Diagnóstico

El diagnóstico de la enfermedad de Niemann-Pick comienza con una exploración física exhaustiva, la cual puede indicar un signo de advertencia temprana, como un agrandamiento del hígado o bazo. El médico realizará una historia clínica detallada y analizará tanto los síntomas como los antecedentes médicos de tu familia. La enfermedad de Niemann-Pick es poco frecuente y sus síntomas pueden confundirse con los de otras enfermedades. Las técnicas de diagnóstico utilizadas dependen del tipo de enfermedad de Niemann-Pick.

  • Tipo A o B. Usando una muestra de sangre o piel (biopsia), los expertos miden qué nivel de esfingomielinasa se encuentra en los glóbulos blancos para confirmar el diagnóstico.
  • Tipo C. Los expertos toman una pequeña muestra de piel para detectar la enfermedad de Niemann-Pick y evaluar cómo las células se mueven y almacenan colesterol.

También se pueden realizar otras pruebas, como las siguientes:

  • Resonancia magnética (RM). Una resonancia magnética del cerebro puede mostrar pérdida de células cerebrales. Sin embargo, en los estadios tempranos de la enfermedad de Niemann-Pick, una resonancia magnética puede resultar normal debido a que los síntomas generalmente se manifiestan antes de la pérdida de células cerebrales.
  • Examen ocular. Un examen ocular puede indicar signos que podrían ser indicio de la enfermedad de Niemann-Pick, como la dificultad para mover los ojos.
  • Análisis genéticos. El análisis de ADN de una muestra de sangre puede indicar genes anormales específicos que causan la enfermedad de Niemann-Pick tipo A, B y C. Los análisis de ADN pueden mostrar quiénes son portadores en el caso de todos los tipos de la enfermedad de Niemann-Pick si se describieron las mutaciones en la primera persona identificada de una familia (el «caso índice»).
  • Análisis prenatales. Una ecografía puede detectar un agrandamiento del hígado o bazo provocado por el tipo C. Y se pueden utilizar la amniocentesis o el análisis de vellosidades coriónicas para confirmar el diagnóstico de la enfermedad de Niemann-Pick.

Tratamiento

La enfermedad de Niemann-Pick no tiene cura. No existen tratamientos efectivos para las personas con el tipo A o B. Una opción para las personas que tienen el tipo C (leve a moderado), puede ser el fármaco conocido como «miglustat» (Zavesca). Un estudio internacional de 92 personas con Niemann-Pick tipo C reveló una mejoría en los síntomas neurológicos después de haber tomado miglustat en forma regular durante un promedio de dos años.

La fisioterapia es una parte importante del tratamiento para conservar la movilidad tanto como sea posible. Las personas con la enfermedad de Niemann-Pick deben hacer consultas regulares con el médico porque la enfermedad progresa y los síntomas empeoran.

Medicines

For Niemann-Pick disease type B, olipudase alfa-rpcp (Xenpozyme) is an enzyme replacement for missing or low levels of the sphingomyelinase enzyme. This enzyme replacement may help with lung problems and breathing and lessen the size of the liver and spleen. The medicine also may help height growth in children. It does not help with nerve-related symptoms.

Olipudase alfa-rpcp is given through a vein every two weeks.

For people with Niemann-Pick disease type C who have mild to moderate nerve symptoms, a drug called miglustat may be an option. Miglustat is approved for neurological symptoms of Niemann-Pick disease type C in many countries but is not approved by the U.S. Food and Drug Administration for this use in the United States.

Miglustat is a pill that's taken 1 to 3 times a day. Miglustat may slow the worsening of nerve symptoms such as problems with hearing, swallowing and walking. It also may help slow changes in mental health and learning and memory.

Discuss medicines, including possible side effects, with your doctor or other healthcare professional.

