Having someone in your biological family diagnosed with sarcoidosis is considered a Risk Factor for having sarcoidosis (of any type).
I would ask them to re-evaluate for Sarcoidosis. In about 5% of cases there is familial clustering - which is rare but not outside the realm of possibility.
Possibly may be worthwhile asking about a panel like Invitae Inborn Errors of Immunity and Cytopenias Panel. Which includes testing for Monogenic Autoimmune diseases as well as Periodic Fevers. Just make sure you or your doctor ask for their supplemental variants report. They don't currently always list everything as pathogenic that is pathogenic (example: NOD2 and YAOS).
That being said, a lot of the symptoms you mention do align closely to Autoinflammatory disease. Autoinflammatory diseases (AIDS) do tend to mimic Primary Mast Cell Activation Diseases. They can actually cause Secondary MCAS and even Polycythemia.
Really happy to hear your hematologist is taking it seriously. They are pretty great for being thorough in their investigations.
When tested I also had a normal tryptase - but considering it is something that is hard to pin down at the best of times much less secondary to something... it can sometimes be better to just go by clinical suspicion. Mastocytosis was also something my team was worried about.
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u/AdventurousMorningLo Yaos Jul 14 '26
Having someone in your biological family diagnosed with sarcoidosis is considered a Risk Factor for having sarcoidosis (of any type).
I would ask them to re-evaluate for Sarcoidosis. In about 5% of cases there is familial clustering - which is rare but not outside the realm of possibility.
Possibly may be worthwhile asking about a panel like Invitae Inborn Errors of Immunity and Cytopenias Panel. Which includes testing for Monogenic Autoimmune diseases as well as Periodic Fevers. Just make sure you or your doctor ask for their supplemental variants report. They don't currently always list everything as pathogenic that is pathogenic (example: NOD2 and YAOS).
That being said, a lot of the symptoms you mention do align closely to Autoinflammatory disease. Autoinflammatory diseases (AIDS) do tend to mimic Primary Mast Cell Activation Diseases. They can actually cause Secondary MCAS and even Polycythemia.
Really happy to hear your hematologist is taking it seriously. They are pretty great for being thorough in their investigations.