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$Title{Hemoglobinuria, Paroxysmal Nocturnal}
$Subject{Hemoglobinuria, Paroxysmal Nocturnal PNH Marchiafava-Micheli Syndrome
Hemoglobinuria, Paroxysmal Cold Anemia, Autoimmune Hemolytic}
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Copyright (C) 1989 National Organization for Rare Disorders, Inc.

670:
Hemoglobinuria, Paroxysmal Nocturnal

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

Synonyms

     PNH
     Marchiafava-Micheli Syndrome

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

     Hemoglobinuria, Paroxysmal Cold
     Anemia, Autoimmune Hemolytic

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.

Paroxysmal Nocturnal Hemoglobinuria is a decrease of red blood cells
(anemia) caused by a defect in the membrane of the red blood cells.  It is
characterized by the presence of blood (hemoglobin) in the urine
(hemoglobinuria) and plasma (hemoglobinemia) which occurs chiefly at night
due to breakdown of red blood cells.

Symptoms

Symptoms of Paroxysmal Nocturnal Hemoglobinuria include severe abdominal or
back pain occurring during the phase where the oxygen carrying portion of the
red blood cell (hemoglobin) is released from the red blood cells (hemolysis).

Other symptoms may include blood in the urine, paleness, and a yellowness
or bronzing (jaundice) of the skin.  Enlargement of the spleen (splenomegaly)
and the liver (hepatomegaly) may also be present.


There may also be blood clots in the veins (venous thrombosis) usually
occurring in the spleen, liver and inferior vena cava.

Usually patients are mildly anemic for several years before the major
symptoms of hemoglobinuria become apparent.

Causes

The exact cause of Paroxysmal Nocturnal Hemoglobinuria is not known, but it
appears to be a defect in the membrane of the red blood cells causing the
breakdown of red blood cells and release of hemoglobin.  In 20 to 30% of the
cases, the patient may have been affected by an injury to the bone marrow
(i.e., aplastic anemia).  And in some cases, an infection, the administration
of iron, or a vaccine, and/or menstruation in women can proceed onset of
symptoms.

Affected Population

Paroxysmal Nocturnal Hemoglobinuria is a disease that may occur at any age,
but is most common in men between the ages of 20 to 45.  There has also been
no racial predominance noted.

Related Disorders

Symptoms of the following disorders can be similar to those of Paroxysmal
Nocturnal Hemoglobinuria.  Comparisons may be useful for a differential
diagnosis:

Paroxysmal Cold Hemoglobinuria (PCH) is caused by exposure to cold; i.e.,
drinking cold water, or handwashing in cold water.  It occurs in some
patients with congenital or acquired syphilis, but most often in patients
with a nonspecific "viral" illness.  Other patients appear to have no
predisposing factor.

Autoimmune Hemolytic Anemia primarily affects women more often than men,
and mostly those under the age of 50 years.  An enlarged spleen
(splenomegaly) is common.  The anemia is usually severe, with a tendency
towards blood clotting.  Blood in the urine is rare since the destruction of
the red blood cells occurs primarily in the spleen.

Therapies:  Standard

Treatment of Paroxysmal Nocturnal Hemoglobinuria consists of administration
of androgens in some cases.  Blood transfusions containing plasma should be
avoided; but packed, saline washed red blood cells may be given during
crises.  Anticoagulants (such as Heparin) should be used with caution but
appear useful in treatment of clots.  Iron supplements for treatment of
anemia may also be prescribed.  Several patients have been treated
successfully by normal bone marrow transplantation.  Other treatment may be
symptomatic and supportive.

Therapies:  Investigational

This disease entry is based upon medical information available through April
1989.  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 Paroxysmal Nocturnal Hemoglobinuria, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     Dr. Russell Ware
     Department of Pediatrics
     Division of Hematology/Oncology
     Duke Univerity Medical Center
     Durhm, NC  27710

     NIH/National Heart, Lung and Blood Institute (NHLBI)
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-4236

References

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little, Brown and
Co., 1987.  Pp.  1062, 1066.

VENOUS THROMBOSIS AND SPLENIC RUPTURE IN PAROXYSMAL NOCTURNAL
HEMOGLOBINURIA, D. Zimmerman, et al.; Am. J. Med., Feb., 1980 (issue 68(2)).

THROMBOLYTIC THERAPY FOR INFERIOR VENA CAVA THROMBOSIS IN PAROXYSMAL
NOCTURNAL HEMOGLOBINURIA.  P.W. Sholar, et al.; Ann. Intern. Med., Oct.,
1985, (issue 103(4)).  Pp. 539-41.