SAPHO syndrome is a disease in the group of rheumatic diseases associated with the cardinal symptoms of synovitis, acne, pustulosis, hyperostosis, and osteitis. The cause is thought to be a skin infection. To date, treatment has been on a purely symptomatic basis.
What is SAPHO syndrome?
Rheumatic diseases form a form circle of diseases with associated pain conditions of the musculoskeletal system. A multifaceted disease from the form circle of rheumatic diseases is the so-called SAPHO syndrome. The name is an acronym of the first letters of the characteristic symptoms. Accordingly, the symptoms mainly include synovitis, acne, pustulosis, hyperostosis and osteitis. In most cases, the individual symptoms are not immediately identified as a coherent clinical picture due to variability in expression. SAPHO syndrome generally affects young women and men. Neither incidence nor prevalence of the syndrome is yet certain. Since only about 20 cases have been documented within 20 years, a relatively low incidence is suspected. The syndrome is associated with skin infections, psoriasis, sacroiliitis, intestinal disease, and Lyme disease.
Causes
The exact etiology of SAPHO syndrome is not yet known. A uniform etiology is not expected because of disease variability. Because all cases of the syndrome appear to be associated with dermatologic symptoms, a causative skin infection is currently considered the most likely cause. The etiopathogenesis therefore speculates on a causative subclinical infection in the form of, for example, acne, from which an immune-reactive osteomyelitis could develop. The accompanying symptomatic periostitis and the phasic bone pain of the patients could also be due to this cause. The same applies to the adjacent synovitis. How the correlations might be in detail has not been conclusively clarified. Genetic factors may also be involved in the development of the disease. At least that is suggested by the cmo mouse animal model, which documented familial clusters.
Symptoms, complaints, and signs
Patients with SAPHO syndrome suffer from symptoms of varying severity and variability. The cardinal symptoms are considered to be the acronym-forming symptoms of synovitis, acne, pustulosis, hyperostosis, and osteitis. In many cases, the symptoms are entirely different in different patients. The leading symptoms are usually associated with other signs of the disease, especially fatigue, severe pain symptoms or gastrointestinal symptoms. Due to their dermal symptoms, patients are often disfigured. Due to their pain, they are also limited in their ability to participate in daily life. The pustulosis of affected individuals is usually concentrated in the hands and feet. Hyperostoses are present preferentially in the sternoclavicular joint. Ostitis may present as spondyloarthropathy, spondylodiscitis, chronic recurrent multifocal osteomyelitis, or pustular arthroosteitis. Not every patient may present with each of the five cardinal symptoms.
Diagnosis and course of disease
Elevation of the markers HLA-B8 and HLA-B27 is not a mandatory diagnostic criterion for SAPHO syndrome. Only a proportion of patients show an elevation. For the diagnosis, the synopsis of the symptoms is decisive. In many cases, the variability of expression makes early diagnosis difficult. Diagnosis is based on imaging techniques such as skeletal scintigraphy and MRI, since all laboratory findings in SAPHO syndrome are considered to be of little character. Early diagnosis suggests a favorable prognosis. However, because the syndrome in its entirety is usually not brought to diagnosis until the advanced stages, an absolutely favorable prognosis is rare. In later stages of the syndrome, the prognosis depends heavily on the symptoms, which may vary extremely in severity from case to case.
Complications
First and foremost, those affected with SAPHO syndrome suffer from severe skin discomfort. This can also result in reduced aesthetics, so that affected individuals no longer feel comfortable or suffer from inferiority complexes and significantly lowered self-esteem.Bullying and teasing can also occur and have a negative effect on the patient’s mental state, so that the syndrome can lead to psychological upsets or depression. Furthermore, most patients of the syndrome also suffer from fatigue and permanent tiredness, which, however, cannot be compensated with the help of sleep. Even everyday things and activities are difficult for most of those affected, so that they are dependent on the help of other people in everyday life. Most patients depend on psychological treatment to alleviate the symptoms. However, the use of medication is also necessary for this syndrome. As a rule, life expectancy is not affected.
When should you see a doctor?
