eMedicine Specialties > Dermatology > Allergy & Immunology

Bruton Agammaglobulinemia: Follow-up

Author: Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Coauthor(s): Franklin Desposito, MD, Professor of Pediatrics and Clinical Director, Center for Human and Molecular Genetics, UMDNJ-New Jersey Medical School; Consulting Staff, Department of Pediatrics, UMDNJ-University Hospital
Contributor Information and Disclosures

Updated: Jun 12, 2009

Follow-up

Further Inpatient Care

  • Patients with X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia, are hospitalized for severe infections or acute decompensation.

Further Outpatient Care

  • Patients with XLA are treated well medically as outpatients.
    • Treatments with IVIG and necessary antibiotics for infections are all provided on an outpatient basis.
    • Most tests and evaluations can be performed and most medications can be administered on an outpatient basis.

Transfer

  • Immunologists are well equipped to treat the clinical illnesses of XLA. If a patient chooses to have health care provided by a primary care physician, the physician should have a special interest and experience in immunodeficiency diseases.

Deterrence/Prevention

  • Families with a known mutated gene can be prenatally evaluated to better prepare for the infant's care. Testing is performed via amniocentesis or chorionic villi sampling. After birth, testing is performed on cord blood.

Complications

  • Complications for patients with XLA include chronic sinopulmonary infections, enteroviral infections of the central nervous system, increased occurrence of autoimmune diseases, and skin infections.

Prognosis

  • Patients with XLA have survived into their late 40s. The prognosis is good as long as patients are diagnosed and treated early with regular intravenous gamma globulin therapy before the sequelae of recurrent infections appear.15
  • IVIG is responsible for increasing survival rates, with treatment beginning preferably before the patient is aged 5 years.
  • Serious enteroviral infections and chronic pulmonary disease are often fatal in adulthood.

Patient Education

  • Patients and their families must understand the nature of the disease and the importance of early treatment. Identification and treatment of common infections are necessary for a better prognosis.
  • Genetic counseling is recommended for the parents and female siblings of males who are affected. Molecular characterization and carrier detection is informative in 95% of families. Prenatal diagnosis is available.16,17
  • The Immune Deficiency Foundation is a solid resource for both support and education of patients and their families. The foundation can be reached at 1-800-296-4433.
  • The Jeffery Modell Foundation can be reached at 1-800-JEFF-844.

Miscellaneous

Medicolegal Pitfalls

  • Failure to diagnose XLA in a male with a documented family history of the disease can result in legal consequences.
  • Failure to interpret relative laboratory tests, such as immunoglobulin levels or antibody responses, creates legal liability for health care providers.
  • Failure of the family and medical personnel to monitor IVIG infusions is a pitfall.
  • Failure of the physician to withhold all live viral vaccines is a pitfall.
  • Failure of a physician to educate a patient with XLA about health care and maintenance can be a potential cause for legal action.

Special Concerns

  • Special concerns for patients with XLA arise preceding surgery. In this situation, IVIG is preoperatively administered to prevent infection.
  • Live vaccines must be withheld.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Isabel N. Granja Jander, MD, to the development and writing of this article.



More on Bruton Agammaglobulinemia

Overview: Bruton Agammaglobulinemia
Differential Diagnoses & Workup: Bruton Agammaglobulinemia
Treatment & Medication: Bruton Agammaglobulinemia
Follow-up: Bruton Agammaglobulinemia
References
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Further Reading

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Keywords

X-linked agammaglobulinemia, XLA, Bruton agammaglobulinemia, agammaglobulinemia, Bruton disease, Bruton's disease, Bruton tyrosine kinase, Bruton's tyrosine kinase, BTK, BTK gene, BTK gene, immunodeficiency disease

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Contributor Information and Disclosures

Author

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

Coauthor(s)

Franklin Desposito, MD, Professor of Pediatrics and Clinical Director, Center for Human and Molecular Genetics, UMDNJ-New Jersey Medical School; Consulting Staff, Department of Pediatrics, UMDNJ-University Hospital
Franklin Desposito, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, American Society of Human Genetics, and American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

Medical Editor

Julie R Kenner, MD, PhD, Consultant, Clinical Research, Medical Affairs, VaxGen, Inc; Private Practice, Kenner Dermatology Center
Julie R Kenner, MD, PhD is a member of the following medical societies: American Academy of Dermatology and American Society of Tropical Medicine and Hygiene
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Rosalie Elenitsas, MD, Herman Beerman Associate Professor of Dermatology, University of Pennsylvania School of Medicine; Director, Penn Cutaneous Pathology Services, Department of Dermatology, University of Pennsylvania Health System
Rosalie Elenitsas, MD is a member of the following medical societies: American Academy of Dermatology and American Society of Dermatopathology
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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