Table 7. [Recommended Surveillance for Individuals with MYH9-Related Disease]. - GeneReviews®

System/Concern	Evaluation	Frequency
Thrombocytopenia	Microscopic assessment of platelet count Note: Electronic cell counters do not recognize the largest platelets of persons w/MYH9-RD & thus underestimate platelet count & size.	At least annually AND in case of bleeding &/or reported changes in bleeding diathesis AND prior to hemostatic challenges (surgery, delivery, other invasive procedures)
Bleeding episodes	Assessment of person's bleeding history through standardized questionnaires (e.g., ISTH Bleeding Assessment Tool) ¹ Blood count to screen for anemia	Annually AND in case of bleeding &/or reported changes in bleeding diathesis AND prior to hemostatic challenges
SNHL	Screening	Audiogram	Every 3 yrs AND in case of reported worsening of hearing function
Known	Per treating audiologist/ otolaryngologist	Per treating audiologist/ otolaryngologist
Nephro- pathy	Screening	Urinalysis, 24-hour protein, or protein (or albumin)-to-creatinine ratio on a spot urine sample; serum concentration of creatinine	Annually, or every 6 mos in genotypes w/high risk of kidney damage (See Genotype/Phenotype Correlations.)
Known	Per treating nephrologist	Per treating nephrologist
Cataract	Screening	Ophthalmologic exam incl slit lamp	Every 3 yrs AND in case of reported symptoms suggestive for cataract
Known	Per treating ophthalmologist	Per treating ophthalmologist
Abnormal liver enzymes	Measurement of serum AST, ALT, & GGT	Every 3 yrs
If other causes of liver damage are excluded when liver enzymes are altered	Frequency of liver enzyme measurements depends on severity of alteration.

System/Concern

Evaluation

Frequency

Thrombocytopenia

Microscopic assessment of platelet count
Note: Electronic cell counters do not recognize the largest platelets of persons w/MYH9-RD & thus underestimate platelet count & size.

At least annually AND in case of bleeding &/or reported changes in bleeding diathesis AND prior to hemostatic challenges (surgery, delivery, other invasive procedures)

Bleeding episodes

Assessment of person's bleeding history through standardized questionnaires (e.g., ISTH Bleeding Assessment Tool) ¹
Blood count to screen for anemia

Annually AND in case of bleeding &/or reported changes in bleeding diathesis AND prior to hemostatic challenges

SNHL

Screening

Audiogram

Every 3 yrs AND in case of reported worsening of hearing function

Known

Per treating audiologist/ otolaryngologist

Nephro-
pathy

Screening

Urinalysis, 24-hour protein, or protein (or albumin)-to-creatinine ratio on a spot urine sample; serum concentration of creatinine

Annually, or every 6 mos in genotypes w/high risk of kidney damage (See Genotype/Phenotype Correlations.)

Known

Per treating nephrologist

Cataract

Screening

Ophthalmologic exam incl slit lamp

Every 3 yrs AND in case of reported symptoms suggestive for cataract

Known

Per treating ophthalmologist

Abnormal liver enzymes

Measurement of serum AST, ALT, & GGT

Every 3 yrs

If other causes of liver damage are excluded when liver enzymes are altered

Frequency of liver enzyme measurements depends on severity of alteration.

From: MYH9-Related Disease

GeneReviews^® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.