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$Unique_ID{BRK04153}
$Pretitle{}
$Title{Pulmonary Hypertension, Primary}
$Subject{Pulmonary Hypertension Primary Primary Pulmonary Hypertension PPH
Primary Obliterative Pulmonary Vascular Disease Cor Pulmonale Interstitial
Pneumonia Pulmonary Hypertension Secondary Persistent Pulmonary Hypertension
of the Newborn}
$Volume{}
$Log{}

Copyright (C) 1990, 1992 National Organization for Rare Disorders, Inc.

706:
Pulmonary Hypertension, Primary

** IMPORTANT **
It is possible that the main title of the article (Primary Pulmonary
Hypertension) is not the name you expected.  Please check the SYNONYM listing
to find the alternate names and disorder subdivisions covered by this
article.

Synonyms

     Primary Pulmonary Hypertension
     PPH
     Primary Obliterative Pulmonary Vascular Disease

Information on the following diseases can be found in the Related
Disorders section of this report:

     Cor Pulmonale
     Interstitial Pneumonia
     Pulmonary Hypertension, Secondary
     Persistent Pulmonary Hypertension of the Newborn

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.

Primary Pulmonary Hypertension is a very rare and progressive vascular
disease.  It is characterized by excessively high pulmonary artery pressure,
and multiple lesions that affect the small size arteries (arterioles) that
lead to the capillaries of the lungs.  These lesions are widespread in the
lung.  Eventually, there is a reduction in the amount of blood able to be
forced out by the right ventricle of the heart.

Symptoms

Primary Pulmonary Hypertension is a rare disorder characterized by scattered
disease changes in the arteries and capillaries of the lungs.  Symptoms that
are associated with this disorder are shortness of breath (with or without
exertion), excessive fatigue, weakness, chest pain and fainting.  Some
patients may have puffiness of the face, swelling of the eyelids and a blue-
gray color to the skin (cyanosis).  A cough, sometimes with blood
(hemoptysis), an enlarged heart and liver, low blood pressure, and eventual
heart failure are also symptomatic of Primary Pulmonary Hypertension.  Since
routine laboratory tests may prove inconclusive in diagnosing this disease, a
cardiac catherization and pulmonary angiography may be necessary.

Causes

The exact cause of Primary Pulmonary Hypertension is unknown.  There may be a
genetic predisposition to this disorder transmitted through autosomal
dominant genes if the incidence occurs in several generations of the same
family.  If it occurs in a single generation of the same family it may be
transmitted through autosomal recessive genes.

Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, one received from the father and one from the
mother.  In dominant disorders a single copy of the disease gene (received
from either the mother or father) will be expressed "dominating" the other
normal gene and resulting in appearance of the disease.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene for the same trait from each parent.  If one
receives one normal gene and one gene for the disease, the person will be a
carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.  When Primary Pulmonary Hypertension
occurs without any family history, it's cause is unknown.  A genetic pre-
disposition means that a person may carry a gene for a disease, but it may
not be expressed unless something in the environment triggers the disease
process.

Affected Population

Primary Pulmonary Hypertension occurs more frequently in females than in
males.  It tends to affect females between the age of 20 and 50, while in
males it usually occurs later in life.  This disorder also occurs more
frequently at higher altitude levels than at sea level.

Related Disorders

Symptoms of the following disorders can be similar to those of Primary
Pulmonary Hypertension.  Comparisons may be useful for a differential
diagnosis:

Cor Pulmonale is a term that denotes enlargement of the right ventricle
of the heart that occurs as a result of severe lung disease.  It is used as a
term for pulmonary heart disease which affects both the heart and lungs.  A
common cause of Cor Pulmonale is massive clotting in the lungs which results
in increased pressure in the right ventricle of the heart, usually resulting
in heart failure.  Other causes may be chronic bronchitis, emphysema, and
extensive loss of lung tissue from surgery or injury.  Symptoms usually
include enlargement of the right side of the heart, difficulty breathing,
fainting spells on exertion, and substernal angina pain in the chest.  (For
more information on this disorder, choose "Cor Pulmonale" as your search term
in the Rare Disease Database.)

