Which patients with a family history of malignant hyperthermia should be referred for genetic counselling or further evaluation?

There are no specific UK primary care guidelines in the provided context explicitly addressing referral criteria for patients with a family history of malignant hyperthermia (MH) for genetic counselling or further evaluation. However, general principles for referral for genetic counselling in inherited conditions apply.

Patients with a family history of malignant hyperthermia should be referred for genetic counselling or further evaluation if:

• They have a personal or family history suggestive of an inherited genetic disorder, such as MH, which is a known genetic susceptibility to anaesthetic complications.
• There is concern about a genetic diagnosis related to MH, warranting specialist risk assessment and consideration of diagnostic testing.
• They require specialist advice because genetic testing and counselling for MH require expertise and resources not typically available in primary care.

Referral should be made to a healthcare provider with genetics expertise to enable appropriate risk assessment, counselling, and consideration of genetic testing before exposure to triggering anaesthetic agents.

This approach aligns with the general recommendation to seek specialist advice or consider referral for people with a family history of inherited genetic disorders, as outlined in pre-conception and genetic risk assessment guidelines.

In summary: Any patient with a family history of malignant hyperthermia should be referred for genetic counselling or further evaluation if there is a suspicion of inherited risk, to ensure safe management and informed decision-making regarding anaesthesia and related risks.

Note: Specific MH referral pathways may be available locally or via specialist anaesthetic or genetic services.

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