Patients with Schnitzler syndrome suffer from chronic hives, bone pain and an increase in monoclonal antibodies in the gamma fraction. A causal therapy for the autoimmune disease does not yet exist because the etiology is unknown. PUVA therapy has proven itself against hives.
What is Schnitzler Syndrome?
Schnitzler Syndrome is a rare and underdiagnosed condition named after French dermatologist L. Schnitzler. He became the first to describe the disease in 1972. Hardly a few hundred cases have been reported since it was discovered. The disease occurs most frequently from the age of 50 on average. Affected persons under the age of 35 have only rarely been found in the past. See bestitude for Meanings of Colon Cancer.
Schnitzler syndrome is characterized by chronic urticaria and a pathological elevation of monoclonal antibodies in the gamma fraction of blood proteins. Monoclonal antibodies have an identical molecular structure and are specialized for the same determinant of the specific antigen.
In view of its rarity, Schnitzler syndrome has not yet been fully researched. The majority of all research results come from recent research and relate to only about 100 known cases. Because of this research situation, all connections to Schnitzler syndrome are to be regarded as rather uncertain.
Current research on Schnitzler syndrome suggests an autoimmune etiology. However, the causal relationship has not been conclusively researched. When proposing the autoimmune disease, research is based primarily on the monoclonal antibodies of the gamma fraction, which have so far been detectable in all patients.
Little is known about the etiology of autoimmune diseases. An incorrect programming of the immune system is considered to be the cause of the disease group. However, the primary cause of Schnitzler syndrome that triggers the outbreak of the disease has so far remained a mystery. For example, certain viral infections should be considered.
In the cases examined so far, however, no common pre-existing conditions could be identified. Due to the small number of known cases, research into the causes will probably continue for years or even decades.
Symptoms, Ailments & Signs
The first symptoms of Schnitzler syndrome come from the area of urticaria. Appears without itching in approximately half in the early stages but may become itchy over time. Periodic fever and weight loss characterize the picture. The same applies to arthralgia. Hives mostly appear on the torso, arms and legs. The palms, soles, head, and neck are usually unaffected by the lesions.
Angioedema and bone pain have also been reported in some patients . Swelling of the lymph nodes, hepatosplenomegaly and fatigue can also occur. The spleen and liver are enlarged in some patients. Schnitzler syndrome has a chronic course that can result in systemic amyloidosis.
In addition, more than ten percent of cases develop lymphoproliferative diseases such as lymphoma or Waldenstrom’s disease. It usually takes ten or even twenty years for these complications to occur.
Diagnosis & course of disease
The dermatologist makes the diagnosis of Schnitzler syndrome on the basis of clinical and laboratory tests. Immunoelectrophoresis shows monoclonal gammopathy. In addition, the ESR can be greatly increased. Irregularities such as leukocytosis, thrombocytosis or anemia can be observed in the blood count. Adult Still’s syndrome should be considered in the differential diagnosis.
Lymphomas, cryoglobulinemia or systemic lupus erythematosus should also be considered in the differential diagnosis. The same is true for Quincke’s edema, Hyper-IgD syndrome, CINCA syndrome, and Muckle-Wells syndrome. So far, research has assumed that there are a large number of unreported patients who have probably been misdiagnosed due to the large number of differential diagnoses.
The life expectancy of patients with Schnitzler syndrome is not affected. However, regular examinations are indicated in order to detect lymphoproliferative sequelae in good time.
Various complications can occur as a result of Schnitzler syndrome. Typical of the disease are weight loss and secondary diseases such as hives. This can be accompanied by oedema, bone pain and swelling of the lymph nodes. Chronic fatigue rarely occurs.
When the spleen and liver are enlarged, it can cause various symptoms such as persistent pain and inflammation of the organs. In more than ten percent of cases, diseases such as lymphoma or Waldenstrom’s disease also develop – complications that usually occur ten to twenty years after the illness. The chronic inflammation also carries the risk of amyloidosis, which in turn is associated with serious complications. Finally, Schnitzler syndrome increases the risk of thrombosis and bone disease.
The therapy of the rare disease carries the risk of serious side effects and interactions. For example, the painkillers used can sometimes cause inflammation- related anemia. The use of antihistamines and chloroquine can lead to gastrointestinal complaints, joint and muscle pain and often to skin irritation. Itching, nausea and reddening of the skin can occur as part of PUVA therapy. Acne, skin pigmentation and hair follicle inflammation are very rare. Bleeding into the nail bed can also occur in rare cases.
