Table 6. [Treatment of Manifestations in Individuals with MYH9-Related Disease]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Thrombo- cytopenia & bleeding tendency	Treatments incl local measures, transfusion of platelet concentrates, eltrombopag, antifibrinolytics drugs, desmopressin. See Thrombocytopenia and/or Bleeding Tendency. Treatments should be administered by hematologist or internist w/expertise in hemostasis.	Thrombocytopenia cannot be prevented. Education re drugs that affect platelet function to prevent bleeding (See Agents/Circumstances to Avoid.) Oral contraceptives to prevent or control menorrhagia Regular dental care to prevent gum bleeding
SNHL	Treatments incl hearing aids, cochlear implantation. See Hereditary Hearing Loss and Deafness Overview. See Sensorineural Hearing Loss. Treatments should be administered by audiologist/otolaryngologist.	Education re potentially damaging drugs to prevent occurrence &/or worsening of hearing loss (See Agents/Circumstances to Avoid.)
Nephropathy	Treatments incl angiotensin converting enzyme inhibitors &/or angiotensin receptor blockers, dialysis, kidney transplantation. See Nephropathy. Treatments should be administered by nephrologist.	Education re potentially damaging drugs to prevent occurrence &/or worsening of nephropathy (See Agents/Circumstances to Avoid.)
Cataract	Cataract surgery, per treating ophthalmologist	Education re drugs predisposing to cataract (See Agents/Circumstances to Avoid.)
Abnormal liver enzymes	No specific treatment	Education re potentially hepatotoxic drugs (See Agents/Circumstances to Avoid.)

Manifestation/
Concern

Treatment

Considerations/Other

Thrombo-
cytopenia &
bleeding
tendency

Treatments incl local measures, transfusion of platelet concentrates, eltrombopag, antifibrinolytics drugs, desmopressin.
See Thrombocytopenia and/or Bleeding Tendency.
Treatments should be administered by hematologist or internist w/expertise in hemostasis.

Thrombocytopenia cannot be prevented.
Education re drugs that affect platelet function to prevent bleeding (See Agents/Circumstances to Avoid.)
Oral contraceptives to prevent or control menorrhagia
Regular dental care to prevent gum bleeding

SNHL

Treatments incl hearing aids, cochlear implantation.
See Hereditary Hearing Loss and Deafness Overview.
See Sensorineural Hearing Loss.
Treatments should be administered by audiologist/otolaryngologist.

Education re potentially damaging drugs to prevent occurrence &/or worsening of hearing loss (See Agents/Circumstances to Avoid.)

Nephropathy

Treatments incl angiotensin converting enzyme inhibitors &/or angiotensin receptor blockers, dialysis, kidney transplantation.
See Nephropathy.
Treatments should be administered by nephrologist.

Education re potentially damaging drugs to prevent occurrence &/or worsening of nephropathy (See Agents/Circumstances to Avoid.)

Cataract

Cataract surgery, per treating ophthalmologist

Education re drugs predisposing to cataract (See Agents/Circumstances to Avoid.)

Abnormal
liver enzymes

No specific treatment

Education re potentially hepatotoxic drugs (See Agents/Circumstances to Avoid.)

From: MYH9-Related Disease

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

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