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What is Hermansky – Pudlak Syndrome – Symptoms, Causes, Diagnosis and Treatment

There are nearly 7,000 rare diseases and 25 million people in the United States have one. A disease is considered to be rare if fewer than 200,000 people in this country have it. One such rare ailment is Hermansky – Pudlak Syndrome. It is an autosomal recessive genetic disorder. It is inherited if two copies, one each from the parents of the defective genes, are passed on to an offspring. There is 25 percent change of such a possibility always. 50 percent of the carrier off-springs can pass this disorder to further generations without themselves showing any symptoms.

Hermansky – Pudlak Syndrome (HPS) Symptoms:

  • Lack of hair pigmentation
  • Lack of eye pigmentation
  • Lack of skin pigmentation
  • Sensitivity to light
  • Rapid and involuntary movements of eyes
  • Easy bruising
  • Mild bleeding
  • Hemorrhagic episodes
  • Restrictive lung disease
  • Nose bleeding
  • Formation of excess tissues in the lungs of mostly people belonging to the age group 40-50 years – pulmonary fibrosis
  • Ulcerative colitis
  • Defects in the platelets of the blood
  • Impaired vision
  • Kidney disease
  • Crossed eyes
  • Inflammatory bowel disease
  • Albinism

Formation of wax like substance called the ceroid in the tissues
Mutations in the genes HPS1, HPS3, HPS4, HPS5, HPS6, AP3B1, BLOC1S3 and DTNBP1 are responsible for this disease. There are nine types of it. While diagnosis of most of its types is a matter of research, the most common type is found detecting hypopigmentation of the skin and the hair, abnormalities in the blood platelets when observed under electron microscope and characteristic observations in eye movements.

Treatment: Purposeful execution of a chemical reaction is called synthesis. It is allowed to carry out inside the body to replace a hormone called vasopression, the process is known as desmopression. Along with Vitamin E therapy, the mentioned technique reduces the chronic hemorrhage condition associated with Hermansky-Pudlak syndrome.

Proper precautions prior to the process, during it and after conducting it should be taken as patients suffering from this syndrome are prone to easy bleeding. Eye surgeons should devise a strategy to tackle the complications of the eye. Prolonged bleeding has been observed in several cases of eye-surgeries meant to treat cross-eyes condition.

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