1/11
A young woman presents with bleeding from her nose and gums and the following skin rash.
2/11
Petechiae are pinpoint hemorrhages <2 mm in size, purpura are 2 mm to 1 cm, and ecchymoses are >1 cm. Our patient has all three. These lesions are the result of extravasation of blood from the vasculature into skin/mucosa and do not blanch, as shown in this video:
3/11
A platelet disorder could explain these symptoms and physical findings.
But is the platelet issue qualitative (platelets are normal in number but abnormal in function) or quantitative (platelets are normal in function, but abnormal in number)?
4/11
A CBC can sort us out.
5/11
Now that we know we are dealing with thrombocytopenia, our next question is... are platelets not being produced appropriately, or are they being destroyed?
6/11
Well there's a test for that too.
Immature platelets = newly released platelets.
The immature platelet fraction is like an RBC reticulocyte count. If low/normal, there is decreased platelet production; if elevated, there is increased platelet destruction.
7/11
The elevated immature platelet fraction tells us we are dealing with a process causing platelet destruction.
The bone marrow is responding appropriately and cranking out platelets, it just can't keep up.
8/11
So what's our diagnosis?
9/11
The degree of thrombocytopenia (1!) narrows our differential to TMA and HIT. The absence of concomitant hemolytic anemia points us to the right diagnosis:
10/11
ITP is an acquired d/o characterized by autoantibody-mediated platelet destruction. It can be primary or secondary (eg, SLE). In adults, it's often a chronic condition. In our case, @Bloodman recommended steroids + IVIG and our patient's platelet count has recovered nicely.
11/11
If you liked how we approached platelet disorders to arrive at the diagnosis in this case, you might like #FrameworksForInternalMedicine
1/11
A 44 y/o man presents with acute abdominal pain, vomiting, and diarrhea. HR 130, BP 90/52. We walk into the room to meet the patient. What do you notice? This should generate at least one hypothesis.
2/11
We ask the patient for an old photograph for comparison. His wife pulls out her phone and produces this picture (B) taken about 10 years prior. Pt reports darkening of skin over an 8 year period. What conditions should we consider?
3/11
Let’s consider the hypotension. Physical examination is key in determining which “category” of hypotension we are dealing with. How can physical exam help?
1/10
A middle-age man presents with dyspnea on exertion, orthopnea, and weight gain. His BP is 112/40. This should generate a hypothesis. And we begin to test our hypothesis by evaluating for specific physical findings. What clue is present in this video?
2/10
The presence of de Musset’s sign (to-and-fro head bob) is consistent with our hypothesis. So we look for more evidence.
3/10
And we find it in the form of Corrigan’s pulse. We continue to evaluate the peripheral pulses and find more evidence to support our hypothesis.
1/5 @PeteSullivanPDx and I need help with a patient. Never seen anything like it.
In short, there is severe hepatic protein synthesis dysfunction in the absence of cirrhosis, 60 y/o M.
Hepatologists, geneticists, protein biochemists, others?
Please read on for details.
2/5 Presents with anasarca developing over years, now much worse x4-5 weeks. Has severe hypoalbuminemia (album 1.0). No proteinuria. No stool loss (stool alpha-1 <5, low clearance). Not malnourished. Nodular liver on imaging but no cirrhosis x2 biopsies, no portal hypertension.
3/5 Liver bx: diffuse hepatocellular swelling with megamitochondria
INR up despite vit K. Mixing study neg. AST/ALT <3, prealbumin, albumin, all low. Total protein <3. Immunoglobulins only protein in nml range (not made by liver). Zinc/copper low but 2/2 low binding proteins?