Hermansky-Pudlak syndrome is a hereditary disease that is very rare. The disease is often referred to by the abbreviation HPS. The Hermansky-Pudlak syndrome is characterized by the fact that the affected persons mainly suffer from typical disorders and abnormalities of the skin.

What is Hermansky-Pudlak syndrome?

No direct treatment of Hermansky-Pudlak syndrome is possible. In most cases, vaccinations are made to prevent inflammation.
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Basically, the Hermansky-Pudlak syndrome is a disease that occurs only with a very low frequency in the population. For this reason, hardly any reliable data on the disease and its epidemiology are available at the present time. So far, it is only known that the disease occurs sporadically all over the world.

There is a geographical particularity in the occurrence of the disease. The Hermansky-Pudlak syndrome is more common in northern Puerto Rico. The reasons for this are currently largely unclear. Over 400 people who suffer or have suffered from the Hermansky-Pudlak syndrome have been registered at this location over time.

Thus, the disease in this region has a frequency of 1: 8, 000. Corresponding data on the frequency of Hermansky-Pudlak syndrome are not yet available for German-speaking countries. Basically, in the context of the disease, the substance Ceroid deposits in the so-called melanocytes, lysosomes and serotonin granules within the platelets.

Hermansky-Pudlak syndrome was first described in 1959 by Pudlak and Hermansky. To honor these authors, the disease was named Hermansky-Pudlak syndrome.

causes

The Hermansky-Pudlak syndrome and its emergence are characterized by the interaction of several factors. Relevant for the formation of the disease are first the lysosomes and their related vesicles. At the beginning of development, these two substances undergo similar processes.

These substances include various organelles, for example granules, serotonin granules or lysosomes. These vesicles and lysosomes are responsible for the typical symptoms and symptoms of Hermansky-Pudlak syndrome. In particular, faulty functions of these substances play an important role in the development of the disease.

The typical Albinismus in the context of the Hermansky Pudlak syndrome is due to an incorrect synthesis of melanin. The formation of melanin occurs in the melanosomes. The bleeding tendency is the result of the fact that in the case of bleeding the so-called platelets do not stick together and form lumps.

Under normal circumstances, the bleeding is stopped in this way. Serotonin granules also play an important role in this process. Finally, lung fibrosis is caused by special defects within the so-called alveolar cells.

Symptoms, complaints & signs

Hermansky-Pudlak syndrome is characterized by a number of signs and symptoms that indicate the disease. Individual symptoms vary in intensity and severity depending on the individual case. Some symptoms may be more pronounced than others.

Particularly typical of the Hermansky-Pudlak syndrome is an albinism, which manifests itself on the skin of the affected persons. Albinism may also occur on the conjunctiva. In addition, patients suffering from Hermansky-Pudlak syndrome usually suffer from pulmonary fibrosis and an increased tendency to bleed.

Diagnosis & History

In the context of the diagnosis of Hermansky-Pudlak syndrome, it is first necessary to take a medical history. The attending physician asks the patient in conversation about past illnesses, characteristics of the personal lifestyle as well as possible genetic dispositions. In this way, the doctor receives relevant information that helps him in the diagnosis.

In addition, the clinical appearance plays an important role in the diagnosis. The characteristic symptoms of Hermansky-Pudlak syndrome support the suspicion of the presence of the disease. In particular, the hypopigmentation of skin and hair indicates the disease.

It is also possible to perform various genetic tests. Changes on certain genes lead to the development of the Hermansky-Pudlak syndrome. Such a gene is believed to be responsible for the increased incidence of the disease in Puerto Rico and can be located through a laboratory examination.

complications

The Hermansky-Pudlak syndrome mainly affects the different skin areas of the patient. However, the actual symptoms and complications are different in all patients, so no general prognosis in this case is possible. However, in many cases albinism occurs due to the Hermansky-Pudlak syndrome.

This usually has no particular negative impact on the body of the patient and must not be associated with health hazards. However, in some cases albinism causes an increased tendency to bleed. Even very slight injuries can cause severe bleeding and increase the risk of internal bleeding. In the worst case, the patient suffers from a loss of blood and the associated symptoms.

