About wiskott aldrich syndrome

What is wiskott aldrich syndrome?

The WAS-related disorders are a spectrum of conditions affecting the immune system that are caused by mutations in the WAS gene. These disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia and X-linked congenital neutropenia. The WAS gene abnormality results in a deficiency in the WASP protein that leads to a low platelet count (thrombocytopenia). WAS-related disorders usually present in infancy and are characterized by bloody diarrhea, recurrent infections, scaling, itchy, skin rashes (eczema), and the appearance of small purple spots on the skin (petechia). The development of Pneumocystis carinii pneumonia (PCP) and intracranial bleeding are possible early, life-threatening complications. Later potential complications include destruction of red blood cells (hemolytic anemia), arthritis, vasculitis and kidney and liver damage. Affected individuals have an increased risk of developing lymphomas, especially after exposure to Epstein-Barr virus. WAS-related disorders are extremely variable, even in individuals in the same family.

What are the symptoms for wiskott aldrich syndrome?

A small red rash consisting of “dots” under the skin (these are called petechiae) symptom was found in the wiskott aldrich syndrome condition

Wiskott Aldrich syndrome (WAS) is a disease with immunological deficiency and reduced ability to form blood clots. Signs and symptoms include easy Bruising or bleeding due to a decrease in the number and size of platelets; susceptibility to infections and to immune and inflammatory disorders; and an increased risk for some cancers (such as lymphoma).  Also, a skin condition known as eczema is common in people with WAS.

What are the causes for wiskott aldrich syndrome?

Wiskott Aldrich syndrome  is caused by mutations in the WAS gene and is inherited in an X-linked manner. It primarily affects males. Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN) are known as “WAS-related disorders” because these diseases are all caused by mutations in the WAS gene, and have overlapping symptoms ranging from severe to mild (Wiskott-Aldrich syndrome is the most severe).  The WAS gene mutations result in deficiency of the Wiskott-Aldrich syndrome protein (WASP). The more deficient the WASP, the more severe the disease.

What are the treatments for wiskott aldrich syndrome?

Treatment may depend on severity and symptoms in each person, but hematopoietic cell transplantation is the only known cure.[8632]  Hematopoietic cells are the blood-forming stem cells that can be found mainly in the sponge-like material found inside bones (bone marrow), but also in the bloodstream (peripheral blood stem cells (PBSCs),  and in the umbilical cord. Prognosis have improved over time due to better management of the disease. People who have a successful and uncomplicated hematopoeitic cell transplantation, usually have normal immune function and, normal survival.

What are the risk factors for wiskott aldrich syndrome?

Wiskott Aldrich syndrome is a syndrome that contains various conditions resulting from a mutation in WAS gene. Mutation in WAS gene results in a deficiency in WASP protein then platelet count starts decreasing. That is called thrombocytopenia. This disease is of immunological deficiency and reduced ability to form blood clots.

  • In this disease, the problems like bloody diarrhea, recurrent infections, scaling, itchy skin rashes (eczema), the appearance of small purple spots on the skin (petechia) and also Pneumocystis carinii pneumonia (PCP) and intracranial bleeding conditions cause life-threatening conditions to occur.
  • Also, there are latter possibilities of the destruction of red blood cells (hemolytic anemia), arthritis, vasculitis, and kidney and liver damage. And some individuals have an increased risk of developing lymphomas after exposure to the Epstein-Barr virus.
  • WAS gene provides instruction to make a protein called WASP, and this protein is found in blood cells and works to help the immune system work properly.
  • Now, a lack of WASP function causes disrupts the function of the acting cytoskeleton in developing blood cells. That results in less response of white blood cells to foreign particles or invaders, and then the problem starts rising.
  • This disease is inherited in an X-linked pattern. In which X-linked if the mutated gene that causes the disorder is located on the X chromosome, in one of the two sex chromosomes, males only have one X – chromosome in each cell, and so it is sufficient to cause of this disease to men. Females have two copies of X- chromosomes.
  • One altered copy of this gene in each cell causes fewer features of the condition or may cause no signs or symptoms.


Symptoms
Frequent and easy bleeding that can occur from the nose, mouth and gums, in bowel movements,Frequent and easy bruising,A small red rash consisting of “dots” under the skin (these are called petechiae),Chronic infections,Eczema (atopic dermatitis)
Conditions
Bleeding,Pneumonia,Eczema (atopic dermatitis),Chronic, bloody diarrhea,Ear and sinus infections,Viral infections like herpes,Cytomegalovirus (CMV) and Epstein-Barr virus (EBV)
Drugs
Antibiotics, antifungal or antiviral medications,Vaccinations

Is there a cure/medications for wiskott aldrich syndrome?

Wiskott Aldrich syndrome is a syndrome that causes conditions like diarrhea, skin infections and other serious problems.

  • Treatment of this disease is hematopoietic cell transplantation is the only known cure.
  • Also, antiviral drugs, high dose immunoglobulin replacement therapy, Varicella Zoster Immune Globulin (VZIG) for treatment of Complications of chickenpox infection.
  • In this disease, the risk of infections is high, so doctors prefer immunoglobulin infusions to prevent infections.
  • There are also active bleeding problems so it is required to stabilize the patient and prevent organ damage.
  • And also, platelet transfusions are indicated for serious bleedings.
  • Eczema requires some constant care in WAS like food allergies, dry skin, etc.
  • Application of a good moisturizing cream after bathing and several times a day will give relief from dry skin/eczema.
  • Steroid ointments can be applied to control inflammation for affected areas, but they may cause thin skin.
  • Autoimmune complications may require medical drugs according to complications for suppressing the immune system, for which Systemic steroids may be used.
  • Stem Cell Transplantation is the only permanent cure for this disease, and after transplant, most patients remain on immunosuppressant medications for a period of time.
  • Gene therapy is also useful in this disease.
  • People with successful treatments usually have a normal immune function and normal survival.


Symptoms
Frequent and easy bleeding that can occur from the nose, mouth and gums, in bowel movements,Frequent and easy bruising,A small red rash consisting of “dots” under the skin (these are called petechiae),Chronic infections,Eczema (atopic dermatitis)
Conditions
Bleeding,Pneumonia,Eczema (atopic dermatitis),Chronic, bloody diarrhea,Ear and sinus infections,Viral infections like herpes,Cytomegalovirus (CMV) and Epstein-Barr virus (EBV)
Drugs
Antibiotics, antifungal or antiviral medications,Vaccinations

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