Heerfordt-Mylius syndrome is a form of sarcoidosis and thus a granulomatous and immunologic inflammation that primarily affects the cranial nerves. As a rule, the symptoms regress spontaneously. Only if the disease progresses into a chronic course is permanent medication with immunosuppressants indicated.
What is Heerfordt-Mylius syndrome?
Patients with Heerfordt-Mylius syndrome suffer from a special form of sarcoidosis. This is a granulomatous inflammation that can be subchronic to chronic in extent. Sarcoidosis is often referred to as an inflammatory multisystem disease that forms small nodules in various organs, triggering an above-average immune response with inflammatory reactions. The lungs are most commonly affected by inflammation. The hilar lymph nodes become inflamed in about 95 percent of cases. In principle, sarcoidosis can cause inflammation in any organ system. In the special form of Heerfordt-Mylius syndrome, inflammation of the cranial nerves and the connective tissue layers in the central nervous system are most common. Christian Frederick Heerfordt first described Heerfordt-Mylius syndrome in 1906, with Jonathan Hutchinson documenting sarcoidosis for the first time shortly before. The syndrome can be summarized as a type of neurosarcoidosis. The onset of disease is between the ages of 20 and 40.
Causes
As for all other forms of sarcoidosis, the causes of Heerfordt-Mylius syndrome have been largely unclear. Because familial clustering has been observed, scientists currently sometimes assume genetic factors for the onset of the disease. Involvement of environmental toxins has also not been ruled out so far. The genetic level was proven in 2005 by gene abnormalities in patients with sarcoidosis. These abnormalities are mutations that appear to influence the onset of the disease. The mutation of only one base pair can increase the probability of disease onset by up to 60 percent in the gene BTNL2 on chromosome six, according to current research. This gene influences immunological inflammatory reactions and activates specialized blood cells. If both base pairs on the chromosomes mutate, the risk for the disease increases even threefold. However, these results are vague and do not necessarily apply to special forms such as Heerfordt-Mylius syndrome.
Symptoms, complaints, and signs
Heerfordt-Mylius syndrome is characterized by five leading symptoms. These leading symptoms include, for example, a reduction in salivary secretion by about half. Extreme dry mouth with difficulty swallowing and speech disorders sets in. This form of hyposalivation is also known as xerostomia. In addition, uveitis is usually present. The middle skin of the eyes is affected by inflammation. A foreign body sensation is present and lacrimation is increased. Patients also frequently suffer from parotitis, which is inflammation of the parotid glands. Facial paralysis may also occur, usually caused by inflammation of the seventh cranial nerve. The inflammatory reactions are accompanied by relapsing fever. Often, other cranial nerves are affected by inflammatory reactions. Apart from that, nodular inflammations may form in the meninges (brain lining). Nodular inflammation also sometimes develops in the mammary and gonadal glands, but these are not considered leading symptoms for Heerfordt-Mylius syndrome.
Diagnosis and course
As with all other sarcoidoses, the diagnosis is made for Heerfordt-Mylius syndrome depending on the particular symptoms of the condition. Before Heerfordt-Mylius syndrome is diagnosed, patients usually have already been diagnosed with sarcoidosis. Usually, a CT scan is used as an imaging procedure for this purpose. Based on this imaging, the stage of the disease can be determined. The prognosis is favorable to very favorable in Heerfordt-Mylius syndrome. As a rule, the inflammations regress through spontaneous remissions. Only in rare cases does the disease progress to a chronic course. It almost never progresses into a chronic progressive course in which remission no longer occurs between relapses.
Complications
Heerfordt-Mylius syndrome does not require treatment in many cases.The symptoms often disappear spontaneously and usually do not recur. However, a chronic course of the disease can also lead to complications. The affected person suffers from speech disorders and dryness in the mouth. Swallowing difficulties also occur, so that food and liquids cannot be absorbed easily. This can lead to dehydration or malnutrition. It is not uncommon for speech disorders to lead to bullying or teasing, especially in children. Psychological complaints and depression can develop from this. Furthermore, paralysis of various parts of the face and low resilience of the patient occur. The affected person often develops fever and inflammation of the meninges. These can be life-threatening for the patient. The symptoms of Heerfordt-Mylius syndrome can be treated and limited. However, it cannot be predicted whether all symptoms can be completely limited. Speech disorders can be treated and corrected in therapies. Treatment usually does not cause further complications or discomfort.
When should you see a doctor?
