Hermansky-Pudlak syndrome is a hereditary disease that occurs very rarely. The disorder is also referred to by the abbreviation HPS in numerous cases. Hermansky-Pudlak syndrome is characterized by the fact that affected individuals mainly suffer from typical disorders and abnormalities of the skin.
What is Hermansky-Pudlak syndrome?
Basically, Hermansky-Pudlak syndrome represents a disease that occurs with a very low frequency in the population. For this reason, reliable data on the disease and its epidemiology are scarce at this time. All that is known is that the disease occurs sporadically throughout the world. There is a geographical peculiarity in the occurrence of the disease. Hermansky-Pudlak syndrome occurs more frequently in the northwest of Puerto Rico. The reasons for this are currently largely unclear. In this location, 400 people have been registered over time as suffering or having suffered from Hermansky-Pudlak syndrome. Thus, 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, in the course of the disease the substance ceroid is deposited in the so-called melanocytes, lysosomes as well as serotonin granules within the platelets. Hermansky-Pudlak syndrome was first described in 1959 by Pudlak and Hermansky. To honor these authors, the disorder was given the name Hermansky-Pudlak syndrome.
Causes
Hermansky-Pudlak syndrome and its development are characterized by the interaction of several factors. Relevant for the formation of the disease are initially the lysosomes and vesicles related to them. 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 complaints and symptoms of Hermansky-Pudlak syndrome. In particular, defective functions of these substances play an important role in the development of the disease. The typical albinism in the context of Hermansky-Pudlak syndrome is due to an incorrect synthesis of melanin. The melanin is formed in the melanosomes. The bleeding tendency is the consequence of the fact that in case of bleeding the so-called platelets do not stick together and form clumps. Under normal circumstances, bleeding is stopped in this way. Serotonin granules also play an important role in this process. Finally, fibrosis of the lung is due to specific defects within the so-called alveolar cells.
Symptoms, complaints, and signs
Hermansky-Pudlak syndrome is characterized by a number of signs and symptoms that provide clues to the disease. Individual symptoms vary in intensity and severity depending on the case. Some symptoms may be more pronounced than others. Particularly typical of Hermansky-Pudlak syndrome is albinism, which appears on the skin of affected individuals. Albinism may also occur on the conjunctiva. In addition, patients affected with Hermansky-Pudlak syndrome usually suffer from pulmonary fibrosis and an increased tendency to bleed.
Diagnosis and course
As part of the diagnosis of Hermansky-Pudlak syndrome, it is first essential to take a medical history. In this process, the attending physician asks the patient in conversation about past illnesses, characteristics of the personal lifestyle, and any genetic dispositions. In this way, the physician obtains 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 Hermansky-Pudlak syndrome substantiate the suspicion of the presence of the disease. In particular, the hypopigmentation of skin and hair points to the disease. There is also the possibility of performing various genetic tests. Changes on certain genes lead to the development of Hermansky-Pudlak syndrome. Such a gene is probably also responsible for the clustered occurrence of the disease in Puerto Rico and can be detected by laboratory testing.
Complications
As a result of Hermansky-Pudlak syndrome, the patient’s various skin areas are primarily affected.However, the actual symptoms and complications differ in all patients, which is why no general prediction is possible in this case. However, in many cases albinism occurs due to Hermansky-Pudlak syndrome. This usually 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 leads to an increased bleeding tendency. Even very minor injuries can cause severe bleeding and the risk of internal bleeding is increased. In the worst case, the patient suffers from blood loss and the associated symptoms. Not infrequently, Hermansky-Pudlak syndrome also has a negative effect on the patient’s psyche. In many cases, there is decreased self-esteem and further inferiority complexes. These complaints can usually be treated by a psychologist without complications. There is no direct treatment for Hermansky-Pudlak syndrome. In most cases, vaccinations are given to prevent inflammation. Life expectancy is not affected or decreased by Hermansky-Pudlak syndrome.
When should you see a doctor?
Patients who have albinism should have it evaluated by a physician immediately. In most cases, Hermansky-Pudlak syndrome is noticed immediately after birth and treated right away. In less severe cases, the sufferer must have the symptoms clarified himself. The typical symptoms, which in any case require medical diagnosis and treatment, include not only the conspicuous skin changes but also an increased tendency to bleed and pulmonary fibrosis. Pulmonary fibrosis is manifested, among other things, by shortness of breath, shortness of breath and irritable cough. If these symptoms occur and do not subside on their own after one week at the latest, medical advice is required. If there are further signs of a serious illness, it is best to talk to the family doctor immediately. If the symptoms are severe, an emergency doctor should be called or the affected person must be taken quickly to the nearest hospital. 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 appropriate contact.
Treatment and therapy
With regard to the treatment of Hermansky-Pudlak syndrome, it should be noted that no causal therapeutic methods exist at the current time. Various studies indicate that even glucocorticoids do not significantly affect the prognosis and progression of the disease. For this reason, only the possibility of symptomatic therapy of Hermansky-Pudlak syndrome exists. Pulmonary fibrosis may be positively influenced by abstaining from smoking. In order to avoid further complications or to reduce their probability, appropriate vaccinations are recommended, for example against inflammation of the lungs. Vaccination against pneumococcus and influenza viruses is also performed by many physicians. It is important for the patient to contact a physician as soon as possible if Hermansky-Pudlak syndrome is suspected.
Prevention
At the present time, there are no known effective measures or ways to effectively prevent the development of Hermansky-Pudlak syndrome. This is primarily due to the fact that the disease is a genetic disorder. For this reason, it is not possible to influence the causes. It is much more important to diagnose Hermansky-Pudlak syndrome quickly, to distinguish it from other diseases and to start a suitable therapy. In this way, the quality of life of affected patients can be increased and the prognosis of Hermansky-Pudlak syndrome can be positively influenced.
Follow-up
Since Hermansky-Pudlak syndrome is a hereditary disease, the measures or options for aftercare are very limited in this case. Affected individuals should always undergo genetic testing and counseling if they wish to have children, so that the syndrome does not recur in their children. In general, patients rely on lifelong therapy to alleviate symptoms, although a complete cure cannot be achieved. In this regard, Hermansky-Pudlak syndrome is usually treated by taking medication.When taking this medication, always ensure that the dosage is correct, and of course follow the doctor’s instructions. In children, especially the parents must pay attention to the correct and regular intake of medication. Likewise, various vaccinations should be given to prevent the development of diseases or infections. Since Hermansky-Pudlak syndrome can cause severe complications, parents should contact a doctor at the first symptoms or signs of the disease. Those affected often need the help and support of their own family in their lives. In this context, loving and intensive conversations are also important to prevent psychological upsets or depression.
This is what you can do yourself
With Hermansky-Pudlak syndrome, patients unfortunately have very few options for self-treatment. Because most affected individuals suffer from an increased tendency to bleed, any injuries or dangerous work must be avoided. This avoids complications due to high blood loss. Even during surgical procedures or ordinary visits to the doctor, the doctor should always be informed that the affected person suffers from Hermansky-Pudlak syndrome. If the affected person suffers from albinism or any other pigment disorder, this itself cannot be treated directly. However, psychological complaints or inferiority complexes can be eliminated by talking to other affected persons or by the support of friends and relatives. Especially the own partner can support the patient. Furthermore, various vaccinations can also alleviate the symptoms of the syndrome, so that, for example, inflammations in the lungs can be avoided. Those affected should carry out any protective vaccinations to protect themselves against various pathogens. Since the syndrome can also lead to pulmonary fibrosis, smoking should be avoided at all costs. This may also increase the patient’s life expectancy.