Not infrequently, the Hermansky-Pudlak syndrome also has a negative effect on the patient's psyche. In many cases, self-esteem and reduced inferiority complexes are reduced. These complaints can usually be treated without complications to a psychologist.

No direct treatment of Hermansky-Pudlak syndrome is possible. In most cases, vaccinations are made to prevent inflammation. Life expectancy is not affected or reduced by the Hermansky-Pudlak syndrome.

When should you go to the doctor?

Patients suffering from albinism should seek the advice of a doctor immediately. Mostly the Hermansky-Pudlak syndrome is noticed immediately after birth and treated directly. In less severe cases, the patient must have the complaints cleared up. The typical symptoms, which in any case require a medical diagnosis and treatment, include not only the abnormal skin changes but also an increased tendency to bleed and pulmonary fibrosis.

Pulmonary fibrosis manifests itself among other things by shortness of breath, shortness of breath and irritating cough. If these symptoms occur and do not return after one week at the latest, medical advice is required. If further signs of serious illness are added, it is best to speak immediately to the family doctor.

In case of severe complaints, an emergency doctor should be called or the person affected must be brought quickly to the nearest clinic. In addition to the family doctor can also be a specialist in skin diseases or a specialized clinic for hereditary diseases to be visited. In case of doubt, the emergency medical service is the appropriate contact person.

Treatment & Therapy

With regard to the treatment of the Hermansky-Pudlak syndrome, it should be noted that no causal therapy methods exist at the present time. Various studies indicate that glucocorticoids also do not significantly affect the prognosis and progression of the disease. For this reason, there is only the possibility of symptomatic therapy of Hermansky-Pudlak syndrome.

Pulmonary fibrosis may be positively affected by abstinence from smoking. In order to avoid further complications or to reduce their likelihood, appropriate vaccinations are recommended, for example against inflammation of the lungs.

A vaccination against pneumococci and influenza viruses is also carried out by many doctors. It is important that the patient turns to a doctor as soon as possible in case of suspected Hermansky-Pudlak syndrome.

prevention

At the present time, no effective measures and possibilities for the effective prevention of the development of the Hermansky-Pudlak syndrome are known. This is primarily due to the fact that the disease is a genetic disorder. For this reason, influencing the causes is not possible.

It is much more important, if Hermansky-Pudlak syndrome is present, to quickly diagnose the disease, differentiate it from other diseases and then start a suitable therapy. In this way, the quality of life of the affected patients can be increased and the prognosis of Hermanusky-Pudlak syndrome can be positively influenced.

aftercare

Since the Hermansky-Pudlak syndrome is a hereditary disease, the measures or the possibilities of follow-up are very severely limited. The affected person should always carry out a genetic examination and counseling if they wish to have children so that the syndrome does not reappear in the children. In general, patients need lifelong therapy to relieve the symptoms, but full cure can not be achieved.

The Hermansky-Pudlak syndrome is usually treated by taking medication. When taking this medicine, always make sure that the dosage is correct, following the doctor's instructions. For children, especially the parents must pay attention to the correct and regular use of the drugs.

Also, various vaccinations should be done so that it does not come to illnesses or infections. Since Hermansky-Pudlak syndrome can cause serious complications, parents should consult a doctor at the very first symptoms or signs of the disease. Those affected often need the help and support of their own family in their lives. Loving and intensive conversations are also important to prevent mental upsets or depression.

You can do that yourself

In the case of the Hermansky-Pudlak syndrome, unfortunately, the patient has very few options for self-treatment. Since most sufferers have an increased tendency to bleed, any injuries or hazardous work must be avoided.

This avoids complications of high blood loss. Also, during surgical procedures or ordinary visits to the doctor, the doctor should always be advised that the person suffering from the Hermansky-Pudlak syndrome.

If the person affected suffers from albinism or other pigmentation disorder, it can not be treated directly. However, psychological complaints or inferiority complexes can be eliminated by talking to other people or by helping friends and relatives. Especially your own partner can support the patient.

Furthermore, various vaccinations can alleviate the symptoms of the syndrome, so that, for example, inflammation in the lungs are avoided. Patients should use any vaccine to protect themselves against various pathogens. Since the syndrome can also lead to pulmonary fibrosis, smoking should definitely be avoided. This can also increase the life expectancy of the patient.

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