Rare Disease Day: A look at dermatomyositis

Lachen, Switzerland
Patient stories

There are over 6,000 different rare diseases affecting more than 300 million people globally. Very few of these diseases currently have an approved treatment.1

To mark Rare Disease Day on February 28, we take an in-depth look at one such disease which Octapharma has had an important impact on as part of its commitment to helping patients around the world who are suffering with rare diseases: dermatomyositis.

The approval given to Octapharma’s intravenous immunoglobulin (IVIg) therapy in 2021 marked a significant milestone in improving the lives of adults with dermatomyositis, a rare autoimmune disorder of unknown cause that affects about 20 – 90 people per million globally. Autoimmune disorders cause the body’s immune system to attack its own cells and tissues, and dermatomyositis is a rare inflammatory disease marked by muscle weakness and a distinctive skin rash.

Affecting more females than males, dermatomyositis usually occurs in adults in their late 40s to early 60s, but it can also be found in children typically between the ages of 5 and 15 years.

The path to diagnosis

For Eva, the journey to her dermatomyositis diagnosis began in 2014, when a rash appeared on her thighs and she then started feeling fatigue and muscle weakness. Initially, she was not so much misdiagnosed as not diagnosed at all. Everyone saw her as a generally healthy woman and whatever the pain she was suffering was, they were sure it would pass.

As a doctor herself, Eva’s intuition told her otherwise. After looking at the results of a blood test she’d had as part of a health assessment for her new job in a fertility clinic, she noticed higher liver enzyme levels and started searching for answers.

“I remember wondering whether it could be dermatomyositis, but I didn’t have anyone around to check with, so I put that thought to the back of my mind,” she recalls.

Finally, Eva went to see a fellow doctor in her new hospital and was sent directly to the rheumatology clinic, where she was to learn much more about dermatomyositis and begin her treatment with Octapharma’s intravenous immunoglobulin (IVIg) therapy, which, in 2021, became the first treatment to be approved for dermatomyositis in the EU, the USA and Canada.

Read her full story here.

Dermatomyositis complications2

In addition to being characterised by progressive muscle weakness and/or a characteristic skin rash, other complications can also present:

  1. Cardiac - Arrhythmias or defects in ejection fraction may be present but are rare, as well as pericarditis, myocarditis and congestive heart failure.

  2. Pulmonary - Interstitial lung disease is common, manifesting in a non-productive cough and breathing problems. This is the leading cause of death among dermatomyositis patients.

  3. Gastrointestinal - Gastrointestinal complications can occur, such as dysphagia, impaired gastric motility, aspiration pneumonia and bleeding due to vasculopathy of the gut.

  4. Malignancy - Commonly associated cancers include ovarian, breast, colon, nasopharyngeal, melanoma, and non-Hodgkin’s lymphoma.

  5. Joints - Joint stiffness is a common complication.

Manage Dermatomyositis Information Hub

Learn more about dermatomyositis in our information hub. The website is for HCPs only.

Diseases & therapies

Patient stories