When should you go to the doctor?
Schnitzler syndrome must always be treated by a doctor. Self-healing is not possible with this disease, so that the affected person is usually always dependent on medical treatment. Only early and direct treatment can prevent further complications.
A doctor should be consulted if the patient suffers from severe itching. It is not uncommon for fever and a significant loss of weight to occur. If these symptoms occur for no particular reason, a doctor must be consulted immediately. Furthermore, severe pain in the bones or general tiredness and exhaustion often indicate Schnitzler syndrome and must also be examined by a doctor.
In the case of Schnitzler syndrome, the family doctor can be consulted. Further treatment is then carried out by a specialist doctor, although complete healing is usually not possible. Since Schnitzler syndrome can also lead to psychological problems or depression, a psychologist should also be consulted.
Treatment & Therapy
The therapy of Schnitzler syndrome turns out to be just as difficult as the diagnosis. Since the causes have not been finally clarified, no causal therapy is available. Only symptomatic therapies can be implemented. However, symptomatic treatment can also be difficult. Hives in particular are difficult to treat because NSAIDs are only effective for a short time or not at all for the patient.
The same goes for antihistamines, hydrochloroquine, or chloroquine. Until now, patients have been given glucocorticoids, immunoglobulins and plasmapheresis on an experimental basis. However, these measures have not proven to be effective against hives either. Only PUVA therapy has proven to be the solution in some cases. Treatment is easier for the intermittent bouts of fever and bone pain.
NSAIDs are suitable for therapy in this context. As a complication of treatment, inflammation-related anemia sometimes occurs. In the past, however, patients with this complication could be successfully treated with glucocorticoids. In individual cases of illness, the patients were given interleukin-1 antagonists. This treatment has proven to be effective in individual cases. In addition to treatment, patient monitoring is an important precautionary step.
Complications such as lymphoma should be treated as soon as possible. Patients with Schnitzler syndrome are therefore called upon to closely monitor their own course of the disease and to contact a doctor if complications are suspected. Although Schnitzler’s patient died from a complication of the syndrome when it was first described, the lives of today’s patients are not in immediate danger thanks to medical advances.
The causes of Schnitzler syndrome are still unknown. The same is true for almost all other autoimmune diseases. For this reason, the syndrome can hardly be prevented in view of the research situation.
Aftercare for Schnitzler syndrome focuses on treating the characteristic symptoms. As a rule, the severity and its duration vary. Typical symptoms of Schnitzler syndrome can be chronic urticaria (nettle rash), bone and muscle pain, joint pain, bouts of fever, exhaustion and eye inflammation.
Symptoms that appear can usually be alleviated with anti-inflammatory drugs (diclofenac, ibuprofen) or high doses of cortisone. However, prolonged use of cortisone can lead to serious side effects. Following the clinical stay, regular visits to a doctor are recommended for routine diagnostics. The clinical findings should be continuously monitored during follow-up care.
Blood tests are required every three months. When it comes to aftercare for Schnitzler syndrome, the general rule is that the consumption of certain foods has no effect on the course of the symptoms. In summer, however, the symptoms can be less pronounced than in winter. In individual cases, the effect of the inflammatory substance interleukin-1 can be inhibited with medication.
The typical symptoms then remain absent. Another task of aftercare is to detect diseases resulting from Schnitzler syndrome at an early stage. There is a risk of amyloidosis. It can also not be ruled out that the blood-forming system becomes ill (lymphoma). Schnitzler syndrome requires lifelong treatment.
You can do that yourself
In the case of Schnitzler syndrome, the most important self-help measure is to protect the affected joints and change your lifestyle accordingly. Before starting therapy, the affected persons should be intensively instructed by a specialist in the necessary measures.
In the case of persistent skin changes, home remedies or homeopathic remedies can also be used. The patient should consult the family doctor, who can name further measures against itching, redness and bleeding. The stability of the bones and joints can be improved by suitable physiotherapy measures. The patient should consult a physical therapist and, if possible, practice independently at home.
Prompt hospital treatment is required for serious complications such as AA amyloidosis. It is best for the relatives to consult the medical emergency service so that the necessary countermeasures can be taken immediately. Emergency medication may be given. The doctor must first check the injection sites. If inflammation or other symptoms occur here, further treatment is required. In the case of other unusual phenomena, the doctor must be informed.