Ehlers-Danlos, B12 Deficiency, New Onset Seizures, & Myocarditis

FACULTY REPORT 

Dr. Clark presented a clinic patient who presented with history of joint laxity, tendonopathies, and pulmonary hypertension. The patient also had multiple family members who died at a young age of PH. 

This patient was eventually diagnosed with a vascular subtype of Ehlers-Danlos syndrome. 

Dr Clark discussed using the Beighton Score to clinically access for joint hypermobility:
https://www.ehlers-danlos.com/assessing-joint-hypermobility/

Elhers Danlos is one of three genetic syndromes of connective tissue that are characterized by hypermobility, easy bruising, & cardiovascular abnormalities(Marfan & Ehlers-Danlos). The other two diseases in this group are Marfan syndrome & osteogenesis imperfecta. 

Patients with Marfan syndrome and Ehlers-Danlos need regular vascular monitoring usually with ECHO. 

SUB-SPECIALTY REPORT & TEACH SERVICE REPORT - B12 DEFICIENCY - A B12 DOUBLE DOUBLE

Dr. Nwaokocha presented a patient who was admitted with jaundice & conjunctival icterus who was found to have anemia and an elevated LDH determined to be from B12 deficiency (2/2 pernicious anemia) inducing poor Hgb production & hemolysis. 

We reviewed how to use lab work to explore the various causes of anemia & how that can be applied to an anemia framework of: decreased production vs destruction vs. blood loss.


In this case, our patient had evidence of hemolysis and an inappropriately normal reticulocyte count indicating poor production.

This can be seen in certain instances when the patient has something that causes both. B12 is one of these conditions. The hemolysis actually occurs in the bone marrow when poorly formed RBCs (dyspoietic RBCs) are hemolyzed. 

Severe vitamin B12 deficiency mimicking thrombotic ...

Drs. Brown & Farris then presented a patient with a history of NO abuse presenting with altered mental status and nephropathy which was found to be due to acute onset severe B12 deficiency from NO abuse. 

Dr. Brown (& Dr. Nwaokocha did too!) reminded us of the importance of checking MMA and homocystine (which have sensitivities 96%+​) when considering this diagnosis as the levels of B12/folate in the blood are not reliable. To interpret these labs remember:
  • If both are elevated that = B12 deficiency ​
  • If MMA normal & homocystine elevated that = Folate deficiency 
Dr. Nwaokocha also proposed that to save money, you could consider simply checking MMA. 

We then reviewed the symptoms of B12 deficiency:
  • Anemia w/ jaundice 

  • Glossitis

  • Subacute combined degeneration of dorsal and lateral columns 

  • Peripheral neuropathy legs > arms 

  • Weakness 

  • Ataxia 

  • Paresthesias 

  • Impaired position and vibration sense 

  • Can progress to spasticity and paraplegia 

  • Cognitive changes; psychosis, dementia

  • Pernicious anemia 

  • Decreased PO intake 

  • Gastrectomy/bariatric surgery 

  • Pancreatic insufficiency, 

  • small intestine inflammation

  • Fish tapeworm

  • Meds

  • PPI, metformin, nitrous oxide

Dr. Brown also taught us about NO abuse (Whippits). NO is inhaled for a euphoric high.

Explainer: what is nitrous oxide (or nangs) and how dangerous is it?

SUB-SPECIALTY REPORT - New Onset Seizures

Dr. Hutfles presented a patient with reported new onset seizures. Thankfully, in the case of this patient, he simply had convulsive syncope and not true seizure activity. 

We addressed the work up in a patient with new onset seizures: neuro-imaging & EEG. LP is recommended only if infection is suspected. 



TEACHING SERVICE - MYOCARDITIS (forthcoming..)

Drs. Temte & Lu presented a young patient with sudden onset chest pain and NSTEMI with clean coronary arteries found to have new dilated cardiomyopathy thought 2/2 hypersensitivity myocarditis. 

Borrowed from Frameworks By Dr. Mansoor. 
Eosinophillic Myocarditis occurs due to infiltration of the myocardium by eosinophils this can be due to autoimmune disease, vasculitis, infections, or drugs. 

Similar to other kinds of acute myocarditis, eosinophillic myocarditis presents with acute onset heart failure. Definitive diagnosis is achieved with an endomyocardial biopsy or cardiac MRI. 

Unlike other kinds of acute myocarditis which are treated with standard GDMT for CHF,  eosinophillic myocarditis is treated with steroids.

Emma White

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