SAPHO syndrome must always be treated by a doctor. In the worst case, it can also lead to the death of the affected person if timely treatment of the syndrome does not take place. For this reason, early diagnosis and treatment of the syndrome always have a positive effect on the further course of the disease. A doctor should be consulted if the patient suffers from very severe acne. In this case, there are also pustules on the skin and the skin is usually affected by redness and itching. In many cases, fatigue also indicates the disease, especially if it occurs over a long period of time and also without a particular reason. However, not all symptoms need to be present to indicate SAPHO syndrome. Initial diagnosis of the syndrome may be made by a general practitioner or by a dermatologist. The life expectancy of the affected person is not limited or reduced by the disease. As a rule, the syndrome can be treated relatively well, usually resulting in a complete cure.
Treatment and therapy
The therapy of SAPHO syndrome so far corresponds to a purely symptomatic treatment. Since the causes have not been conclusively clarified, only the individual symptoms can be treated. Thus, the syndrome is not curable to date. Non-steroidal anti-inflammatory drugs such as NSAIDs are available for the symptomatic treatment of patients. In addition, patients usually have to change their lives as part of the treatment and thus, for example, permanently avoid painful stress. In many cases, physiotherapeutic care has led to an improvement in symptoms and especially in pain symptoms. Since an immunological connection suggests itself, immunosuppressive substances such as corticosteroids are also currently used to treat those affected. Furthermore, therapeutic approaches with substances such as MTX and colchicine have been described. Additional therapeutic approaches are offered with bisphosphonates such as zoledronic acid. Individual antibiotics are also currently being tested, for example doxycycline and azithromycin. Immunosuppressive therapy may also be served by interferon therapy. Since SAPHO syndrome is often perceived by patients as a disfigurement, psychotherapeutic care accompanies physical therapy in individual cases. In therapy, patients learn to cope better with their disease and to process the experience of disfigurement. Stabilization of the psychological situation has shown positive effects on the course of the disease in connection with many different diseases and, in individual cases, has even alleviated subjectively perceived pain problems.
Prevention
Although there are now logical speculations as to the cause of SAPHO syndrome, the definitive causes are nevertheless not yet known in detail. Because the etiology is not clear, no prophylactic measures are available to date. Thus, nothing can prevent the syndrome at the present time.
Follow-up
In most cases, affected individuals with SAPHO syndrome have very few and also very limited measures of direct aftercare available to them. For this reason, affected individuals should seek medical attention for this disease at a very early stage, thereby also preventing potential other complications and symptoms, as it cannot heal on its own. Since SAPHO syndrome is a genetic disease, it cannot be completely cured. Therefore, if a child is desired, genetic testing and counseling should always be performed first to prevent recurrence of the disease in the descendants.In most cases, SAPHO syndrome can be well alleviated by the measures of physiotherapy or physiotherapy. The affected person can also perform many of the exercises at home to prevent the occurrence of other complaints and to speed up the healing process. Most sufferers of SAPHO syndrome are also dependent on taking medication. All the doctor’s instructions should be followed, and a doctor should be consulted first if there are any questions or if anything is unclear. Likewise, the prescribed dosage and also regular intake should be observed.
This is what you can do yourself
Patients diagnosed with SAPHO syndrome can take various measures to alleviate their symptoms. Keeping the body adequately warm, avoiding drafts, and wearing protective clothing in a cold environment are advised. They promote well-being and avoid possible complications. The musculoskeletal system should be adequately protected from situations of overload. The performance of everyday tasks should be done according to the organism’s specifications. If possible, the completion of physical activities or obligations in everyday life should be restructured. They should be redistributed in consultation with people from the close environment. Exercises and training units from the field of physiotherapy can help to achieve relief from existing complaints. These training sessions can be used independently by the affected person at any time in everyday life. They support the organism and help to cope with the disease. Cognitive therapies can help in dealing with existing pain. Patients report that methods of relaxation are also helpful. The regular use of autogenic training, meditation or yoga have shown that they can bring success as ways of self-help. Patients often complain of fatigue. They should allow themselves sufficient rest periods in everyday life and allow the body time to regenerate. Optimization of sleep hygiene is additionally advisable for this purpose.
