A guide to coordinating care for CAH

Congenital adrenal hyperplasia (CAH) is a group of inherited genetic disorders that affect hormone production in the adrenal glands, a pair of walnut-sized glands located on top of each kidney.

The adrenal glands produce hormones that regulate the body’s stress response (cortisol) and sodium/potassium balance (aldosterone). Production of these hormones involves a complex interaction of proteins and enzymes.

When a person has CAH, genetic variations cause a deficiency in one or more of the enzymes the adrenal glands need to make cortisol and aldosterone. These genetic variations are inherited from a person’s biological parents.

Many forms of CAH can also result in an overproduction of androgen hormones, another type of hormone produced by the adrenal glands. Cortisol and androgens share a number of precursor compounds. When the adrenal glands cannot make cortisol, those precursor compounds are diverted into androgen production.

Depending on the type of CAH a person has, the condition can affect growth and development, the body’s ability to retain salts and water, and reproductive health.

Keep in mind that these are simplified explanations of complex biological processes and a complex genetic condition. A healthcare provider will always be your best source of information.

Management and treatment of CAH

People with mild forms of CAH may only need regular monitoring and/or low doses of medications. Severe forms of CAH put a person at risk for adrenal crisis, a life-threatening complication caused by extremely low levels of adrenal hormones.

CAH can require ongoing therapy with multiple types of medications, including medications to replace cortisol, balance sodium/potassium levels, maintain blood pressure, replace salts, and balance hormone levels to support normal growth and development

Managing and preventing side effects from medications is also an important focus of treatment. Glucocorticoid (also called corticosteroid) replacement medications are the main treatment in many cases. Side effects associated with prolonged use include weight gain, diabetes, and osteoporosis.

A goal of newer therapies is to reduce the amount of glucocorticoid medication required to manage CAH.

The healthcare providers who treat CAH

Treatment for CAH is typically overseen by an endocrinologist, a medical doctor who specializes in treating disorders of the body’s hormone-producing system (called the endocrine system). This will be a pediatric endocrinologist for infants, children, and adolescents.

However, treatment is often a coordinated effort involving several healthcare providers, including a medical geneticist, primary care provider, pharmacist, clinical social worker, mental health professionals, and specialty care nurses. This is referred to as multidisciplinary care or interprofessional care.

Also, because CAH is a lifelong condition, treatment needs and goals can change over time, and a person may work with different healthcare providers at different times.

Coordinating care for CAH

“Care coordination” refers to the ability of your different healthcare providers to communicate with each other, share information, and ensure all parts of a care plan are working together.

One of the best approaches for care coordination is to work with a team that specializes in rare endocrine disorders and is based in a single location. This is sometimes called a “comprehensive care center.” However, access to such a team can be limited by your location and the healthcare resources accessible where you live.

Here are two additional strategies that can help.

Designate a point person

Designate one healthcare provider as your “point person.” This provider should have a full overview of your treatment and other aspects of your healthcare. This may be your endocrinologist, your primary care provider, or a nurse care coordinator.

Keep a personal health record

This is a file that includes all paperwork and documents related to CAH as well as other aspects of your health and healthcare. This file should contain:

• Copies of test results, evaluations, and workups from specialists
• Treatment records, including medications prescribed
• Contact information for all of your healthcare providers
• Insurance information
• Copies of bills, receipts, explanation of benefits documents, and other information related to the financial aspects of treatment
• An individualized care plan that outlines steps for stress dosing and emergency treatment during an adrenal crisis

You can also include your own notes from appointments and information provided by healthcare providers, such as patient education materials. It also helps to keep a diary or journal, where you track symptoms and treatment.

While this can take time and effort, it can also save you time and effort. Organization can help you find relevant information quickly when contacting your insurance provider or if you are referred to a specialist. It can also help prevent gaps in treatment while transitioning from pediatric to adult management of CAH.