Diseases Just Learned: Part 1

25 interesting diagnoses

Every profession requires lifelong learning. Whether you are a plumber, an agent, a police officer, or a general internist, you need to keep learning throughout your career. Nobody leaves training with knowledge sufficient for a career. You need to learn to keep up and because true expertise only develops through deliberate practice.

I learn from colleagues and journal articles. However, the learning I enjoy most is practice-based. As I manage the same, common, diseases year after year, I get better and better at managing them. I also make diagnoses — either alone or with the help of colleagues — that I had not previously heard of, or had once learned but then forgot. For the last 15 years I have been keeping a list of “diseases just learned.” I thought it might be interesting and instructive to share this list. Each disease is listed with a brief summary and a link to a good introductory article.

When I used to direct the internal medicine clerkship, I would tell the students to “learn from your patients.” I preached that the best way to learn was to read everything you could about the issues afflicting your patients. This way, you would link the knowledge to a actual person and remember it better. As I prepared this post, I remembered almost every single patient associated with each diagnosis. I’ll post 25 this week and 35 next week. After the first few diagnoses, these two posts are a treat for our paid subscribers. Enjoy.

1. Catamenial Pneumothorax
A spontaneous pneumothorax occurring in women, typically around menstruation, due to endometrial implants on the pleura.

2. Legionella Rhabdomyolysis
A rare complication of legionella. Patients present with muscle pain, weakness, and elevated creatine kinase levels.

3. Empty Nose Syndrome
A paradoxical condition where patients feel nasal obstruction despite having a clear nasal airway. It often occurs following nasal surgery. Symptoms include nasal dryness, breathing difficulty, and a sensation of suffocation.

4. RS3PE: Remitting Seronegative Symmetrical Synovitis With Pitting Edema
An inflammatory arthritis characterized by the sudden onset of pitting edema of the hands and feet. It usually occurs in elderly patients. It is a seronegative arthritis (hence the name) and usually responds to low-dose corticosteroids.

5. APOL1 Related CKD
Kidney disease linked to variants in the APOL1 gene, seen mostly in individuals of African ancestry. It increases the risk for focal segmental glomerulosclerosis (FSGS) and hypertensive kidney disease.

6. Marine-Lenhart Syndrome
The coexistence of Graves' disease with autonomously functioning thyroid nodules presenting with hyperthyroidism. Management can be complicated given the mixed etiology.

7. Burning Mouth Syndrome
A chronic pain disorder with a burning sensation in the mouth without visible lesions. It is often associated with taste disturbances and dry mouth; responds to benzodiazepines; and is self-limited.

8. Paraneoplastic Retinopathy/Optic Neuropathy
An autoimmune condition where antibodies produced against a tumor cross-react with retinal or optic nerve tissues. It leads to progressive visual loss and can precede cancer diagnosis. (I came across this diagnosis when our ophthalmologists directly admitted a patient to my medicine team with this diagnosis. I totally disrespected them for the admission, until they were proven correct.)