Interstitial Pneumonia is a type of primary pneumonia.  It involves the
spaces and tissues in the lining of the lungs with abnormal increases in
these tissues.  Major symptoms may include shortness of breath on exertion,
coughing and loss of appetite.  The symptoms may vary from mild to severe
according to the extent of involvement.  The patient usually has no fever,
and there is usually not an over production of mucous.  (For more information
on this disorder, choose "Interstitial Pneumonia", as your search term in the
Rare Disease Database).

Secondary Pulmonary Hypertension is due to a disorder of the lungs.  It
rarely occurs on its own and is usually the result of other lung disease or
related diseases in other organs.  This disorder is characterized by
breathing difficulties, especially after exertion.  (For more information on
this disorder, choose "Secondary Pulmonary Hypertension" as your search term
in the Rare Disease Database).

Persistent Pulmonary Hypertension of the Newborn occurs most often in
full-term or overly-developed newborns.  Infants with this disorder have no
obvious symptoms of heart or lung disease, but will have a high level of
acid, or a lack of bicarbonate content in the blood and body tissues
(acidosis).  They will also have rapid respiration (tachypnea) and a blue-
gray color to the skin (cyanosis).  It is believed to be caused by
insufficient oxygen in the blood flowing to the lungs, just before, during or
after birth (perinatal hypoxemia).

Primary Pulmonary Hypertension is treated with drugs such as nifedipine,
isoproterenol, phentolamine, phenoxybenzamine and prazosin.  The intravenous
drug prostacyclin may also be used to dilate the blood vessels in the lung.
Other drugs include vasodilator drugs, alpha-adrenergic blocking agents, beta
agonists and prostaglandins.  However, none of these drugs cure or halt the
progression of this disease.  Genetic counseling may be of benefit for
patients and their families with a family history of this disorder.

Therapies:  Investigational

The orphan drug epoprostenol is being tested as a treatment for Primary
Pulmonary Hypertension.  For more information on this drug, physicians may
contact Burroughs Welcome, 3030 Cornwallis Rd., Research Triangle Park, NC
27709.

In severe cases of Primary Pulmonary Hypertension that have not responded
to other therapies, a heart-lung transplant may be performed.  This type of
surgery carries a high risk, but it has been successful in some cases.

Clinical trials are underway to study family members of patients with
Primary Pulmonary Hypertension.  Interested persons may wish to contact:

     Dr. John H. Newman
     Vanderbilt University
     B1308 Medical Center North
     Nashville, TN  37232
     [phone]

to see if further patients are needed for this research.

This disease entry is based upon medical information available through
January 1992.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Primary Pulmonary Hypertension, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

Pathlight is a quarterly newsletter for patients with Pulmonary
Hypertension published by:

     United Patients' Association for Pulmonary Hypertension, Inc.
     1060 Pembroke Ave., NE
     Palm Bay, FL  32907

     The Foundation for Pulmonary Hypertension, Inc.
     P.O. Box 61540
     New Orleans, LA  70130

     American Heart Association
     7320 Greenville Ave.
     Dallas, TX 75231
     [phone]

     American Lung Association
     1740 Broadway
     New York, NY 10019
     [phone]

     NIH/National Heart, Blood and Lung Institute
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp. 647; 1158.

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little, Brown
and Co., 1987.  Pp. 527;675.

PULMONARY DISEASES AND DISORDERS, 2nd edition, Alfred P. Fishman, McGraw-
Hill Book Co., 1988.  Pp. 999-1025.

THE MERCK MANUAL, Volume 2, 14th Ed.:  Robert Berkow, M.D.; ed.-in-chief;
Merck Sharp & Dohme Laboratories., 1982.  Pp. 278.

FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS RESULTING IN PRIMARY
PULMONARY HYPERTENSION, D. Langleben et al.; ANN INTERN MED (JULY 15, 1988;
issue 109(2)).  Pp. 106-109.

CURRENT APPROACH TO TREATMENT OF PRIMARY PULMONARY HYPERTENSION, B.M.
Groves, et al.; CHEST (March, 1988, issue 93 (Suppl)).  Pp. 175s-178s.