Erythromelalgia

My first patient with a known history of Erythromelalgia recently came in with significant foreign body sensations. Her meibography is below. Her meibomian gland atrophy and surrounding scar tissue explain her symptoms. She has tried warm compresses, lid hygiene, blinking, massaging, artificial tears, cyclosporine, lifitegrast (Xiidra) with little improvement. We will now try serial IPLs, meibomian gland probing, and PRPs preservative-free eye drops to see if we can save her meibomian glands and stabilize her inflammation which is leading to worsening symptoms with aging. 

Erythromelalgia is a rare neurovascular (neurological and vascular) condition which can in some cases result from an underlying condition, such as a blood disorder or myeloproliferative disorders (e.g., polycythemia vera, essential thrombocythemia), nerve damage (ie, small fiber neuropathy, peripheral neuropathy,) multiple sclerosis (MS), autoimmune disorders, or certain medications.

Also known as Mitchell's disease, erythermalgia, though uncommon can cause painful vascular symptoms characterized by episodes of intense burning pain, redness (erythema), and heat in the extremities, like the feet and sometimes the hands. 

Erythromelalgia is often triggered or made worse by heat, physical activity, or even emotional stress. The pain and redness can be very debilitating and can interfere with daily activities. It can be mistaken for Mastocytosis which can have similar presenting symptoms.

Symptoms of Erythromelalgia (BIISHES): 

1. Burning pain/burns: The primary symptom is severe burning pain: often described as a sensation of heat or pins and needles in the affected areas. 

2. Increased skin temperature: Affected skin areas feels warmer than usual. 

3. Itching: Itching is also reported by some individuals during episodes. 

4. Swelling: In some cases,  swelling of the affected areas can be present.

5. Heat sensitivity: Heat can trigger or worsen the symptoms. 

6. Erythema/Redness: The affected areas become intensely red, reflecting increased blood flow to the skin. 

7. Swelling: In some cases,  swelling of the affected areas can be present.

Erythromelalgia can be classified into two forms: 

1.  Primary erythromelalgia: This form is believed to be caused by genetic mutations that affect sodium channel function in nerves. These mutations result in abnormal nerve activity, leading to the above BIISHES symptoms. 

2. Secondary erythromelalgia: This form can be associated with other underlying medical conditions such as myeloproliferative disorders (e.g., polycythemia vera, essential thrombocythemia), small fiber neuropathy, autoimmune disorders, or certain medications. 

Treatment for erythromelalgia:

1. Manage symptoms and triggers, as there is no cure. 

2. Get a meibography asap: at first signs of eye symptoms & start IPL, PRP eye drops if non-preserved tears, Xiidra, Restasis/Cequa do not help. 

3. Keeping affected areas cool: Cooling the feet or hands, such as using cool water or ice packs, can help alleviate symptoms during episodes. 

4. Avoiding triggers: Identifying and avoiding triggers like warm temperatures, hot drinks, or activities that induce stress on the body can reduce the frequency and intensity of episodes. 

5. Medications: Certain medications may be prescribed to help manage symptoms, such as vasodilators, calcium channel blockers, or nerve pain medications.