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Stevens-Johnson syndrome

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Also listed as: WAS
Related terms
Background
Author information
Bibliography
Causes
Symptoms
Treatment
Prevention
Adverse effect vs. allergic reaction
Support for patients

Related Terms
  • Antibodies, auto recessive, B-cells, bone marrow, bone marrow transplant, CBC, genetic disorder, immune system, immunodeficiency, inherited disorder, inherited immunodeficiency, leukocytes, leukemia, lymphoma, lymphocytes, malignancy, platelets, pneumonia, red blood cells, T-cells, thrombocytes, thrombocytopenia, tumor, WASP, white blood cells, Wiskott Aldrich syndrome, Wiskott-Aldrich syndrome protein, X-linked.

Background
  • Wiskott-Aldrich syndrome (WAS) is an inherited, immunodeficiency disorder that occurs almost exclusively in males. The recessive genetic disorder is caused by a mutation in the WAS (Wiskott-Aldrich syndrome) gene, which is an X-linked trait. The gene mutation leads to abnormalities in B- and T-lymphocytes (white blood cells), as well as blood platelet cells. In a healthy individual, the T-cells provide protection against viral and fungal infection, the B cells produce antibodies, and platelets are responsible for blood clotting to prevent blood loss after a blood vessel injury.
  • Individuals diagnosed with WAS suffer from recurrent infections, eczema and thrombocytopenia (low levels of platelets).
  • Before 1935, patients only lived an average of eight months. Today, patients usually live an average of eight years, according to a recent case study. The cause of death is usually attributed to extensive blood loss. However, cancer (especially leukemia) is common and often fatal among WAS patients.
  • The only possible cure for WAS is a bone marrow transplant. However, if a patient's family member is not a possible match for a bone marrow donation, patients may have to wait years for a potential donor. Other aggressive treatments may also increase a patient's life expectancy. For instance, one study found that patients who underwent splenectomy (removal of the spleen) lived to be more than 25 years old. The spleen may harbor too many platelets, and cause a decrease in the number of platelets in circulation. Antibiotics, antivirals, antifungals, chemotherapeutic agents, immunoglobulins and corticosteroids have also been used to relieve symptoms and treat infections and cancer associated with WAS.
  • Researchers estimate that about four people per one million live male births develop the disease in the United States.
  • The syndrome is named after Dr. Robert Anderson Aldrich, an American pediatrician who described the disease in a family of Dutch-Americans in 1954, and Dr Alfred Wiskott, a German pediatrician who discovered the syndrome in 1937. Wiskott described three brothers with a similar disease, whose sisters were unaffected.

Author information
  • This information has been edited and peer-reviewed by contributors to the Natural Standard Research Collaboration (www.naturalstandard.com).

Bibliography
  1. Binder V, Albert MH, Kabus M, et al. The genotype of the original Wiskott phenotype. N Engl J Med. 2006 Oct 26;355(17):1790-3.
  2. Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004 Dec 15;104(13):4010-9. Epub 2004 Jul 29.
  3. Natural Standard: The Authority on Integrative Medicine. .
  4. St. Jude Children's Research Hospital. Inherited Immunodeficiencies: Wiskott-Aldrich Syndrome (WAS). .
  5. U.S. Immune Deficiency Foundation. The Wiskott Aldrich Syndrome. .

Causes
  • Individuals who have the disease have a mutated WAS (Wiskott-Aldrich syndrome) gene, which codes for the protein named Wiskott-Aldrich Syndrome Protein (WASP). This protein is present in leukocytes (white blood cells that fight against infection), as well as platelets. Consequently, individuals who are diagnosed with WAS are more susceptible to infections and bleeding.
  • The disease is inherited as an X-linked recessive trait. Therefore, it affects males almost exclusively. If a male inherits the mutated WAS gene, he will develop the disease because he has only one X chromosome.
  • Females, on the other hand, have two X chromosomes. Even if a female inherits the mutated gene, chances are the other gene will be healthy because the disease is extremely rare. The female would need to inherit two mutated X chromosomes in order to develop the disease. However, if the female inherits one mutated gene she is a carrier for the disease, and there is a 50% chance she will pass the gene to each of her children. Carriers do not express symptoms of the disease.

Symptoms
  • WAS symptoms range from mild to severe and begin early in childhood. A less severe form of the disease will mainly affect the platelets. Common symptoms include eczema, thrombocytopenia, immune deficiency and bloody diarrhea.
  • Individuals who have WAS are more susceptible to bleeding and infections, as well as malignancies like lymphoma or leukemia. Common infections include otitis media (ear infections), sinusitis, pneumonia, herpes simplex and the Epstein-Barr virus (EBV). In addition, WAS patients frequently suffer from autoimmune disorders like vasculitis (inflamed blood vessels), arthritis and autoimmune hemolytic anemia.
  • About 81% of individuals with WAS develop eczema, a skin disorder that causes red itchy patches of skin on the face, elbows, knees and arms. Eczema usually improves as the patient ages. However, in some cases, persistent eczema and skin rashes may cause secondary infections. Other complications may include cellulitis (inflamed connective tissue), abscesses or erythroderma (reddening of the skin).

