New, Rare, and Thankfully Treatable Autoimmune Muscle Disease Identified

Doctor Alan Pestronk has identified a new and very rare autoimmune disease. He is now trying to spread the word about its existence to other doctors in an effort to ensure patients with the condition receive the proper care. He explains that if the autoimmune nature of the disease is not known to the treating physician, patients will not receive the treatment they need.

The condition is called large histiocyte-associated myopathy (LHIM). Currently, only four patients have been identified as having the disease.


Doctor Pestronk actually identified the disease back in 1996 when he evaluated a patient who was experiencing muscle weakness as well as pain. He uncovered immune scavenger cells called histiocytes within the muscle fibres. In other words, the patient’s immune system was attacking the tissue.

What he saw under the microscope was so unusual that he kept it in his memory. Since that time, he has uncovered 3 more individuals who showed the same histiocyte presentation. All four of the patients he identified had the same symptoms. These included-

  • Sudden onset of severe muscle pain
  • Progressive, symmetric, proximal muscle weakness
  • Anaemia
  • High levels of serum creatine kinase
  • Histiocyte-associated muscle fibre necrosis

This condition presents similarly to rhabdomyolysis with similar blood results and levels of creatine kinase. However, the treatment for these two conditions is entirely different.

LHIM needs to be treated with immunomodulating therapy. Three of the patients that Dr. Pestronk identified were treated with this form of therapy and all three improved within 3 months of the treatment. Since treatment, none of these individuals have relapsed.

Sadly, the fourth patient passed away from cancer, which he was diagnosed with at the same time as his LHIM.

Ultimately, Dr. Pestronk’s findings are so important because, as the knowledge of them spreads, they should help more patients receive the care and outcomes they need and deserve.

Dr. Pestronk’s findings were published in Neurology.

You can read more about his research and LHIM here

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