Table 8. [X-Linked Proliferative Disease: Recommended Surveillance 1]. - GeneReviews®

System/Concern	Evaluation	Frequency
Gastroenterology/ Hepatology	Monitor for liver dysfunction w/hepatic profiles (serum transaminases, bilirubin, triglycerides, lactate dehydrogenase) & coagulation studies (prothrombin time, PTT, fibrinogen)	As needed based on clinical status / eval for early evidence of HLH
Monitor for signs & symptoms of colitis & cholangitis, in those w/XLP2.	At each visit
Hematology / Spleen / Lymph nodes / Oncology	Physical exam for evidence of hepatosplenomegaly & lymphadenopathy
Measurement of CBC	As needed based on clinical status / eval for early evidence of HLH
Immunologic	Measurement of serum IgG levels	As needed based on phenotype. Serial immunoglobulin evals are recommended if person has recurrent respiratory infections.
Measurement of serum inflammatory markers (ferritin, soluble IL2RA)	As needed based on clinical status / eval for early evidence of HLH
Infection	EBV-PCR in blood for evidence of EBV infection	If symptoms of infection or HLH develop
Neurologic	History & physical exam for evidence of any neurologic changes	At each visit
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

System/Concern

Evaluation

Frequency

Gastroenterology/
Hepatology

Monitor for liver dysfunction w/hepatic profiles (serum transaminases, bilirubin, triglycerides, lactate dehydrogenase) & coagulation studies (prothrombin time, PTT, fibrinogen)

As needed based on clinical status / eval for early evidence of HLH

Monitor for signs & symptoms of colitis & cholangitis, in those w/XLP2.

At each visit

Hematology / Spleen / Lymph nodes / Oncology

Physical exam for evidence of hepatosplenomegaly & lymphadenopathy

Measurement of CBC

As needed based on clinical status / eval for early evidence of HLH

Immunologic

Measurement of serum IgG levels

As needed based on phenotype. Serial immunoglobulin evals are recommended if person has recurrent respiratory infections.

Measurement of serum inflammatory markers (ferritin, soluble IL2RA)

As needed based on clinical status / eval for early evidence of HLH

Infection

EBV-PCR in blood for evidence of EBV infection

If symptoms of infection or HLH develop

Neurologic

History & physical exam for evidence of any neurologic changes

At each visit

Family/Community

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).

From: X-Linked Lymphoproliferative Disease

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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