Erythropoietic protoporphyria (EPP) has similar symptoms as X-linked dominant erythropoietic protoporphyria but the mutation occurs as a loss-of-function in the FECH (ferrochelatase) enzyme; the very last enzyme in the pathway. All individuals studied presented symptoms without mutations in the FECH enzyme. The patterns of inheritance led the researchers to conclude the mutation must come from an enzyme on the X-chromosome with ALAS2 being the most likely candidate. X-linked dominant erythropoietic protoporphyria is distinct from EPP in that there is no overload of Fe2+ ions. Additionally, unlike the other condition the arises out of a mutation of the ALAS2 gene, there is no anaemia. XDEPP is characterized by a buildup of protoporphyrin IX caused by in increased level of function in the ALAS2 enzyme. Because there is a buildup of protoporphyrin IX with no malfunction of the FECH enzyme, all the available Fe2+ is used in the production of heme, causing the FECH enzyme to use Zn2+ in its place,  causing a buildup of zinc-protoporphyrin IX. Diagnosis
See also
Hepatic porphyria

References


== External links ==
Acute pain may require absolute bed rest
Deep tissue massage to reduce tension in the gluteal muscles, most commonly the gluteus maximus. The tensor fasciae latae may also be implicated.For lower pain levels, treatment may involve having the patient:

Seek appropriate physical therapy, such as stretching and massage, which plays a large role in the management of pain
Learn to perform inguinal ligament stretching (from a physical therapist) which can rapidly relieve symptoms
Use rest periods to interrupt long periods of standing, walking, cycling, or other aggravating activity
Lose weight, and exercise to strengthen abdominal muscles
Wear clothing that is loose at the upper front hip area
Apply heat, ice, or electrical stimulation
Take nonsteroidal anti-inflammatory medications for 7–10 days
Remove hair in affected area (shave)
Lidocaine patches (after shaving area)
Titanium dioxide patches to interfere with the electrostatic effect of the nerves on the surface of the skinPain may take significant time (weeks) to stop and, in some cases, numbness persists despite treatment. In severe cases, the physician might perform a local nerve block at the inguinal ligament, using a combination of local anaesthetic (lidocaine) and corticosteroids to provide relief that may last several weeks.Pain modifier drugs for neuralgic pain (such as amitriptyline, carbamazepine or gabapentin) may be tried, but are often not as helpful in the majority of patients.Persistent and severe cases may require surgery to decompress the nerve or, as a last resort, to resect the nerve. The latter treatment leaves permanent numbness in the area. See also
References
External links

Meralgia Paresthetica at eMedicine.com