1/
It all started with debilitating fatigue.
@rabihmgeha and I present this very important case.
An astute diagnostician can be the difference between life and death.
It all started with debilitating fatigue.
@rabihmgeha and I present this very important case.
An astute diagnostician can be the difference between life and death.
2/
He was 68 years old when he suddenly felt fatigued. He no longer could garden or play with his dog.
It worsened day by day. His wife brought him to the ED.
He was 68 years old when he suddenly felt fatigued. He no longer could garden or play with his dog.
It worsened day by day. His wife brought him to the ED.
3/
Your approach to fatigue should be to seek any other higher yield diagnostic symptom. Especially, fatigue worsened with exertion.
The fact his fatigue was sudden in onset the likelihood of finding an acute medical condition increased significantly.
Your approach to fatigue should be to seek any other higher yield diagnostic symptom. Especially, fatigue worsened with exertion.
The fact his fatigue was sudden in onset the likelihood of finding an acute medical condition increased significantly.
4/
He felt lousy at rest but even worse with movement. All the sudden the framework of exceptional dyspnea is relevant.
Heart, lung, or hgb.
His CV and lung exam were completely normal at rest and with exertion.
He felt lousy at rest but even worse with movement. All the sudden the framework of exceptional dyspnea is relevant.
Heart, lung, or hgb.
His CV and lung exam were completely normal at rest and with exertion.
5/
Labs revealed significant pancytopenia. Not mild but significant. You can now forget about the fatigue from diagnostic lens and focus on finding the cause of pancytopenia.
Labs revealed significant pancytopenia. Not mild but significant. You can now forget about the fatigue from diagnostic lens and focus on finding the cause of pancytopenia.
6/
Pancytopenia is a very difficult topic to create a systemic approach. And the ddx is influenced by tempo (often not knows and symptoms used as surrogate), peripheral smear, reticulocyte index, and whether there is pathology anywhere else. But letโs break it down.
Pancytopenia is a very difficult topic to create a systemic approach. And the ddx is influenced by tempo (often not knows and symptoms used as surrogate), peripheral smear, reticulocyte index, and whether there is pathology anywhere else. But letโs break it down.
7/
The first step is whether it an issue within the periphery (systemic) or pathology at bone marrow. Odds are there is an issue with the bone marrow.
The first step is whether it an issue within the periphery (systemic) or pathology at bone marrow. Odds are there is an issue with the bone marrow.
8/
Peripheral causes include immune mediated destruction of all cells (SLE) or splenomegaly. Be caution even if the patient had splenomegaly it still doesnโt put bone marrow path off the hook (lymphoma can infiltrate both).
Peripheral causes include immune mediated destruction of all cells (SLE) or splenomegaly. Be caution even if the patient had splenomegaly it still doesnโt put bone marrow path off the hook (lymphoma can infiltrate both).
9/
The fast tempo in his case makes a peripheral process possible but he only had fatigue lowering the likelihood of wide spread systemic process like tick borne disease.
The fast tempo in his case makes a peripheral process possible but he only had fatigue lowering the likelihood of wide spread systemic process like tick borne disease.
10/
For BM processes think of Rabihโs Ss - substance deficiency (b12), substance suppression (ETOH), space occupying lesion (granuloma) or stem cell disorder (aplastic anemia). This is not perfect as some causes might do both like leukemia (space occupying and stem cel disorder).
For BM processes think of Rabihโs Ss - substance deficiency (b12), substance suppression (ETOH), space occupying lesion (granuloma) or stem cell disorder (aplastic anemia). This is not perfect as some causes might do both like leukemia (space occupying and stem cel disorder).
11/
His smear should low retic and tear drop cells. The marrow is literally CRYING because something is crowding it out. For all with pancytopenia send cbc with diff, CMP, TLS labs, ldh, smear, retic, and the Hs (hiv, hcv, hbv).
His smear should low retic and tear drop cells. The marrow is literally CRYING because something is crowding it out. For all with pancytopenia send cbc with diff, CMP, TLS labs, ldh, smear, retic, and the Hs (hiv, hcv, hbv).
12/
His ldh and uric acid were elevated. These are the earliest signs of TLS. Now take a dx pause. What are the salient feature?
His ldh and uric acid were elevated. These are the earliest signs of TLS. Now take a dx pause. What are the salient feature?
13/
68 yo, acute onset, pancytopenia, TLS. Now leukemia or lymphoma becomes most likely. A solid cancer can do this too but he had no evidence of disease elsewhere.
68 yo, acute onset, pancytopenia, TLS. Now leukemia or lymphoma becomes most likely. A solid cancer can do this too but he had no evidence of disease elsewhere.
14/
In adults AML is most common. And the subtype most likely to cause pancytopenia is APL because promyelocytes tether themselves to marrow those rarely do you see these cells in the periphery.
In adults AML is most common. And the subtype most likely to cause pancytopenia is APL because promyelocytes tether themselves to marrow those rarely do you see these cells in the periphery.
15:
The tap is unsuccessful. Ddx fibrosis but also technical issue or too many cels like AML. All the sudden you look at his first INR and PTT and both were elevated. In the absence if sepsis, pancytopenia and DIC are APL until proven otherwise.
The tap is unsuccessful. Ddx fibrosis but also technical issue or too many cels like AML. All the sudden you look at his first INR and PTT and both were elevated. In the absence if sepsis, pancytopenia and DIC are APL until proven otherwise.
16/
APL is a death sentence without treatment but curable with treatment. At this hematology must decide whether to empirically treat. I think most would. The treatment is ATRA because the fusion protein from 15:17 translocation inhibits retinoic acid. Arsenic also bind the inhibitory protein.
APL is a death sentence without treatment but curable with treatment. At this hematology must decide whether to empirically treat. I think most would. The treatment is ATRA because the fusion protein from 15:17 translocation inhibits retinoic acid. Arsenic also bind the inhibitory protein.
17/
Pancytopenia worsens and coagulopathy worsens. Now itโs time for empiric treatment. Interventional radiology performs biopsy and APL is confirmed with FISH.
Pancytopenia worsens and coagulopathy worsens. Now itโs time for empiric treatment. Interventional radiology performs biopsy and APL is confirmed with FISH.
18/
The power of clinical reasoning at full display. The astute clinicians saved his life. I was not part of that team. โค๏ธ@rabihmgeha
The power of clinical reasoning at full display. The astute clinicians saved his life. I was not part of that team. โค๏ธ@rabihmgeha
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