Awareness - The key to Diagnosing a Rare Disease. Erythropoietic Protoporphyria as an Example

Background: Eryhropoietic protoporphyria (EPP) is a form of porphyria caused by pathogenic variants in the FECH gene, which lead to deficient activity of the ferrocheletase enzyme that catalyzes the terminal step in heme biosynthesis. As a result, accumulation of protoporphyrins ensues in the bone marrow, red blood cells, blood plasma, skin and liver, causing extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen.

EPP is an ultra-rare complex chronic disease, which can be difficult to diagnose. Patients with rare diseases very often withstand, throughout the years, countless tests and endless specialist appointments on the way to diagnosis and treatment.

Case Summary: Here we report a seven year-old girl who presented with recurrent episodes of edema, petechiae and pruritus in her hands, feet and face accompanied by excruciating pain.

Interestingly, a post in the public social media published in a female doctors group, was the initial building block that raised the awareness of the fellow about this disease.

Careful anamnesis, together with higher awareness regarding EPP permitted solving this 5 year enigma. An important diagnostic clue was exposure to light preceding the symptoms. Ad-hoc serum samples were evaluated for protoporphyrins and were consistent with the diagnosis of EPP.

Conclusion: We report the importance of raising awareness of rare diseases on all available platforms and to medical professionals on a wide spectrum. Awareness and gained knowledge may alter the way we ask, listen, examine and think about each individual patient, and serve to shorten the diagnostic odyssey.