Krabbe Disease Follow-up

Updated: May 03, 2017
  • Author: Reem Saadeh-Haddad, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Follow-up

Further Inpatient Care

Hematopoietic stem cell transplantation (HSCT) in patients with Krabbe disease should be considered only at an experienced center and follow-up care coordinated with the transplant team.

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Deterrence/Prevention

Provide genetic counseling for at-risk couples to explain reproductive options. Prenatal diagnosis, if feasible and desired, can be beneficial in future pregnancies by providing reassurance in the case of an unaffected fetus or by allowing an informed exploration of options, such as termination of pregnancy or, potentially, early stem cell therapy, in the case of an affected fetus.

If molecular testing in a patient with Krabbe disease identifies the causative mutations, family members at risk for carrying the mutation may wish to be tested. The mode of inheritance for Krabbe disease is autosomal-recessive. Therefore, two causative mutations in the GALC gene result in disease. The parents of an affected child are obligate carriers. Each subsequent child of this couple has a 25% risk of also being affected. There is a 50% risk that a child of this couple is unaffected but a carrier. There is a 25% chance that another child of this couple will be unaffected and not a carrier. Each sibling of this couple may be carriers and may desire to know this information to determine the risk posed to their future children. Thus, genetic counseling is an important and integral component to the workup of a child with Krabbe disease.

Prenatal testing is best discussed prior to pregnancy. Options, including preimplantation genetic diagnosis to prenatal diagnosis, can be discussed at length with the family so that they can make the best decision for themselves.

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Complications

Irreversible neurologic deterioration and death can occur. Patients are at risk for aspiration pneumonia and recurrent respiratory infections caused by neurologic compromise.

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Prognosis

In patients with type 1 infantile Krabbe disease, the average lifespan is 13 months. Most patients with type 2 disease die within 2 years of disease onset. With both juvenile-onset and adult-onset Krabbe disease, progression of disease and lifespan reduction vary. HSCT results indicate markedly improved short-term survival for individuals who are treated while asymptomatic during the early neonatal period. [9, 47]

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Patient Education

Provide information to the families of patients with Krabbe disease regarding disease manifestations and potential complications. Educate parents regarding the genetic basis of the disease and include information on recurrence risks, carrier identification, and the possibility of prenatal diagnosis during future pregnancies. Educate parents about the risks, benefits and limitations of hematopoietic stem cell transplantation.

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