Table 5. [Recommended Evaluations Following Initial Diagnosis in Individuals with ATP8B1 Deficiency]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Comprehensive medical history & physical exam
Cholestasis	Assessment by hepatologist	Standard biochemical assays of hepatocellular function & hepatobiliary injury Liver imaging Liver biopsy if indicated by imaging studies &/or biochemical assays Assess for portal hypertension.
Chronic liver disease	Same as cholestasis; also assess for other complications of end-stage liver disease
Pruritus	Consider use of clinical tools to quantify itch. ¹ Consider serum bile acid quantification.
Poor growth	Specific focus on diarrhea Review of growth parameters Consider measurements of mid-arm circumference.
Nutritional deficiencies (incl vitamins A, D, E, K)	Assessment for evidence of vitamin deficiencies
Sensorineural hearing loss	By audiologist	In all persons whether symptomatic or not
Resistance to parathyroid hormone	By endocrinologist	When serum levels of calcium are low & phosphorus levels are ↑
Pancreatitis or pancreatic exocrineinsufficiency	By hepatologist	If serum amylase & lipase levels are high, & fecal fat content is excessive, consider dedicated pancreatic imaging.
Genetic counseling	By genetics professionals ²	To inform patients & families re nature, MOI, & implications of ATP8B1 deficiency to facilitate medical & personal decision making
Family support & resources		Assess: Use of community resources & support/advocacy organizations (e.g., Parent to Parent); Need for social work involvement for parental support.

System/Concern

Evaluation

Comment

Constitutional

Comprehensive medical history & physical exam

Cholestasis

Assessment by hepatologist

Standard biochemical assays of hepatocellular function & hepatobiliary injury
Liver imaging
Liver biopsy if indicated by imaging studies &/or biochemical assays
Assess for portal hypertension.

Chronic liver disease

Same as cholestasis; also assess for other complications of end-stage liver disease

Pruritus

Consider use of clinical tools to quantify itch. ¹
Consider serum bile acid quantification.

Poor growth

Specific focus on diarrhea
Review of growth parameters
Consider measurements of mid-arm circumference.

Nutritional deficiencies
(incl vitamins A, D, E, K)

Assessment for evidence of vitamin deficiencies

Sensorineural hearing
loss

By audiologist

In all persons whether symptomatic or not

Resistance to
parathyroid hormone

By endocrinologist

When serum levels of calcium are low & phosphorus levels are ↑

Pancreatitis or pancreatic
exocrineinsufficiency

By hepatologist

If serum amylase & lipase levels are high, & fecal fat content is excessive, consider dedicated pancreatic imaging.

Genetic counseling

By genetics professionals ²

To inform patients & families re nature, MOI, & implications of ATP8B1 deficiency to facilitate medical & personal decision making

Family support
& resources

Assess:

Use of community resources & support/advocacy organizations (e.g., Parent to Parent);
Need for social work involvement for parental support.

From: ATP8B1 Deficiency

GeneReviews^® [Internet].

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

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