Overview
Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that combines the signs and symptoms of several other connective tissue diseases, primarily lupus, scleroderma, and polymyositis. It also often includes Sjogren's syndrome, which can make diagnosis challenging as the symptoms can develop gradually over time. The disease can affect various organs and systems in the body, and there is no cure. Treatment is focused on managing symptoms and addressing affected organs, with the severity of the disease and involved organs determining the approach.
Understanding the disease
Symptoms
The symptoms of mixed connective tissue disease (MCTD) can vary, but they often involve a combination of symptoms from disorders such as lupus, scleroderma, and polymyositis. Early signs and symptoms can include puffy fingers that become white and numb in response to cold exposure, anemia, tissue death, and hearing loss. Later stages may involve organs such as the lungs, heart, and kidneys. Other symptoms may include high blood pressure in the lungs, interstitial lung disease, heart disease, kidney damage, digestive tract damage, and nerve damage. It's important to note that the symptoms generally develop over a number of years, which can complicate diagnosis.
Development
Mixed connective tissue disease (MCTD) develops as a combination of disorders, primarily lupus, scleroderma, and polymyositis. The symptoms of these separate diseases tend to occur gradually over several years, which can complicate diagnosis. The exact cause of MCTD is not known, but it is considered an autoimmune disorder, where the immune system mistakenly attacks healthy cells. Genetics may play a role in the development of MCTD, as some people with the condition have a family history. Women under 50, particularly those with a genetic predisposition, may be more likely to develop the disease.
Assessment and Diagnosis
Triage
You should see a doctor if you have signs and symptoms of mixed connective tissue disease (MCTD) that interfere with your daily routine, particularly if you have been diagnosed with lupus or another connective tissue disease.
Diagnosis
To diagnose mixed connective tissue disease, a doctor will typically begin with a physical exam, checking for swollen hands and painful, swollen joints. They may also request a blood test to check for a specific antibody associated with the condition. A combination of symptoms and family history must be present to confirm a diagnosis. Imaging tests, such as X-rays and MRIs, may also be recommended to provide more information and rule out other conditions.
Management and Treatment
Complications
The potential complications of mixed connective tissue disease include:
- High blood pressure in the lungs (pulmonary hypertension), which can be fatal.
- Interstitial lung disease, leading to scarring in the lungs and affecting breathing.
- Heart disease, including enlarged heart parts and inflammation around the heart, which can result in heart failure.
- Kidney damage, which can progress to kidney failure.
- Digestive tract damage, causing abdominal pain, swallowing and digestion problems.
- Anemia, with approximately 75% of people with mixed connective tissue disease having iron deficiency anemia.
- Tissue death, leading to gangrene in the fingers in severe cases of Raynaud's disease.
- Hearing loss, reported in almost half the patients with mixed connective tissue disease, although further research is needed to understand the association.
- Nerve damage, affecting the trigeminal nerve and causing severe pain in response to mild stimulation of the face.
Treatment
The treatment for mixed connective tissue disease depends on the severity of the disease and the symptoms. Medications that can be used to manage the signs and symptoms include corticosteroids, antimalarial drugs, calcium channel blockers, and other immunosuppressants. Additionally, nonsteroidal anti-inflammatory drugs (NSAIDs) and biologic or targeted synthetic disease-modifying anti-rheumatic drugs (DMARDs) may also be prescribed. It is essential to work closely with a healthcare professional to determine the best treatment plan for an individual case.
Preparing for medical consultation
To prepare for an appointment for mixed connective tissue disease, you should:
- Make a list of your symptoms and when they began, including any symptoms that don't seem related to the reason for your appointment.
- Create a list of all medicines you take, including medicines you buy without a prescription, vitamins, herbs, or other supplements, and note the dose.
- Write down questions to ask your doctor, such as the best course of action, the expected duration of medications, and how to manage the disease with diet and lifestyle changes.
- Bring a family member or friend along to help you remember the information you receive during the appointment.
- Be aware of any pre-appointment restrictions, such as fasting requirements or dietary limitations.
- Gather your medical history, including other diagnosed conditions and key personal information like recent changes or stressors in your life and a detailed description of your typical daily diet.
- Don't hesitate to ask questions during the appointment, and inquire about brochures or printed materials to take home. Expect your doctor to ask questions about the onset and progression of your symptoms, any related medical conditions, and any recent changes in your life. They may also discuss diagnostic tests, treatment options, and potential restrictions or specialist referrals.