Treatment
  • Currently, the only known cure for the disease is a bone marrow transplant. A splenectomy may increase the patient's life expectancy. Also, antibiotics, antivirals, antifungals, chemotherapeutic agents, immunoglobulins and corticosteroids are used to relieve symptoms and treat infections associated with WAS.
  • Antibiotics: Antibiotics have been used to treat bacterial infections and for prophylaxis in patients who have had a splenectomy.
  • Antifungals: Antifungal agents are used to treat patients who experience fungal infections associated with WAS.
  • Antivirals: Some patients are given antiviral medicines like Valacyclovir (Valtrex®) or Famciclovir (Famvir®) to treat herpes simplex.
  • Bone marrow transplant: Currently, the only known cure for WAS is a bone marrow transplant. The healthy bone marrow must match the patient's tissue type. It can be taken from the patient, a living relative (usually a sibling) or from an unrelated donor (found through the national marrow donor program). Donors are matched through special blood tests called HLA (human leukocyte antigens) tissue typing.
  • Chemotherapy agents: Chemotherapy agents are used to treat lymphoreticular and/or hematological malignancy. Chemotherapy agents like busulfan are also used as ablative agents (with or without irradiation) before bone marrow transplantation.
  • Corticosteroids: Corticosteroids like Prednisone (Deltasone®, Orasone® or Sterapred®) have been used to decrease inflammation associated with WAS. Treatment generally lasts two to three weeks.
  • Immune Globulin Intravenous Injection (IGIV): IGIV injections like Gamimune N®, Gammagard S/D® or Sandoglobulin® have been administered to boost the body's immune response and decrease the risk of infections. During the procedure blood products containing immunoglobulins are injected into the bloodstream. The process also increases the number of platelets in the blood, reducing symptoms of thrombocytopenia. Treatment usually lasts from two weeks to three months.
  • Splenectomy: Some patients may have their spleen surgically removed (splenectomy) to increase the level of platelets in the blood.
  • Topical steroids: Topical corticosteroids (like hydrocortisone, betamethasone or fluticasone propionate) are the most common and effective treatments for eczema, which is a common symptom of WAS. These medications are used until the rash clears up. Low-strength topical corticosteroids should be used on the face. Over-the-counter hydrocortisone (like Bactine®, Cortaid®, Dermolate® or Aveeno Anti-Itch cream®) is a low-strength corticosteroid cream that has been used to treat young children.

Prevention
  • There is currently no known method to prevent WAS. However, individuals can be tested to determine whether they are carriers of the disease.

Adverse effect vs. allergic reaction
  • Not all adverse reactions to drugs are allergies. In fact, less than 10 percent of adverse drug reactions are allergic because most drug side effects are not related to the immune system. Instead, the drug directly affects various organs throughout the body.
  • For instance, a nasal decongestant constricts the capillaries in the nose in order to reduce nasal swelling and open the airway passages. However, a side effect is that it also constricts the capillaries in other regions of the body, which may lead to an increased heart rate, headache, dizziness or increased blood pressure. Since a decongestant is not specific to a single part of the body or one single action, many people could experience side effects. Therefore, it is a non-allergic reaction because the body's immune system is not involved.
  • Other causes of adverse reactions include interactions between two or more drugs, overdose or the body's inability to break the drug down completely as a result of liver or kidney damage.
  • Allergic reactions can be classified into four immunopathologic categories using various classification systems. These classifications are based on the immune system's response to the allergen, not on the severity of the reaction.
  • SJS is technically an immune-complex-mediated hypersensitivity (allergic) condition. Therefore, SJS is a type III allergic reaction. This category involves the formation of an antigen-antibody immune complex, which deposits on blood vessel walls and activates cell components known as complements. This causes a serum-sickness like syndrome, involving fever, swelling, skin rash and enlargement of the lymph nodes in about three to eight hours. It may be caused by a variety of allergens, including penicillins, sulfonamides, intravenous (IV) contrast media and hydantoins.

Support for patients
  • The Steven Johnson Syndrome Foundation is an online resource for SJS patients and their families. The organization aims to provide support services, information about SJS treatments and therapies to both healthcare professionals and the public. The goal of the organization is to promote awareness about the disease so that a quick diagnosis can be made and quality treatment can begin.
  • More information can be found at the Steven Johnson Syndrome Foundation website, www.sjsupport.org.

Copyright © 2011 Natural Standard (www.naturalstandard.com)


The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.

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