#autoinflammatory disease

[tenth-sentence]

For instance, familial Mediterranean fever, an autoinflammatory disease, has been linked to genetic variants that arose because they confer some protection against the plague.

"Plagues Upon the Earth: Disease and the Course of Human History" - Kyle Harper

[spooniestrong]

[alessiaannathings-blog]

A rare complex mutation in FMF gene; genetics and treatment decisions in Familial Mediterranean Fever patients

FMF is an autosomal-recessive autoinflammatory disease characterized by episodic, self-limiting attacks characterized by fever, abdominal pain, pleurisy, arthritis and erysipelas-like-erythema. Most patients remain free from fever and inflammation in between the episodes. Systemic amyloidosis is the most severe manifestation of the disease. It results from amyloid protein-A deposition, commonly affecting the kidneys and sometimes adrenal glands, intestine, spleen, lungs and testis.  Ethnicity appears to contribute to the risk of developing amyloidosis, with reported higher frequency in Sephardic Jews of North African ancestry, particularly in comparison to Ashkenazi Jews. The ability to use genetic testing recently allowed us to make a determination whether prophylactic versus intermittent colchicine was most appropriate for a patient with a Sephardic father and Ashkenazi mother.  

[spooniestrong]

August is Autoinflammatory Disease Awareness Month 💙

[amaislovelly]

hey spoonies...

Has anyone else been on canakinumab? I’ve been on it about three months, and while the doc seemed to think it would magically cure me, it hasn’t.Lymph nodes are still enormous, still having nightly high fevers, and my bones still feel like they’re shattering inside me. Like puking, sobbing on the bathroom floor levels of pain. The recent cold front hasn’t improved this any. My joints are so swollen they’re bruising. And I still have my rash that's makes people freak out and not want to touch me. It’s not contagious, folks, I promise. (The canakinumab is for CAPS, an autoinflammatory disease, which of course came with a metric shit ton of comorbidities. Of course.) Any help would appreciated. Help?