• Monday May 25,2020

Cryopyrin-associated periodic syndrome

As a cryopyrin-associated periodic syndrome, three diseases in the field of autoinflammatory diseases are known, which are due to the same mutation. The diseases are among the periodic fever syndromes and run in batches. So far, all three syndromes can only be treated symptomatically and medically.

What is cryopyrin-associated periodic syndrome?

Urticaria is one of the core symptoms of the three diseases in addition to fever, fatigue, deafness, arthralgia and myalgia.
© Svyatoslav Lypynskyy - stock.adobe.com

In autoimmune diseases, the immune system of the patient is directed against his own body. The disease group of autoimmune diseases includes various subcategories, such as autoinflammatory diseases with activation of nonspecific immune defense.

The most important characteristic of this disease group is inflammation caused by the immune system. The cryopyrin-associated periodic syndrome involves various autoinflammatory diseases that go back to the same cause. Three different diseases belong to the CAPS disease group: FCAS, MWS and NOMID. Well under 1000 patients are known worldwide. The prevalence is estimated at one or two cases among one million people.

It is estimated that there is a high number of unreported cases. All diseases from the group of the cryopyrin-associated periodic syndrome belong to the periodic fever syndromes. These fever syndromes are rare, monogenic inherited diseases that trigger feverish spasms of the immune system at irregular intervals. The course of the disease varies between mild and lethal.

causes

The cryopyrin-associated periodic syndrome does not appear to be sporadic in all cases. Familial accumulations were observed in the previously documented cases, especially for the FCAS group of the disease. The heredity distinguishes most of the periodic fever syndromes. Presumably, inheritance of the CAPS is based on an autosomal dominant inheritance. The primary cause of the syndrome is a genetic mutation.

On the basis of previous research results, science assumes that there is a genetic defect in the NLRP3 gene. This gene encodes human DNA for cryoporin. This substance is an element of IL-1 inflammasome and thus an important part of protein complexes of the nonspecific immune system.

The defective gene initiates overproduction of IL-1b, causing systemic inflammatory responses. Since the cause of the CAPS is a genetic defect, the disease group can be assigned to the immunodeficiencies instead of the autoimmune diseases.

Symptoms, complaints & signs

The symptomatic manifestation of CAPS depends on the subtype. Urticaria is one of the core symptoms of the three diseases in addition to fever, fatigue, deafness, arthralgia and myalgia. FCAS manifests as a familial cold-induced illness.

This is the lightest form that causes a thrust two to three hours after exposure to cold. The thrust is flu-like and is accompanied by fever, headache and chills. This is to be distinguished from the Muckle-Wells syndrome (MWS), which usually manifests itself in early childhood for the first time. The relapses last longer than 24 hours and are more common than at the FCAS.

Not only cold, but also stress and fatigue cause relapses. In a quarter of patients, systemic amyloidosis is observed during relapses, which, if left untreated, can lead to renal failure. The last disease from the CAPS group is the chronic infantile neuro-cutaneo-articular syndrome and corresponds to the most severe CAPS manifestation.

The manifestation takes place on the baby. Symptoms can change from a relapsing to a persistently chronic form. Symptomatic, the CNS involvement makes the disease. In addition to aseptic meningitis, increased intracranial pressure or seizures may also cause joint involvement.

Lymph node swelling, high fever and hepatosplenomegaly accompany the symptoms. Patients of this form are additionally slowed down and sometimes suffer from inner ear hearing loss or inflammatory ocular involvement, which can lead to blindness.

diagnosis

The safest type of diagnosis for CAPS is molecular genetic analysis. If one of the three conditions is suspected, the doctor will examine the patient's DNA for the typical genetic change.

If the mutation can be detected, the diagnosis is considered proven. The prognosis depends strongly on the form and the course in the individual case and is most favorable for FCAS patients.

Treatment & Therapy

CAP syndromes are not yet curable, as gene therapy measures have not yet reached the clinical stage. The therapy is symptomatic and usually corresponds to a conventional treatment of the drug therapy. The drugs are used for prophylactic prophylaxis and at the same time reduce the symptoms of a thrust.

