Hermansky-Pudlak Syndrome:
A Special Type of Albinism
A Brief Overview
Hermansky Pudlak Syndrome or HPS is a type of albinism known as
oculocutaneous albinism. The reason this type of albinism is different
from normal albinism is the reoccurring decreased or absences of vision in the affected individuals.
This type of albinism has been known to affect many different body
systems including the Circulatory, Respiratory, Integumentary, Nervous,
and Digestive systems in different ways. It can be categorized into 9
different types that range from severe to mild cases. It can affect
people all over the world, although it does affect one country more
than any other. Even though the cause of this disorder is known there is
currently no cure to it but only methods of treatment and prevention.
There has been a lot of progress and increasing awareness of this
disorder thanks to dedicated individuals and yearly gatherings to share
findings.
Symptoms of this Defect
Albinism
The type of albinism associated with this defect is known as
oculocutaneous albinism and it refers to the mutation and/or lack of
pigmentation in the skin, hair, and eyes. It causes the hairs on the
individual's body to become a much lighter shade, even to the point
in which they would appear to be white. The skin color of an individual
is also affected in which it would become a much lighter color and a
fair complexion. This fair complexion could affect the person's
sensitivity to sunlight in a way that would make them more vulnerable
to developing skin cancer. Some individuals claim that just having
the sun light hit their skin causes them to experience pain. The lack
of pigmentation in the affected individual's iris and retina causes them
to experience great discomfort or even pain when they spend too much time
in direct contact with light sources. The lack of pigmentation in the iris
can cause the color of the eyes to appear as a light blue or a dark brown
color.
Blindness
Due to the lack of pigmentation in the iris and retinas this causes
the affected to have reduced vision. In most cases the individual born
with HPS is completely blind at birth but some lucky persons are able
to develop increased vision. This increased vision is only compared to
being fully blind however, in most cases the developed vision only goes
to about 20/200 and 20/70 in prime lighting conditions. Those individuals
who develop vision usually also develop a nystagmus which is the rapid and
involuntary movement of the eyes. This makes focusing on a set point very difficult
for the affected person. In some accounts it is also claimed that the persons
peripheral vision is better than their immediate vision.
Bleeding Disorder
The most common form of
bleeding diathesis that these individuals
experience is known as hemophilia. This occurs when the affected persons
platelets fail to clump together in order to clot. Due to this failure
of blood coagulation these individuals bruise much easier and bleed
for prolonged periods of time. The reason the platelets fail to coagulate
is due to the absent or severely deficient dense granules count in platelets.
However, the alpha granule contingent is still normal, meaning that platelet
count is still normal. This type of bleeding diathesis is also common for
causing epistaxis (nosebleeds) in younger persons but eventually diminishes as they
grow into adolescence.
Pulmonary Fibrosis
Pulmonary fibrosis is characterized by the buildup of scar tissue in
the lungs and causes the affected persons to develop strained breathing due to decreased gas exchange
and eventual asphyxiation. This symptom doesn't usually present itself
until the individual reaches the age of about 30 but when it does appear
the person doesn't usually survive past the next decade. This type of
fibrosis is currently exclusive to individuals who are diagnosed with type
1, 2, and 4 HPS. The reason why most people with HPS don’t live more than
a decade with pulmonary fibrosis is due to their bleeding disorders
causing invasive surgeries to be extremely risky.
Other Less Common Symptoms
There has been recent studies that have concluded that, although rare,
HPS has also been the cause of inflammation of the large intestine
(granulomatous colitis). Colitis will cause the individual to have a history
of constant cramps, increased mucus in the stool, and rectal bleeding. This
condition is present in about 15% of individuals with HPS and will often
times be confused with Crohn's disease due to their similarities. Colitis
has usually only been reported by individuals with type 1 or 4 HPS. Even
more rare are the cases that report renal failure and different kinds of cardiomyopathy.
Other personal accounts report that HPS causes affected individuals to be
more susceptible to ADHD and depression.
Types of HPS
Types 1, 2, and 4
The most severe type of HPS that is associated with pulmonary fibrosis and
granulomatous colitis. Individuals characterized with these types of HPS exhibit
severe albinism such as the red eyes and white, fair hair and skin. They are more
likely to be completely blind and blood coagulation is severely slowed.
Types 3, 5, and 6
A more mild type of HPS that still shows the characteristics of albinism.
The hair and skin is just a lighter color, the person may not be completely blind,
and blood coagulation is slowed. Each individual's characteristics may vary but
the average person diagnosed with this type has symptoms less severe than type
1, 2, and 4. Pulmonary fibrosis is very uncommon in these types.
