In this episode, I’ll discuss a tip for taking care of patients with a rare disease.
There exists a large number of rare diseases that any given pharmacist might encounter once in their practice, if at all.
Many of these diseases are exacerbated by certain medications but because of their rarity this information is not in tertiary medication references or other resources.
Two examples of this are Porphyria and Myasthenia Gravis.
Porphyria is a group of disorders occurring at various points in heme synthesis. Certain medications might cause or worsen an acute porphyria episode, which could lead to seizures and other neurologic complications.
Myasthenia Gravis is a neuromuscular disorder that can also be exacerbated by certain medications, potentially leading to paralysis of the diaphragm and respiratory failure.
Both of these disorders have foundations that host websites and resources for patients, caregivers and medical professionals.
The Porphyria Foundation has a drug database that contains expert assessments of the potential of drugs to provoke attacks of acute porphyria. The database provides guidance based on a very careful evaluation of international clinical experience, published case reports, previously published drug lists, and theoretical considerations.
The Myasthenia Gravis Foundation of America has a guide to medications for healthcare providers to avoid medications that might affect neuromuscular function in these patients.
Whenever I encounter a patient with a rare disease, I search for an associated foundation that might provide resources for health care professionals that I can use to ensure safe use of medications in the context of the disease state.
Fortunately, there is a resource that has centralized information on rare diseases and identified resources for healthcare professionals called the National Organization for Rare Disorders. At their website rarediseases.org you can find a database of rare disease, a brief monograph, and additional links to known foundations or resources for healthcare professionals.
The few extra moments it takes to search this information out could make a substantial impact on the outcome of patients you care for with rare diseases.
To access my free download area with 20 different resources to help you in your practice, go to pharmacyjoe.com/free.
If you like this post, check out my book – A Pharmacist’s Guide to Inpatient Medical Emergencies: How to respond to code blue, rapid response calls, and other medical emergencies.