Clinical Guidance

Dopamine beta-hydroxylase (DBH) deficiency is characterized by a lack of sympathetic noradrenergic function resulting in profound deficits in autonomic regulation of cardiovascular function and other autonomic dysfunction. Most individuals have abnormal kidney function, and some have joint laxity, hypotonia, high-arched palate, anemia, and/or hypoglycemia (in childhood). To date, only about two dozen individuals have been reported with a pathogenic variant in DBH. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Dopamine Beta-Hydroxylase Deficiency: Frequency of Select Features Feature | Proportion of Persons w/Feature1 Abnormal cardiovascular regulation

Diagnostic Criteria

No consensus clinical diagnostic criteria have been published for dopamine beta-hydroxylase (DBH) deficiency. A clinical assessment including orthostatic vital signs and an ophthalmic exam should be the initial step; if indicated, this should be followed by autonomic function testing and plasma catecholamine analysis.

Suggestive Findings

DBH deficiency should be suspected in individuals with the following clinical, physiologic, and laboratory findings .

Clinical findings

Source:

Management Guidelines

No clinical practice guidelines for dopamine beta-hydroxylase (DBH) deficiency have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with DBH deficiency, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Dopamine Beta-Hydroxylase Deficiency: Recommended Evaluations Following Initial Diagnosis

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 6.

Dopamine Beta-Hydroxylase Deficiency: Recommended Surveillance

System/Concern | Evaluation | Frequency

Abnormal cardiovascular regulation