Hermansky Pudlak Syndrome: Treatment, Cost and Side Effects

Hermansky Pudlak Syndrome is an autosomal recessive disorder that is very rare. The disorder later results in oculocutaneous albinism which is characterised by lack of skin pigmentation, accumulation of ceroid lipofuscin which is an abnormal fat protein and visual impairment. Some other symptoms affecting such patients are colitis, blood platelet dysfunction causing prolonged bleeding and lung fibrosis. The common signs and symptoms of Hermansky Pudlak Syndrome are bleeding gums, easy bruising, too much bleeding after surgery and nose bleeds. The skin, eyes and hair color is very pale. The prolonged bleeding problem also causes excessive bleeding in women during their menstrual cycle. The condition is caused due to mutation in genes. The mutation basically occurs in 10 genes that are: AP3B1, HPS1, HPS3, HPS4, HPS5, HPS6, AP3D1, PLDN, BLOC1S3 and DTNBP1. Oculocutaneous albinism causes crossed eyes, abnormal eye movements, near-sightedness and sensitivity to light. The disorder also increases the susceptibility to blood cancer and several infections. There is no complete cure for the disorder as it is caused due to a mutation of gene. Therapies that are used for treatment of Hermansky Pudlak Syndrome are basically aimed at reducing the symptoms. The treatment only aims at relieving the symptoms like controlling bleeding with medication, avoiding certain medications that promote blood coagulation.

Due to the disorder the person lacks the appropriate amount of skin pigment, melanin thereby making the skin and hair look pale. Lack of melanin also causes defects in eyes wherein the eyes are sensitive to light and get a condition called photophobia, nystagmus which is characterised by involuntary eye movements and strabismus that represents crossed eyes. Due to Hermansky Pudlak Syndrome vision is also impaired. These impairments and bleeding and cell storage disorders cannot be treated completely to give the autosomal recessive carrier a normal life. There are treatments available which aim only to ease the symptoms. It is important to carry out an ophthalmic evaluation to confirm the presence of this disease in the patient. Astigmatism and amblyopia can be corrected sing eyeglasses. Any surgical procedure is quite risky to carry out in such a patient. So, before undergoing any surgery the patient and respective family must discuss regarding the surgery with the doctor or the surgeon. A drug called desmopressin is used to maintain hemostasis in the body of the patients. Excessive bleeding during menstruation in women can be controlled using oral contraceptives. Affected patients must not take anticoagulants like aspirin. A few types of the disorder, such as HPS 1,2 and 4 cause pulmonary fibrosis to develop. In such cases a lung transplant may be required.

Any person who is affected by this autosomal recessive disorder and gets affecte by the symptoms of the disorder will be eligible for the treatment.

Every person with less amount of melanin in skin and hair will not be eligible for the treatment.

No, there are not very serious side effects of the treatment.

Post treatment guidelines for the treatment will include having food rich in vitamins and minerals, protecting the skin from harmful sun rays, protecting eyes by wearing sunglasses.

This disorder can never be cured with any treatment.

The price of treatment for the symptoms of this disorder may range from Rs. 500 to Rs. 15,000.

No, the results are not permanent.

alternatives to the treatment are simply to have healthy food, protect the skin and eyes from harmful effect of sun rays.