According to abbreviationfinder.org, Hermansky -Pudlak syndrome is a hereditary disease that occurs very rarely. In many cases, the disease is also referred to by the abbreviation HPS. The Hermansky-Pudlak syndrome is characterized by the fact that the people affected primarily suffer from typical skin disorders and abnormalities.
What is Hermansky-Pudlak Syndrome?
The Hermansky-Pudlak syndrome is a disease that occurs only with a very low frequency in the population. For this reason, there is currently little reliable data on the disease and its epidemiology. All that is known so far is that the disease occurs sporadically around the world.
There is a geographical peculiarity in the occurrence of the disease. Because the Hermansky-Pudlak syndrome is more common in the north-west of Puerto Rico. The reasons for this are currently largely unclear. Over time, 400 people suffering or suffering from Hermansky-Pudlak syndrome have been registered in this place.
This means that the disease has a frequency of 1:8,000 in this region. Corresponding data on the frequency of Hermansky-Pudlak syndrome are not yet available for German-speaking countries. Basically, as part of the disease, the substance ceroid is deposited in the so-called melanocytes, lysosomes and serotonin granules within the thrombocytes.
The Hermansky-Pudlak syndrome was first described by Pudlak and Hermansky in 1959. In honor of these authors, the disease was named Hermansky-Pudlak syndrome.
Causes
The Hermansky-Pudlak syndrome and its development are characterized by the interaction of several factors. The lysosomes and their related vesicles are primarily relevant for the formation of the disease. At the beginning of development, these two substances go through similar processes.
These substances include various organelles, for example granules, serotonin granules or lysosomes. These vesicles and lysosomes are responsible for the typical signs and symptoms of Hermansky-Pudlak syndrome. Above all, defective functions of these substances play an important role in the development of the disease.
The typical albinism in Hermansky-Pudlak syndrome is due to incorrect synthesis of melanin. Melanin is formed in the melanosomes. The tendency to bleed is the result of the so-called thrombocytes not sticking together and forming clumps in the event of bleeding.
Under normal circumstances, this will stop the bleeding. The serotonin granules also play an important role in this process. Finally, the fibrosis of the lungs is caused by special defects within the so-called alveolar cells.
Symptoms, Ailments & Signs
Hermansky-Pudlak syndrome is characterized by a number of signs and symptoms that are indicative of the condition. The individual symptoms vary in intensity and severity depending on the individual case. Some symptoms may be more pronounced than others.
Albinism, which shows up on the skin of the affected person, is particularly typical of the Hermansky-Pudlak syndrome. Albinism can 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
As part of the diagnosis of Hermansky-Pudlak syndrome, it is first essential to take a medical history. The doctor treating the patient asks the patient about past illnesses, characteristics of their personal lifestyle and any genetic dispositions. In this way, the doctor receives relevant information that helps him to make the diagnosis.
In addition, the clinical appearance plays an important role in the diagnosis. The characteristic symptoms of the Hermansky-Pudlak syndrome strengthen the suspicion of the presence of the disease. In particular, hypopigmentation of the skin and hair indicates the disease.
It is also possible to carry out various genetic tests. Changes in certain genes lead to the development of Hermansky-Pudlak syndrome. Such a gene is probably also responsible for the frequent occurrence of the disease in Puerto Rico and can be identified with a laboratory test.
Complications
The Hermansky-Pudlak syndrome mainly affects the different skin areas of the patient. However, the actual symptoms and complications differ in all patients, which is why no general prediction is possible in this case. However, the Hermansky-Pudlak syndrome causes albinism in many cases.
As a rule, this has no particular negative effect on the patient’s body and does not have to be associated with health hazards. However, in some cases, albinism can lead to an increased tendency to bleed. Even very minor injuries can cause severe bleeding and the risk of internal bleeding increases. In the worst case, the patient suffers from blood loss and the associated symptoms.
It is not uncommon for Hermansky-Pudlak syndrome to have a negative effect on the patient’s psyche. In many cases, there is a reduced sense of self-esteem and further inferiority complexes. These complaints can usually be treated by a psychologist without complications.
