An Overview of Hermansky Pudlak Syndrome

In This Article

Table of Contents

Hermansky Pudlak syndrome is a genetic condition causing abnormally lightened pigmentation of the body (oculocutaneous albinism) and bleeding problems. It affects the hair, skin, and eyes while placing individuals at an increased risk for damage to these body parts due to sun exposure. It is a rare disorder affecting approximately 1 in 500,000 to 1,000,000 individuals across the world.

Hermansky Pudlak syndrome often causes other medical problems which may be worsened if the condition is serious enough and if the individual does not engage in prevention efforts. There are nine types of Hermansky Pudlak syndrome, each of which has varying severity and associated medical complications. Certain types are more common in certain geographic locations. Types 1 and 3 are more common in Puerto Rico where incidence is 1 in 1,800 individuals.

Symptoms

Symptoms of Hermansky Pudlak syndrome include abnormally lightened skin, hair, and eyes. This is also known as partial albinism in the majority of individuals with Hermansky Pudlak syndrome.

Two of the leading symptoms which set Hermansky Pudlak syndrome apart from oculocutaneous albinism are platelet dysfunction and bleeding disorders. These symptoms cause more severe issues in 80-99% of individuals with Hermansky Pudlak syndrome, including decreased immune function, low white blood cell count, excessive bleeding and/or bruising, and vision issues.

An impaired immune system has the potential to cause illness or injury after which the body will have difficulty recovering. Vision issues include involuntary eye movements which make sight more difficult. Excessive bleeding and/or bruising often leads women with Hermansky Pudlak syndrome to experience an excessive and heavy menstrual flow.

Pulmonary fibrosis is seen in 30-79% of individuals with Hermansky Pudlak syndrome, and it may have dangerous effects if left unmanaged. Pulmonary fibrosis is a condition causing scarring and damage to lung tissue, leading to increasingly more episodes with shortness of breath.

Rarer symptoms of Hermansky Pudlak syndrome which affect vision include changes to the optic nerve, lazy eye (amblyopia), abnormal curvature of the eye’s lens (astigmatism), clouding of the eye’s lens (cataracts), cross-eyed (strabismus), nearsightedness (myopia), lack of pigmentation in the eyes (ocular albinism), extreme sensitivity to light (photophobia), and kidney failure.

Causes

Hermansky Pudlak syndrome is a genetic condition caused by gene mutations in protein-forming cells. These proteins are partially responsible for producing pigment, blood-clotting cells, and lung cells. Deficiencies in these proteins are what lead to medical issues such as low blood count, abnormal pigmentation, and scarring of lung tissue.

The HPS1 gene is primarily responsible for the development of Hermansky Pudlak Syndrome. However, the HPS3 gene also leads individuals in certain geographic locations to develop this condition. Despite research pointing toward gene mutations which cause this condition, the genetic cause of Hermansky Pudlak syndrome remains unknown for some individuals.

This condition is inherited. However, parents without Hermansky Pudlak syndrome may carry recessive genes causing their child or children to develop the condition. This means each parent carries a non-dominant, or recessive, gene for the condition.

Diagnosis

Hermansky Pudlak syndrome can be identified at a certain point during pregnancy through genetic testing. This allows for parents to determine whether they carry the genes for this condition and informs parents early on whether or not their child has inherited it.

Diagnosis of Hermansky Pudlak syndrome also consists of a thorough evaluation including medical history, physical examination, laboratory testing, and family history. Diagnosis later in life may be done by analyzing pigmentation changes and the appearance of blood cells under a microscope.

While the medical community has made great strides in early diagnosis and treatment of Hermansky Pudlak syndrome, rare conditions as a whole remain difficult to manage. Early intervention and adequate resources play an integral role in an individual with Hermansky Pudlak syndrome receiving the care they need.

Treatment

Typical treatments for someone with Hermansky Pudlak syndrome include blood transfusions for those who experience excessive bleeding, bruising, or fluctuating blood counts. Women who experience reproductive and menstrual condition associated with excessive bleeding may be treated using birth control medication to manage their menstrual cycles.

Individuals with Hermansky Pudlak syndrome who experience pulmonary fibrosis may require a lung transplant if their condition is severe enough. Many of the medical advances today are focused on treating the medical complications and life-threatening issues which may arise if left unaddressed. This is because many of the direct symptoms (such as vision difficulties due to pigmentation changes) are able to be managed through therapies and compensatory strategies.

Coping

Coping with medical complications is often the most difficult part of Hermansky Pudlak syndrome. Particularly, the most difficult issues to cope with are vision changes and emotional reactions toward a unique physical appearance.

An ophthalmologist specializes in the treatment of the eyes and is able to assist with vision changes and treatments. Additionally, occupational therapy is able to assist with strengthening visual skills, visual structures, and hand-eye coordination. These skills will improve an individual’s ability to read, write, and perform in a work or school environment. Such therapies will also improve an individual’s quality-of-life by addressing emotional responses to living with Hermansky Pudlak syndrome.

A Word From Verywell

Living with a rare genetic disorder is undoubtedly trying. However, early diagnosis is key for the prevention and management of often complex medical conditions. By using an individualized and person-centered approach, doctors and other medical professionals may ease the burden on someone living with Hermansky Pudlak syndrome. Speaking to your doctor is advised for any specific concerns related to your medical condition or emotional responses to your condition. Specialist medical providers are also able to inform care which is specific to medical complications resulting from Hermansky Pudlak syndrome.

Was this page helpful?

Article Sources