ON MENTORSHIP AND GUIDANCE
True mentors want you to succeed and are guided by your interests rather than theirs. A good mentor has “been around” and knows things you don’t, including which rules can be broken and which ones cannot. The best mentors will sometimes tell you things you don’t want to hear. Time often proves them right.
David Juurlink, Advice for Physicians in Training: 40 Tips From 40 Docs, The Winnower 2:e142006.67645 (2014). DOI: 10.15200/winn.142006.67645
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- FMF classically presents with unprovoked, recurrent attacks of fever and painful polyserositis mainly affecting the peritoneum (most common), synovium, and pleura that usually (but not always) begin in childhood.
- Acute episodes may last from 24 to 72 hours and have variable frequency, often without a recognized triggering event.
- Commonly reported precipitating causes include viral illness, emotional stress, excessive/intense physical activity, high-fat diet, extremes of temperature, and menstruation in women.
- Half of the affected individuals report experiencing a prodrome of discomfort and/or psychological uneasiness up to 24 hours before the actual attack.
- Fevers are generally accompanied by abdominal (most common), chest, or joint pain; thus, the attacks resemble peritonitis, pleuritis, or synovitis (depending on the serous membrane involved) from other causes, which is the reason for frequent misdiagnosis, exploratory surgery, and unnecessary appendectomies.
- Skin manifestations include erysipelas-like lesions that are reminiscent of cellulitis and cluster unilaterally on the extensor surfaces of the leg or over the ankles and/or dorsum of the foot.
- In untreated individuals, the risk of amyloidosis (SAA type) is arguably the most significant complication of this condition.
- Decreased fertility by oligospermia/azoospermia in men or by peritoneal inflammatory exudate leading to fibrous abdominal and ovarian adhesions noted in some affected women.
- Intermittent intestinal obstruction
- The patient’s medical history, family history, ethnicity, and physical examination findings are the most salient entities.
- Labs reveal an increase in acute phase reactants such as C-reactive protein, fibrinogen, erythrocyte-sedimentation rate, and increased white blood cell count with neutrophilia.
- Molecular genetic diagnostic testing is used to provide a confirmation of the FMF diagnosis as it is obviously more specific than the other laboratory analytes such as erythrocyte-sedimentation rate and C-reactive protein.
Treatment: centered on prevention of painful attacks and the development of amyloidosis.
- Colchicine is the gold standard and indeed the only recommended drug for treating FMF. It is thought to primarily concentrate in neutrophils and inhibit their increased chemotactic activity during FMF attacks.
- NSAIDS: may be used to expectantly treat fever and pain, although it is not always effective. Before a definitive diagnosis, many patients with intractable pain are given steroids or narcotics; although these drugs do provide temporary relief, we do not recommend them for long-term use, for obvious reasons: aside from their well-known side effects, they are not useful in preventing the one fatal complication of FMF, amyloidosis.
Genetics in Medicine (2011) 13, 487–498; doi:10.1097/GIM.0b013e3182060456
Case Challenge #3 presented a 19 year old white male is admitted with acute onset fever and abdominal pain. He was noted to have multiple recurrences over last 10 years, with each episode resolving in 3-4 days. On exam, he had a fever of 102.2F and peritoneal signs on exam. Labs revealed WBC 17k and a normal CTAP.
Which test is most likely to provide the diagnosis?
A) Measurement of C4 and C1 inhibitor levels
B) ANA and ENA panel
C) Colonoscopy with random biopsies
D) 24 hour urine collection for urine porphyrins
E) MEFV gene sequencing
Here are the results of the voting:
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The diagnosis is Familial Mediterranean Fever, and the MEFV gene sequencing is most likely to provide the diagnosis.
- Autosomal recessive disorder marked by episodic febrile attacks with serositis (peritonitis, pleuritis, arthritis)
- Mutations in MEFV gene leading to ineffective pyrin regulation of inflammation
- Ethnic predisposition: Armenians, Sephardic and Ashkenazi Jews, Turks, Greeks, N. Africans
- Rx: Colchicine
Look forward to a more extensive review on Familial Mediterranean Fever!
– Digoxin toxicity presents with nausea, vomiting, abdominal pain, visual disturbances, and symptoms of arrhythmia.
– It can cause ANY arrhythmia EXCEPT rapidly conducted atrial arrhythmias (like atrial flutter with a fast ventricular response).
– Three typical digoxin toxic rhythms are: Atrial fibrillation with a slow ventricular response, atrial tachycardia with 2:1 block and bidirectional ventricular tachycardia.
– Hypokalemia and hypercalcemia potentiate digoxin toxicity.
– Since digoxin acts by blockage of the sodium/potassium ATPase pump, digoxin toxicity can result in hyperkalemia.
– Calcium should NOT be given intravenously when the potassium is high related to digoxin toxicity as this theoretically could cause serious arrhythmia since hypercalcemia potentiates the actions of digoxin (end-point of digoxin mechanism is opening Ca channels allowing increased Ca influx, this IV calcium markedly would increase Ca inclux). There is little evidence to support this theory.
– Digoxin toxicity can cause “xanthopsia” or yellowing of the vision which the artist Vincent Van Gogh was thought to suffer from toward the end of his life (he was using Foxglove to treat a seizure disorder).