What is SAPHO Syndrome: Causes, Symptoms, Treatment, Prognosis

What Is SAPHO Syndrome?

SAPHO Syndrome is the name given for a combination of disorders involving the skin, bones, and joints. SAPHO is an abbreviated form of Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis.

Synovitis is a disorder characterized by inflammation of the synovium, which is the lining of the joints resulting in pain, tenderness, warmth, and swelling of the joints.

Acne as is well known is a skin disorder characterized by inflammation with development of pus at the hair follicles. This condition is mostly seen in the face and the upper back.

Pustulosis is yet another skin condition in which there is severe inflammation causing large pustules normally on the palm of the hands or the soles of the feet. The skin of the affected area often peels and flakes are formed in the affected area.

Hyperostosis is an abnormal musculoskeletal condition in which there is abnormal growth of bone normally at the attachment site of the bone and the tendon.

Osteitis is a condition in which there is inflammation of the bone along the sacroiliac joints as well as spondylitis causing severe pain and stiffness in the neck and back. These are the five disorders which when combined result in the development of SAPHO Syndrome.

What Causes SAPHO Syndrome?

The exact reason for the development of SAPHO Syndrome is not yet known, but researchers are of the opinion that genetic makeup may play a role in the development of this condition suggesting that this condition may be an inherited disorder. This is suggested by the prevalence of HLA-B27, which is a genetic blood marker seen mostly in individual with SAPHO Syndrome.

There are also some researchers who believe that SAPHO Syndrome may be a variant of arthritis affecting the spine also known as spondyloarthropathies, but all these explanations are hypothetical and further proof as to the exact cause of SAPHO Syndrome is still under investigation.

What Are The Symptoms of SAPHO Syndrome?

The symptoms of SAPHO Syndrome are a combination of the symptoms caused by the disease condition that form a part of this condition. Pain, stiffness, warmth, and swelling of the affected joint are the primary presenting features of SAPHO Syndrome. The areas most affected usually tend to be spine, fingers, wrists, and knees.

There will also be development of pustular nodules, which may have pus in them characteristic of acne nodules normally in the palms of the hands and soles of the feet. Other than this, the symptoms that are characteristic of osteitis and pustulosis are also prevalent in individuals with SAPHO Syndrome.

How Is SAPHO Syndrome Diagnosed?

The presenting features of an individual in most cases are good enough for a physician to suspect a diagnosis of SAPHO Syndrome. Once SAPHO Syndrome is suspected, the physician may order blood tests to look for HLA-B27 in the blood, which will be more prevalent in SAPHO Syndrome. Once the presence of HLA-B27 is confirmed then the physician can confirmatively, give a diagnosis of SAPHO Syndrome.

How Is SAPHO Syndrome Treated?

The treatment of SAPHO Syndrome is symptomatic and directed towards the specific symptoms that the patient exhibits. The usual mode for treatment is by utilizing medications to decrease inflammation in the areas that are affected by SAPHO Syndrome. These medications include NSAIDs like Tylenol or ibuprofen and if they are ineffective then cortisone injections is given directly to the affected area to calm down the inflammation, pain, and swelling. In certain cases, the patient may be treated with oral cortisone medications as well for SAPHO Syndrome.

Topical creams may also be given for treatment of inflammation and swelling and to decrease the size of the pustules caused by SAPHO Syndrome.

For individuals who have severe pain in joints due to SAPHO Syndrome, methotrexate has been tried, but the success of the medication is something that is quite varying. Rituximab has shown some promise in the treatment of SAPHO Syndrome.

What Is The Overall Prognosis of SAPHO Syndrome?

The prognosis of individuals with SAPHO Syndrome is variable and depends on the age, health status, and response to the medications given for treatment of this condition. If the patient is responsive to medications like methotrexate or rituximab, then the overall prognosis is quite good for individuals with SAPHO Syndrome.

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