Spherocytosis: Difference between revisions

	Spherocytosis Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Spherocytosis from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Spherocytosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Spherocytosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Spherocytosis
CDC on Spherocytosis
Spherocytosis in the news
Blogs on Spherocytosis
Directions to Hospitals Treating Spherocytosis
Risk calculators and risk factors for Spherocytosis

VisualWikitext

Revision as of 16:38, 21 September 2012

Template:DiseaseDisorder infobox

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Symptoms

The spleen's hemolysis results directly in varying degrees of anemia and hyperbilirubinemia, which in turn result in symptoms of fatigue, pallor, and jaundice.

Acute cases can threaten hypoxemia through anemia and acute kernicterus through hyperbilirubinemia, particularly in newborns.

Chronic symptoms include anemia and splenomegaly, or enlargement of the spleen due to its increased activity. In some cases the spleen continues to change sizes. Yet in other cases the spleen just continues growing which puts the patient at a greater risk for rupture, which can cause death. Furthermore, the detritus of the broken-down blood cells--bilirubin--accumulates in the gallbladder, and can cause gallstones or "sludge" to develop. In chronic patients, an infection or other illness can cause an increase in the destruction of red blood cells, resulting in the appearance of acute symptoms, a hemolytic crisis.

Diagnosis

In peripheral blood smears, many of the red blood cells will appear abnormally small and will lack the central pallor--the lighter area in the middle of a RBC as seen under a microscope.

The CBC (cell blood count) laboratory values will show elevated MCHC.

The splenic cords are congested with red blood cells to be destroyed and macrophages of the spleen will show signs of actively destroying erythrocytes (erythrophagocytosis). This will result in an elevated bilirubin level.

The bone marrow in its role of manufacturing red blood cells will display hyperplasia, the increased activity of replacing RBCs. As a result, immature red blood cell-or reticulocyte-counts will appear elevated.

External links

A picture of spherocytes from Medline

References

Kumar, Vinay, Abul Abbas, and Nelson Fausto. "Robbins and Cotran Pathologic Basis of Disease, 7th edition (2004)."
Schneider, Arthur S. and Philip A. Stanzo. "Board Review Series: Pathology, 2nd edition (2002)."

Template:Hematology

de:Kugelzellenanämie it:Sferocitosi nl:Congenitale sferocytose

Template:WikiDoc Sources

@@ Line 25: / Line 25: @@
 The [[bone marrow]] in its role of manufacturing red blood cells will display [[hyperplasia]], the increased activity of replacing RBCs. As a result, immature red blood cell-or [[reticulocyte]]-counts will appear elevated.
-==Treatment==
-===Treatment of acute symptoms===
-Acute symptoms of [[anemia]] and hyperbilirubinemia can indicate treatment with '''[[blood transfusion]]s or exchanges'''.  Transfusions treat [[anemia]] by adding healthy donor blood to the patient's own, providing needed [[red blood cells]].  As the transfused blood does not contain elliptocytes, it will not be hemolysed per se, but the overactive spleen may still break down a significant proportion of the transfused blood.  Exchanges treat hyperbilirubinemia by replacing some portion of the patient's blood with healthy donor blood, thus removing some portion of the toxic [[bilirubin]].
-===Treatment of chronic symptoms===
-Chronic symptoms of [[anemia]] and [[splenomegaly]] typically indicate '''dietary supplementation of [[iron]]''' and eventual treatment by '''[[splenectomy]]''', the surgical removal of the [[spleen]].
-Iron supplementation supports the increased production of red blood cells, but in longstanding cases in which patients have taken supplemental [[iron]] or received numerous [[blood transfusion]]s, [[iron overload]] may be a significant problem, being a potential cause of [[cardiomyopathy]] and [[liver disease]]. If there is [[iron overload]], [[chelation therapy]] with agents such as desferrioxamine may be necessary.
-While [[splenectomy]] does not affect the shape of the blood cells, it does remove the more obvious physical [[symptoms]] of the disorder, as the blood cells are no longer constantly broken down. Though it offers near-immediate relief from symptoms, splenectomy is often not performed until the patient is in late childhood, so as not to hinder the patient's ability to fight off childhood [[infection]]s. Currently<!-- "recent years" in 2007 -->, the [[surgery]] is often performed [[Laparoscopic surgery|laparoscopically]]; this results in a shorter recovery time and a much smaller [[scar]]. Given that surgery is preplanned, it is highly recommended that patients receive prior Pneumovax-II [[pneumococcus]], conjugated-C [[meningococcus]] & Haemophilus influenzae type b vaccinations to combat the patient's new lower tolerance against [[overwhelming post-splenectomy infection]]. The Pneumovax needs repeating every six years and the patient should have a yearly [[flu vaccine]]. [[Prophylactic]] [[antibiotics]] are also given. (See [[asplenia]] for further details on these measures).
-===Treatment of the disorder===
-Both measures described above treat the symptoms, not the cause of the disorder.  Non-hereditary spherocytosis has several causes, each treated differently. Experimental [[gene therapy]] exists to treat [[hereditary spherocytosis]] in lab mice; however, this treatment has not yet been tried on humans and because of the risks involved in human gene therapy, it may never be.  See also [[Hereditary spherocytosis]].
 ==See also==