For example, NSAIDs / NSAIDs can be used to alleviate the symptoms and are painkillers and antipyretics. Antihistamines are only suitable for FCAS patients. Steroids are suitable for all three groups and include, for example, a cortisone treatment. Many patients with autoimmune diseases are also prescribed immunosuppressants.

In the case of the CAPS, the application is especially suitable for MWS or NOMID patients. In patients of the mildest form, suppression of the immune system is usually unnecessary. Patients with FCAS or MWS are also encouraged to prevent relapses as much as possible. For example, warm drinks, warm baths, several layers of clothing and the reduction of physical and mental stress can serve this purpose.

Depending on the symptoms, patients with severe NOMID may need further treatment. This can include, for example, a supply of hearing aids. Ophthalmic procedures may also be required for inflammatory reactions in the eye area.

Outlook & Forecast

The prognosis of the cryopyrin-associated periodic syndrome is unfavorable. The disease is genetically determined and can not be cured according to the current legal and medical requirements. The treatment plan is created individually and is aimed at alleviating the symptomatic symptoms.

The cryopyrin-associated periodic syndrome consists of a total of three diseases, which are different in their appearance and their respective expression in each patient. The intensity of the syndrome is largely responsible for the prospect of ameliorating the symptoms present. Since the course of the disease usually occurs in batches, the patient can experience periods of complete remission.

At a mild form of a syndrome the thrust remains for 24 hours. Subsequently, the symptoms gradually form completely back. The mean manifestation can end in many cases of adverse effects in the worst case in a disturbance of kidney activity. This threatens the patient organ failure. This represents a life-threatening situation.

In the most severe form of the cryopyrin-associated periodic syndrome, there is usually no complete relief of the symptoms. The symptoms do not recede completely but remain permanently. This represents a significant reduction in the quality of life and may lead to other diseases. In addition to the physical impairments threaten mental disorders that contribute to a further deterioration of the prognosis.

prevention

The diseases of the CAPS group are genetic diseases. External factors for the pathogenesis are not yet known. For this reason, no preventive measures exist so far. Only genetic counseling in family planning can be described in the broadest sense as a preventive measure.

aftercare

In the case of this syndrome, further follow-up measures depend very much on the exact nature and severity of the symptoms, so that no general prognosis can be made. However, in the case of this disease, early detection of the symptoms has a very positive effect on the further course and can also prevent or limit further complications and complaints.

The sooner the syndrome is recognized, the better is usually the further course of the disease, so that the affected person should consult a doctor at the first symptoms and complaints. In most cases, the intake of different medications needed.

It is always important to pay attention to the correct dosage and also to the regular intake of the medication to permanently reduce the symptoms. Often, those affected continue to rely on the support and help of their own family or friends to prevent mental upset or depression. It also requires regular visits to a doctor to check the condition of the disease permanently. It may be due to this disease to a reduced life expectancy of the patient.

You can do that yourself

The cryopyrin-associated periodic syndrome involves three autoinflammatory diseases that are due to the same genetic defect. There are no traditional medical or alternative methods that treat the disease causally. What the patient himself can contribute to the improvement of his state of health depends on the extent to which the illness occurs in him.

The mildest form is the so-called familial cold-induced autoinflammatory syndrome (FCAS). As the name implies, the symptoms of FCAS are triggered by hypothermia. Here, the patient can take especially preventive measures. Those affected should get used to always studying the weather forecast and, as a precaution, always keep a scarf and a warm jacket in the office or in the car.

Even a dry pair of shoes should always be within reach. When the outside temperature drops to the minus range, thermo clothing is helpful. After an acute cold exposure, if possible a hot drink, preferably tea, should be consumed. If possible, you should also take a hot bath.

Many patients also respond negatively to fatigue, stress and heavy exercise. In these cases, it is important that those affected have an orderly daily routine. Sport may only be moderately operated. Since stress can not always be avoided, relaxation techniques such as yoga or autogenic training should be learned.


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