Cross Sectional Study of Bone Mass and Vitamin D Levels in Patients with Erythropoietic Protoporphyria

Presentation Number: SAT-256
Date of Presentation: June 15th, 2013

Federico G Hawkins1, Guillermo Martinez-Diaz-Guerra2, Gonzalo Allo*3, Rafael Enriquez de Salamanca3 and Maria del Carmen Garrido-Astray4
1Hospital I2 de Octubre, Madrid, Spain, 2Univ Hosp 12 de Octubre, Madrid, Spain, 3Hospital 12 de Octubre, 4European University of Madrid


Objetives: Erythropoietic protoporphyria (EPP) is a rare disease with cutaneous photosensitivity, in which patients avoid sun exposure & use sunscreen.  Our purpose was to study bone mineral density (BMD), serum 25-OHD levels and other mineral parameters, and to evaluate the impact of these measures in the follow-up of EPP patients.

Patients and methods: 10 EPP patients (median age 25; range 22-55, 4 male and 6 female), were studied for clinical features, biochemical values (bone markers: serum Osteocalcin, β-CTX & iPTH and 25-OHD) and lumbar and hip BMD (Hologic 4500 QDR) and serum porphyrins (total and free)

Results: Median serum 25(OH)D level was 19.65 ng/ml [17.50;24.80]. 4 patients had 25(OH)D in insufficiency range (20-30 ng/ml) and 5 patients in the deficiency range (<20 ng/ml). Lumbar T-score median levels were in the osteopenia range in both females (-1.50 [-2.30;-1.0]) and males (-1.90 [-2.40;-0.70]). Also in the female group femoral neck T-score were in the osteopenia range (-1.20 [-1.60;-0.60]). No correlation was found between levels of protoporphyrins and  bone markers, BMD or 25OHD.

Conclusions: We report that low bone mass and vitamin D deficiency are frequent in EPP. The contribution of sunlight avoidance measures to this results remains to be clarified. The monitoring of serum vitamin D levels and bone mineral density in EPP patients seems to be mandatory, adding vitamin D and calcium supplementation to their treatment protocol.


Nothing to Disclose: FGH, GM, GA, RE, MDCG