Disease is a rare chronic systemic autoimmune disease that shares symptoms and characteristics with other systemic autoimmune diseases. • Autoimmune diseases meaning the immune system mistakenly attacks itself • It overlaps with at least two other autoimmune diseases typically Scleroderma, Lupus, and Polymyositis. (Sapkota, Binita; Yasir Al Khalili, 2)
causes include: Environmental factors • Exposure to RNP molecules during cell decay or death make the immune system mistake RNP molecules as a threat since they are usually hidden in the cell's nucleus. • Exposure to other substances that are similar to disease causing cells like certain viruses or chemicals. Genetics • Genes that influence the immune system and ability to hide cell decay or death. Molecular Mimicry • The body mistakenly attacks its own cells when foreign proteins mimic the same structure of the proteins inside the body. 6/5/2025 3 (Sherrel, Zia)
it then men Age • Most common under people aged 50, usually in their 20's or 30's Family • Family history of connective tissue diseases Genes • HLA genes 6/5/2025 4 ("Mixed Connective Tissue Disease- Symptoms, Causes, and Treatment- Cleveland Clinic").
with blood tests like an ENA (Extractable Nuclear Antigen) test which checks for antibodies associated with the disease. • Doctors look for the anti-U1 ribonucleoprotein (RNP) antibody • Blood tests can check for the inflammatory markers and the function of the kidney. • Physical examinations can be done which is an examination of apparent symptoms. • Other tests can be done based on symptoms and organs involved. Since MCTD has overlapping symptoms with other connective tissue diseases, it makes the diagnosis process challenging. It may take even years for doctors to diagnose that the symptoms are related to MCTD. ("Mixed Connective Tissue Disease", 2025).
Issues: • Raynaud's phenomenon- fingers or toes turn white or blue due to cold or stress • Skin rashes • Scleroderma--hardening of the skin Lungs & Heart Symptoms: • Shortness of breath • Chest pain • Pulmonary hypertension ("Mixed Connective Tissue Disease- Symptoms, Causes, and Treatment- Cleveland Clinic.")
autoimmune response • Occurs when the body's own immune system mistakenly attacks the healthy cells and tissues within. • The immune system malfunctions since its purpose is to protect them against dangerous foreign invaders like viruses. • The autoimmune response causes the immune system to lose its ability to differentiate between the body's healthy cells and the dangerous ones. • The exact causes or triggers are unknown (Lopaz, Irene).
able to live with it with proper treatment • Impact and severity varies by person and symptoms. Impact on organs • Autoimmune attacks can involve other organs • In later stages, it affects most commonly the lungs, heart, and kidneys. • Organ involvement may cause complications Emotional impact: • Sadness • Discouragement (Sherrel, Zia).
maintains muscle strength • Sun protection • Stress management- reduces flare ups • Healthy diet (rich in protein & anti-inflammatory foods) • Protect your hands from the cold • Cold therapy • Rest • Hydration • Smoking avoidance • Sufficient sleep Important to Note: Treatment for the patient varies by symptoms present and the severity of it ("Mixed Connective Tissue. Diagnisis and Treatment- Mayo Clinic")
Triggers: • Pregnancy • Stress • Changes in medication • Cold exposure Ways to treat: • Follow the treatment plan the doctor has provided ((Madieh et al.))
online • Share educational content online • Organize information sessions • Host fundraisers and campaigns • Donate or volunteer to organizations that support MCTD Importance: • Helps improve research funding and creates a supportive community for those with MCTD • Also helps the people gain a better understanding of MCTD which reduces stigma
treatment, and patient care. • The quality people with MCTD are being treated with will improve • Research will give MCTD a better definition as a disease • Will give a better understanding of causes, triggers, and risk factors • Will develop more targeted therapies • It's always important to give more attention to under researched diseases like MCTD
Pattern of Mixed Connective Tissue Disease in Sudanese Patients at Omdurman Military Hospital: Hospital-Based Study.” Open Access Rheumatology Research and Reviews, vol. Volume 13, 1 Dec. 2021, pp. 333–341, https://doi.org/10.2147/oarrr.s335206. Accessed 26 May 2025. • Lopez, Irene. “What Is Mixed Connective Tissue Disease (MCTD)?” WebMD, www.webmd.com/lupus/what-is- mixed-connective-tissue-disease. • Madieh, Jomana, et al. “Scleroderma Renal Crisis in a Case of Mixed Connective Tissue Disease Treated Successfully with Angiotensin-Converting Enzyme Inhibitors.” Case Reports in Nephrology, vol. 2021, 6 Jan. 2021, pp. 1–6, www.verywellhealth.com/mixed-connective-tissue-disease-flares-5112012, https://doi.org/10.1155/2021/8862405. Accessed 28 May 2025. • Mayo Clinic Staff. “Mixed Connective Tissue Disease - Symptoms and Causes.” Mayo Clinic, 25 May 2022, www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/symptoms-causes/syc-20375147. • “Mixed Connective Tissue Disease.” Hospital for Special Surgery, 2025, www.hss.edu/condition-list_mixed- connective-tissue-disease.asp. Accessed 26 May 2025. • “Mixed Connective Tissue Disease - Diagnosis and Treatment - Mayo Clinic.” Mayoclinic.org, 2018, www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/diagnosis-treatment/drc-20375152. 6/5/2025 20
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