Types 7, 8, and 9
The most mild version of HPS that very lightly shows the characteristics of
typical albinism. The hair and skin are sometimes a lighter color, eye sight is
slightly worse, and blood coagulation is fairly slower than normal. Not much else
is actually known about these types due to their very mild symptoms.
Affected Areas Around the World
Worldwide
One of the reasons HPS is so unknown to a lot of people is the fact that it
it such a rare disorder. So rare in fact that only 1 in every 500,000 to 1,000,000
people have a chance of developing it. This statistic is true for the worldwide
population, although this isn't to say that only one child in a family could be
affected. Personal accounts prove that it is possible to have more than one child
in a family be affected but also for there to be children unaffected. Other affected
areas in the world internationally include India, Japan, UK, and Western Europe.
Puerto Rico
The area that is at risk the most is the Commonwealth of Puerto Rico where the
statistic anomaly includes 1 in every 1,800 individuals. There are areas here
that have been known to include more of one type of HPS than some other ones.
The northwestern region of Puerto Rico is known to include mostly individuals that have
been diagnosed with type 1 HPS. While the most common type of HPS found in the central
region of Puerto Rico is type 3 HPS.
Cause
Genetic
The reason people all over the world are affected by this disorder is due to
the mutation of one of nine genes. The type of HPS that an individual has is in
direct correlation to the affected gene. If the HPS1 gene is mutated then that person
has type 1 HPS. What the mutation affects is the production of a specific Lysosome
that performs many different functions throughout the body. These functions affected
include melanin production and distribution, platelet formation, and lung cell
formation. The lysosome that is affected produces and distributes melanin throughout
the body, so if that lysosome is mutated it may cause little to no melanin production
and distribution. Platelets in the blood are directly affected due to the mutation
of the specific lysosome thus causing little to no granulocytes that are used to clot
in platelets. This doesn't mean that the platelet count is lower, in fact platelet
count is relatively normal. A mutation in the specific lysosome can cause lung
cells to form incorrectly thus causing pulmonary fibrosis later in life. The mutation
of this lysosome is a cause of an autosomal recessive pattern. This means that the
two parents must carry this resessive gene and pass it down to their child.
Methods of Help
Treatments
Since there is no cure this disorder yet the affected people have to find
ways in order to adapt their everyday actions to make it their lives easier.
The vision impairment can't just simply be corrected by surgery or glasses.
The glasses may work for some people but for most it will only cause the wearer to
develop a headache and possibly eye pain. So in order for some to be able to
read papers and other forms of press they will learn how to read brail or buy a
glass half sphere. They will set the half sphere over the paper and it will magnify
the content of the paper. Other individuals will print out paper that is double
the normal size that way the text size is also doubled. Whenever a person is
bleeding uncontrollably they will press a thrombin-soaked gelfoam into the affected
area. If the individual will be going into surgery they will have to receive
platelet or red blood cell transfusions.
Prevention
The best form of treatment though is prevention and thankfully there are some simple ways
in which an affected individual can prevent an accident. In order for a person to
avoid developing skin tumors they are advised to wear very strong forms of sunscreen
of to avoid prolonged sun exposure. A way to let EMS personal and other people
know that the person has a severe bleeding disorder is to wear a medical alert
bracelet at all times that specifies the type of disorder and other sensitive
information. Simple immunizations for influenza and pneumonia are also advised
to avoid the risk of pulmonary fibrosis. Also simple regular exercise is a good
to keep the body healthy.
Surveillance and Detrimental Stimuli
Individuals with HPS are advised to keep constant surveillance over their
bodies in order to know when something isn't normal. They are advised to attend
annual visits to the doctor in order to check the eyes conditions. This is a simple
way to make sure that their sight isn't worsening. They are very highly advised to
perform at least yearly screenings of the skin in order to make sure that no
keratoses have formed on the skin. In order to make sure that the lungs are still
in good condition and working correctly the affected person is asked to attend
annual pulmonary function tests after they have reached the age of 20. Even siblings
of individuals who display type 3, 5, and 6 HPS should be checked for any significant
changes to their health because it is known that these people may still test
positive for HPS even though they don't display any of the symptoms. Stimuli to
avoid for people with HPS are aspirin-containing products and cigarette smoke.
The reason for the aspirin avoidance is the bleeding disorder and the cigarette
smoke is due to the prevention of developing pulmonary fibrosis earlier.