There is no direct treatment of Hermansky-Pudlak syndrome. In most cases, vaccinations are given to prevent infections. Life expectancy is not affected or reduced by Hermansky-Pudlak syndrome.
When should you go to the doctor?
Patients suffering from albinism should seek immediate medical attention. Hermansky-Pudlak syndrome is usually noticed immediately after birth and treated immediately. In less severe cases, the patient must have the symptoms clarified themselves. The typical symptoms, which definitely require a medical diagnosis and treatment, include noticeable skin changes, an increased tendency to bleed and pulmonary fibrosis.
Pulmonary fibrosis is manifested by shortness of breath, shortness of breath and a dry cough, among other things. If these symptoms occur and do not go away on their own after a week at the latest, medical advice is required. If there are other signs of a serious illness, it is best to speak to your family doctor immediately.
If the symptoms are severe, an ambulance should be called or the person concerned must be taken to the nearest clinic as soon as possible. In addition to the family doctor, a specialist in skin diseases or a specialized clinic for hereditary diseases can also be consulted. In case of doubt, the medical emergency service is the right contact person.
Treatment & Therapy
With regard to the treatment of Hermansky-Pudlak syndrome, it should be noted that no causal therapy methods currently exist. Various studies indicate that glucocorticoids do not significantly affect the prognosis and progression of the disease. For this reason, there is only the possibility of a symptomatic therapy of the Hermansky-Pudlak syndrome.
Pulmonary fibrosis may be positively influenced by not smoking. In order to avoid further complications or to reduce their probability, appropriate vaccinations are recommended, for example against inflammation of the lungs.
Many doctors also carry out vaccinations against pneumococci and influenza viruses. It is important that if the patient suspects Hermansky-Pudlak syndrome, he should contact a doctor as soon as possible.
Prevention
At the present time, no effective measures and options for effective prevention against the development of Hermansky-Pudlak syndrome are known. This is primarily due to the fact that the condition is a genetic disorder. For this reason, it is not possible to influence the causes.
If Hermansky-Pudlak syndrome is present, it is much more important to diagnose the disease quickly, to differentiate it from other diseases and then to start a suitable therapy. In this way, the quality of life of the affected patients can be increased and the prognosis of the Hermansky-Pudlak syndrome can be positively influenced.
Aftercare
Since Hermansky-Pudlak syndrome is a hereditary disease, the measures or options for aftercare are very limited. The person concerned should always carry out a genetic examination and counseling if they wish to have children, so that the syndrome does not recur in the children. In general, patients require lifelong therapy to relieve symptoms, but full recovery cannot be achieved.
The Hermansky-Pudlak syndrome is usually treated by taking medication. With this intake, it is always important to ensure that the dosage is correct, and of course the doctor’s instructions must be followed. In the case of children, it is above all the parents who must ensure that the medication is taken correctly and regularly.
Various vaccinations should also be carried out so that diseases or infections do not occur. Because Hermansky-Pudlak Syndrome can lead to serious complications, parents should consult a doctor at the first symptoms or signs of the disease. Those affected often need the help and support of their own families throughout their lives. Loving and intensive conversations are also important in order to prevent mental upsets or depression.
You can do that yourself
Unfortunately, patients with Hermansky-Pudlak syndrome have very few options for self-treatment. Since most of those affected suffer from an increased tendency to bleed, any injuries or hazardous work must be avoided.
This avoids complications due to high blood loss. Even in the case of surgical interventions or ordinary visits to the doctor, the doctor should always be informed that the person affected suffers from Hermansky-Pudlak syndrome.
If the person concerned suffers from albinism or another pigment disorder, this cannot be treated directly. However, mental health problems or inferiority complexes can be resolved by talking to others who are affected or by getting support from friends and family. Above all, one’s own partner can support the patient.
Various vaccinations can also alleviate the symptoms of the syndrome, so that inflammation in the lungs can be avoided, for example. Those affected should carry out any vaccinations 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.