Because Heerfordt-Mylius syndrome can also irreversibly damage cranial nerves, the syndrome should always be evaluated by a doctor. In most cases, the syndrome resolves on its own, but an examination is still advisable. A physician should be consulted if the affected person suffers from severe dry mouth. In this case, the patient lacks spit and experiences speech disorders or difficulty swallowing. Furthermore, Heerfordt-Mylius syndrome also leads to a foreign body sensation in the eye, although there is clearly no foreign body in the eye. In this case, too, a medical examination is advisable. In addition, paralysis in various areas of the face may also indicate Heerfordt-Mylius syndrome. A doctor should be consulted immediately, especially if these paralyses persist for a long time. The syndrome can be diagnosed in a hospital or by a general practitioner. Treatment involves the use of various medications.
Treatment and therapy
Treatment of patients with Heerfordt-Mylius syndrome depends on the symptoms and the stage of the disease. The course of the disease is also sometimes crucial. Thus, symptoms are treated symptomatically and are based on the organ system affected. As a rule, acute attacks are treated with corticosteroids, especially glucocorticoids such as cortisol. The aim of the treatment is to inhibit the immune system. Only in rare cases do patients receive long-term therapy with immunosuppressants. Such permanent medication is only necessary in chronic forms of the disease, since the permanent inhibition of the immune system can delay relapses. Because an inhibited immune system is also associated with risks, the benefits and risks of medication are weighed up for each individual case. If the inflammation of various cranial nerves causes signs of paralysis or speech disorders and swallowing difficulties, the patient is also given speech therapy or movement therapy. However, paralysis symptoms in the face can also regress spontaneously. This is especially true if the inflammation heals after a short time and thus hardly any nerve tissue is destroyed. For persistent hyposalivation, the patient can be given saliva substitutes that protect the oral cavity from secondary diseases such as caries.
Outlook and prognosis
As a special form of sarcoidosis, Heerfordt-Mylius syndrome has a good prognosis. The course is chronic to subchronic. There is a relatively high spontaneous cure rate, ranging from 20 to 70 percent. Young people between 20 and 40 years of age are particularly affected. Furthermore, it has also been found that more African Americans than the light-skinned population suffer from this syndrome. However, only about five percent of all sarcoidosis patients suffer from Heerfordt-Mylius syndrome. The special feature of this form of sarcoidosis is the frequent occurrence of neurological symptoms due to cranial nerve failures. This leads to facial paralysis, which is associated with typical changes in facial expression such as drooping corners of the mouth or incomplete closure of the eyelids. Taste disorders may also occur. Cranial nerve deficits, in turn, occur in about 50 to 70 percent of all people affected with Heerfordt-Mylius syndrome.Furthermore, the iris, parotid gland and oral mucosa are inflamed. The mortality rate in sarcoidosis is about five percent, mainly due to lung dysfunction. However, this is true for all forms of the disease. How high the lethality is specifically in Heerfordt-Mylius syndrome has not yet been verified. Iris can become a hazard to vision, as complications such as cataract or vitreous opacities can occur. The heart, skin, joints, gastrointestinal tract, nerves and upper airways should also be constantly monitored. This is because the course of the disease is highly variable.
Prevention
Because Heerfordt-Mylius syndrome is thought to be caused by a combination of genetic predisposition and environmental toxins, the disease cannot be prevented.
Follow-up
In most cases, very few aftercare measures are available to the affected person with Heerfordt-Mylius syndrome. First and foremost, an early diagnosis must be made so that further complications can be prevented. Only early diagnosis with subsequent treatment of the disease can also prevent further deterioration of the symptoms. It is also not possible for Heerfordt-Mylius syndrome to heal on its own. With this disease, the affected person is usually dependent on taking medication. In case of any uncertainties or questions, a doctor should always be consulted first. Furthermore, the affected person should pay attention to a regular intake and also to a correct dosage in order to alleviate the symptoms. Since the disease can also cause swallowing difficulties or speech problems, some Heerfordt-Mylius syndrome patients rely on special therapy to counteract these complaints. Some exercises from these therapies can also be performed in the patient’s own home to speed healing. Likewise, good hygiene of the oral cavity is important to prevent disease. It cannot be universally predicted whether Heerfordt-Mylius syndrome will result in a reduced life expectancy for the affected person.
Here’s what you can do yourself
Self-help options are relatively limited in Heerfordt-Mylius syndrome, so sufferers rely primarily on medical treatment to relieve symptoms. In the case of a chronic course, the intake of medication is permanently necessary. Since Heerfordt-Mylius syndrome often leads to speech difficulties, the affected person can counteract the speech disorders through various therapies. The exercises can usually be performed at home. Furthermore, the affected person should also pay attention to a healthy diet and regular drinking despite the swallowing difficulties in order to avoid dehydration or deficiency symptoms. Caries also occurs frequently in sufferers due to the syndrome, so regular check-ups with a dentist can prevent these complications. Especially in children, parents should pay attention to regular medical checkups. If the patient also suffers from facial paralysis, the support of friends and relatives is often necessary in this case to make the life of the affected person more comfortable. Talks with a psychologist or with familiar people can also help with psychological complaints.