HPS Conference
There is an annual meeting in Long Island, New York for those families affected
by HPS. This conference began in 1993 with one woman by the name of Donna Appel who's
child was a victim of HPS. She wanted to raise awareness for this disorder so
she hosted a small gathering of friends and family members in her basement. This
small gathering has now developed into an international conference of many different
individuals affected by HPS and many doctors and researchers. The doctors and
researchers attend this conference and use it as a way to showcase any new
findings and share different ideas. The children who attend this event are treated
to many different activities, such as a parade and a dance. Since the life
expectancy for these individuals is so low the people who run the activities
tries to make them as fun as they can for all ages. The 2015 meeting for this
conference has already happened. The date for the next meeting is still undetermined.
I was inspired to research this topic because of my best friend. So this website is
in dedication to my best friend Alex who was diagnosed with type 3 HPS
at birth. While he may not be in severe risk for developing pulmonary fibrosis
I still pray that everyday he is safe and finds ways to make every moment
worthwhile. Even though we weren't born into the same family I love this man
like a brother and hope that one day the solution to his disorder is found
that way no one else has to struggle the ways he does.
The type of albinism associated with this defect is known as
oculocutaneous albinism and it refers to the mutation and/or lack of
pigmentation in the skin, hair, and eyes. It causes the hairs on the
individual's body to become a much lighter shade, even to the point
in which they would appear to be white. The skin color of an individual
is also affected in which it would become a much lighter color and a
fair complexion. This fair complexion could affect the person's
sensitivity to sunlight in a way that would make them more vulnerable
to developing skin cancer. Some individuals claim that just having
the sun light hit their skin causes them to experience pain. The lack
of pigmentation in the affected individual's iris and retina causes them
to experience great discomfort or even pain when they spend too much time
in direct contact with light sources. The lack of pigmentation in the iris
can cause the color of the eyes to appear as a light blue or a dark brown
color.
Due to the lack of pigmentation in the iris and retinas this causes
the affected to have reduced vision. In most cases the individual born
with HPS is completely blind at birth but some lucky persons are able
to develop increased vision. This increased vision is only compared to
being fully blind however, in most cases the developed vision only goes
to about 20/200 and 20/70 in prime lighting conditions. Those individuals
who develop vision usually also develop a nystagmus which is the rapid and
involuntary movement of the eyes. This makes focusing on a set point very difficult
for the affected person. In some accounts it is also claimed that the persons
peripheral vision is better than their immediate vision. 
The most common form of
bleeding diathesis that these individuals
experience is known as hemophilia. This occurs when the affected persons
platelets fail to clump together in order to clot. Due to this failure
of blood coagulation these individuals bruise much easier and bleed
for prolonged periods of time. The reason the platelets fail to coagulate
is due to the absent or severely deficient dense granules count in platelets.
However, the alpha granule contingent is still normal, meaning that platelet
count is still normal. This type of bleeding diathesis is also common for
causing epistaxis (nosebleeds) in younger persons but eventually diminishes as they
grow into adolescence. 
Pulmonary fibrosis is characterized by the buildup of scar tissue in
the lungs and causes the affected persons to develop strained breathing due to decreased gas exchange
and eventual asphyxiation. This symptom doesn't usually present itself
until the individual reaches the age of about 30 but when it does appear
the person doesn't usually survive past the next decade. This type of
fibrosis is currently exclusive to individuals who are diagnosed with type
1, 2, and 4 HPS. The reason why most people with HPS don’t live more than
a decade with pulmonary fibrosis is due to their bleeding disorders
causing invasive surgeries to be extremely risky. 
Since there is no cure this disorder yet the affected people have to find
ways in order to adapt their everyday actions to make it their lives easier.
The vision impairment can't just simply be corrected by surgery or glasses.
The glasses may work for some people but for most it will only cause the wearer to
develop a headache and possibly eye pain. So in order for some to be able to
read papers and other forms of press they will learn how to read brail or buy a
glass half sphere. They will set the half sphere over the paper and it will magnify
the content of the paper. Other individuals will print out paper that is double
the normal size that way the text size is also doubled. Whenever a person is
bleeding uncontrollably they will press a thrombin-soaked gelfoam into the affected
area. If the individual will be going into surgery they will have to receive
platelet or red blood cell transfusions.
The best form of treatment though is prevention and thankfully there are some simple ways
in which an affected individual can prevent an accident. In order for a person to
avoid developing skin tumors they are advised to wear very strong forms of sunscreen
of to avoid prolonged sun exposure. A way to let EMS personal and other people
know that the person has a severe bleeding disorder is to wear a medical alert
bracelet at all times that specifies the type of disorder and other sensitive
information. Simple immunizations for influenza and pneumonia are also advised
to avoid the risk of pulmonary fibrosis. Also simple regular exercise is a good
to keep the body healthy.
