often diagnosed after many other diseases have been ruled out.  It is so rare that many doctors have not seen it and many patients suffer for years until a correct diagnosis is made. Often a late diagnosis has caused irreversible damage to vital organs and joints.   AOSD is difficult to distinguish from a number of other conditions that cause unexplained fever as well as joint pain, rashes swollen glands and muscle pain. 

As with my case, I was hospitalized 10 days then released home. I suffered, with daily fevers, vomiting, weight loss, extreme joint pain, neck glands swollen, whole body rash, that comes on nightly,  until I was finally diagnosed 3 months later by a compassionate and knowledgeable physician.

Symptoms of AOSD
Common symptoms of AOSD include those on the following list. It is important to remember that there is no definite pattern that AOSD symptoms follow. In some cases, only one or two symptoms occur immediately; others may follow later. Aside from fever and joint pain, which are almost always among the first signs of AOSD, some of the symptoms on this list may not appear for weeks, or even at all.

Fever
The first sign of AOSD is a high spiking fever of 103 degrees or above, severe shaking chills. The fever usually rises rapidly in the evening at a usual time, drenching night sweats and then subsides to or near normal by the next morning. Occasionally, an unusual pattern of two fever spikes in a day is seen in one-fifth of AOSD sufferers.

Rash
The typical Still’s rash is salmon pink in color and comes and goes unpredictably, although it sometimes occurs at the same time as high fever. It is most common on the chest and thigh, although it may also appear on the face, hands and feet. In some cases, the rash is not itchy. 

 Joint and Muscle Pain
At some point, every AOSD sufferer experiences intense joint pain, often in the shoulders, hands, wrists or knees. The pain can migrate from area to area daily. The pain often comes on in late hours of the night, waking the sufferer with excruciating pain and is worse by morning. This can be accompanied by severe muscle pain as well. Both may become worse during a fever spike. 

 Sore Glands in Throat
Most AOSD sufferers come down with a sore, swollen glands that are usually described as a severe, constant burning pain in the area around the pharynx with difficulty swallowing.

Heart and Lung Symptoms
These include pain, difficulty breathing with deep inspiration. Sometimes the sufferer develops a cough that lasts day and night which can result in vomiting during a coughing spasm, as happened during my ASOD initial onset. Other problems that can occur can be mistaken for an infection of tissue within the heart.

 Abdominal Pain
This can be caused by swollen lymph nodes, as well as enlargement of the spleen or liver. These symptoms are also sometimes attributed to other causes.

 Abnormal White Blood Cell Count and Other Blood Abnormalities
These can be easily detected using a variety of blood tests. Most patients with AOSD have greatly elevated white blood cell counts which may lead their doctors to suspect an underlying infection or even leukemia. However, the cultures of the blood and other sites are always negative and the blood and bone marrow do not show the abnormal cells found in leukemia. A group of tests referred to as “acute phase reactants” are almost always abnormally elevated in AOSD. The two most commonly associated with AOSD are an elevated sedimentation rate (ESR) and an unusually high blood ferritin level.   ANA and RA factors will usually be negative.

Diagnosis of AOSD
While there is no simple test for AOSD, most physicians will make the diagnosis if a person has five or more of the criteria below, including two or more from the first (major criteria) list:

 Major AOSD Criteria

1. High fever lasting one week or longer
2. Joint pain lasting two weeks or longer
3. Rash
4. Abnormal white blood cell count and other blood problems

Minor AOSD Criteria

1. Sore throat, swollen glands
2. Swelling of the lymph nodes or spleen
3. Liver problems
4. Absence of rheumatoid arthritis labs

Joint and Muscle Pain
Occasionally the diagnosis of AOSD may be supported by the finding of soft tissue swelling, bone loss and damage to the wrist, hand, hip, knee and spinal joints.

Diseases that Mimic AOSD Symptoms
An important part of detecting AOSD is ruling out other diseases that can cause similar symptoms. Some of the prime suspects are:

• Infections such as hepatitis, rubella, parvovirus,coxsackie, EBV (Epstein-Barr virus) CMV (cytomegalo virus) and HIV (AIDS)
• Infective endocarditis (an infection of the heart tissue)
• Tuberculosis
• Lyme disease
• Ehrlichiosis
• Sarcoidosis
• Hepatitis
• Crohn’s disease
• Cancer, including leukemia and lymphoma
• Connective tissue disease, such as SLE (Lupus)

Causes of AOSD
We do not know the exact cause AOSD but researchers are currently investigating a number of possibilities:

• Infection
  The abrupt appearance of high fever, sore throat, rash, lymph node swelling and abnormal white blood cell counts suggest some kind of infectious trigger. While no particular cause of infection has been found, the rubella (German Measles) virus has been detected in many people with AOSD cases. Researchers have also found some association between AOSD and EB, CMV, mumps, parainfluenza, and other viruses.
• Immune Disorder
• Genetics

Treatment and Prognosis
The most widely used treatment for AOSD symptoms is non-steroidal anti-inflammatory drugs (NSAIDs).  Usually a person with AOSD will use this medication at home, find that it does improve symptoms for very long, usually just a few hours.  Statistically, 20-25% of AOSD sufferers improve with NSAIDs.  Some AOSD sufferers  find that their symptoms clear up quickly, sometimes for good. 

 In acute or severe cases, corticosteroids are prescribed to address heart, liver, blood, and other life-threatening problems that AOSD can cause.  Anti-TNF therapy, aimed at a component of the immune system, may be a promising treatment.¹⁰

 Because corticosteroids have serious side effects, they cannot be used to treat AOSD over a period of years.  Instead, depending on the individual case, doctors prescribe drugs such as methotrexate, IM gold, D-penicillamine, hydroxychloroquine and azathioprine.

Summary
Though not common, AOSD is a serious and potentially debilitating disease that can cause serious damage and other problems to the joints, heart, lungs, liver and spleen. While some AOSD sufferers have only a mild form of the disease that responds well to safe NSAID drugs, others come down with a severe, chronic form that is more difficult to treat that can cause long term pain and disability or even death, especially when the diagnosis is made too late and major organ failure results.

  This is information I have gathered during my illness. I am not a doctor. I am just an AOSD sufferer, providing some information that can possibly help another suffering person.