DBHD: What In the World is That?

If you have dopamine beta hydroxylase deficiency (DBHD), you’re part of a very exclusive club, one that you probably would have passed on if you’d had the chance.

nicki minaj no thanks id rather not dbhd
[Source: giphy.com]
With this rare condition, the person’s brain is missing norepinephrine, epinephrine, and their metabolites. Conversely, researchers have observed increases in dopamine in the patient’s plasma, urine and cerebrospinal fluid. Norepinephrine and epinephrine are neurotransmitters that help regulate various functions, including blood pressure, if they are absent, the patient’s blood pressure can fluctuate wildly, and many times rising from a sitting position can cause blood pressure to rapidly drop. It sounds a lot like postural orthostatic tachycardia syndrome, or POTS, only it’s different.

DBHD is an inherited autonomic recessive trait, and other symptoms include drooping eyelids, dizziness, and in some cases low blood sugar.

Today, treatment is available in the form of a drug called droxidopa. Studies have shown patients generally have an excellent response to this medication, however, symptoms will return if the patient stops taking it.

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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