About Familial Chilblain lupus

What is Familial Chilblain lupus?

Familial Chilblain lupus (FCL) is an inherited autoimmune disorder that affects the skin. It is characterized by recurrent episodes of painful, itchy, and swollen patches on the skin, usually on the hands and feet. These episodes are often triggered by cold temperatures or stress. Other symptoms may include fatigue, joint pain, and Raynaud's phenomenon. FCL is caused by mutations in the gene encoding the protein PLCG2. Treatment typically involves avoiding cold temperatures and using medications to reduce inflammation.

What are the symptoms of Familial Chilblain lupus?

The most common symptoms of Familial Chilblain Lupus (FCL) include:

-Painful, itchy, red or purple patches on the skin, usually on the hands, feet, and face
-Painful, swollen joints
-Fatigue
-Fever
-Weight loss
-Hair loss
-Sensitivity to cold temperatures
-Raynaud's phenomenon (cold fingers and toes)
-Abnormal blood tests (such as anemia, low white blood cell count, and low platelet count)
-Kidney problems
-Lung problems
-Heart problems
-Neurological problems (such as seizures, headaches, and confusion)

What are the causes of Familial Chilblain lupus?

The exact cause of familial chilblain lupus (FCL) is unknown. However, it is believed to be an autoimmune disorder, meaning that the body’s immune system mistakenly attacks its own tissues. It is thought to be caused by a combination of genetic and environmental factors. Some research suggests that certain genetic mutations may be linked to FCL, while other studies suggest that exposure to certain environmental triggers, such as cold temperatures, may also play a role.

What are the treatments for Familial Chilblain lupus?

The main treatment for Familial Chilblain Lupus is to avoid cold temperatures and to keep the affected areas warm. Other treatments may include topical corticosteroids, antimalarial medications, and immunosuppressants. In some cases, phototherapy may be used to reduce inflammation. In severe cases, systemic corticosteroids may be prescribed.

What are the risk factors for Familial Chilblain lupus?

1. Family history of lupus or other autoimmune diseases
2. Female gender
3. Age between 10 and 30
4. Exposure to cold temperatures
5. Genetic predisposition
6. Certain medications, such as anticonvulsants and antibiotics
7. Smoking
8. Stress

Is there a cure/medications for Familial Chilblain lupus?

There is no cure for Familial Chilblain Lupus (FCL). Treatment focuses on managing symptoms and preventing flares. Medications used to treat FCL include nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, antimalarial drugs, and immunosuppressants.