Supportive therapies

Therapies for all types of Niemann-Pick disease depend on symptoms and may include:

  • Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing.
  • Nutrition therapy. This includes special foods that can be added to the diet when swallowing becomes difficult.
  • Oxygen therapy. This can help if the lungs are affected and problems with breathing happen.
  • Treatment of symptoms. Treatments can help with infections, seizures, muscle movements that can't be controlled and sleep problems.

People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing.

Estudios clínicos

Explora los estudios de Mayo Clinic que ensayan nuevos tratamientos, intervenciones y pruebas para prevenir, detectar, tratar o controlar esta afección.

Estrategias de afrontamiento y apoyo

If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it's not possible to predict how health and development will change over time.

You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it's time to plan end-of life care.

You may find it helpful to connect with others who are living with Niemann-Pick disease. Depending on your needs, ask for information on organizations that support parents who have children with physical conditions that limit their abilities or who have lost children to such conditions.

Being part of clinical trials may help in the search for effective treatments.

Preparación para la consulta

Signs of Niemann-Pick disease may be noticed before birth. Or you may first share your concerns with a healthcare professional. After an exam, you may be referred to one or more specialists for testing and treatment.

You may want to ask a trusted family member or friend to join you for the appointment. Take someone along who can offer emotional support and can help you remember all of the information.

Here's some information to help you get ready for your first appointment.

What you can do

Before your appointment, make a list of:

  • Any symptoms and how long you've noticed them.
  • Your family's key medical information, including other health conditions.
  • All medicines, vitamins, herbs and other supplements you use, and the doses.
  • Information about your family history, including whether anyone else in your family has Niemann-Pick disease.
  • Questions you want to ask your healthcare professional.

Questions to ask may include:

  • What is likely causing these symptoms?
  • Are there any other possible causes for these symptoms?
  • What kinds of tests are needed to make a diagnosis?
  • Should I see a specialist?

Questions to ask if you're referred to a specialist include:

  • Is this Niemann-Pick disease?
  • What are the treatment options for this condition?
  • What treatments do you suggest?
  • What are the possible complications of this condition?
  • Are regular healthcare appointments needed? How often?
  • Are my other children or family members at higher risk of this condition?
  • Should family members be tested for the gene changes that can cause this condition?
  • What other specialists do you suggest seeing?
  • Are there any clinical trials that might be helpful for this condition?
  • What suggestions do you have for coping with this condition?
  • How can I find other families who are living with Niemann-Pick disease?
  • Are there brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Questions from your healthcare professional may include:

  • What are your or your child's symptoms?
  • When did you first notice these symptoms?
  • Have the symptoms changed over time?
  • Does your child's development seem delayed compared with that of other children who are the same age?
  • Are there things that your child used to be able to do but can no longer do?
  • Have any blood relatives — such as a parent or sibling — been diagnosed with Niemann-Pick disease or had symptoms without ever being diagnosed?

Be ready to answer questions so you have time to discuss what's most important to you.

Enfermedad de Niemann-Pick - atención en Mayo Clinic

Jan. 25, 2018
  1. Patterson MC. Overview of Niemann-Pick disease (Descripción general de la enfermedad de Niemann-Pick). http://www.uptodate.com/home. Último acceso: 31 de octubre de 2016.
  2. Patterson MC, et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study (Manifestaciones neurológicas estables o mejoradas durante el tratamiento con miglustat en pacientes del registro internacional de enfermedades para la enfermedad de Niemann-Pick tipo C: un estudio observacional de cohortes). Orphanet Journal of Rare Diseases (Revista sobre enfermedades poco frecuentes de Orphanet). 2015;10:65. http://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0284-z. Último acceso: 31 de octubre de 2016.
  3. Niemann-Pick disease (Enfermedad de Niemann-Pick). Merck Manual Professional Version (Versión para profesionales del Manual Merck). https://www.merckmanuals.com/professional/pediatrics/inheriteddisordersofmetabolism/Niemannpickdisease. Último acceso: 31 de octubre de 2016.