Osteoporosis in patients with erythropoietic protoporphyria

Biewenga, Maaike; Matawlie, R.H.S.; Friesema, Edith C. H.; Koole-Lesuis, H.; Langeveld, Mirjam; Wilson, J. H. P.; Langendonk, Janneke G.

doi:10.1111/bjd.15893

Cited by 25 publications

(14 citation statements)

References 29 publications

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“…Osteoporosis or osteopenia are frequent in patients with erythropoietic protoporphyria (metabolic disease characterized by increased photosensitivity due to accumulation of protoporphyrin IX). Vitamin D deficiency and weight-bearing exercise correlates with low BMD was observed in these patients (Biewenga et al 2017). Thus, pathogenesis of bone deterioration in protoporphyria is most probably complex.…”

Section: Protoporphyriamentioning

confidence: 82%

Osteoporosis Complicating Some Inborn or Acquired Diseases

Žofková

Nemcikova²

2018

Physiol Res

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Osteoporosis in chronic diseases is very frequent and pathogenetically varied. It complicates the course of the underlying disease by the occurrence of fractures, which aggravate the quality of life and increase the mortality of patients from the underlying disease. The secondary deterioration of bone quality in chronic diseases, such as diabetes of type 1 and type 2 and/or other endocrine and metabolic disorders, as well as inflammatory diseases, including rheumatoid arthritis – are mostly associated with structural changes to collagen, altered bone turnover, increased cortical porosity and damage to the trabecular and cortical microarchitecture. Mechanisms of development of osteoporosis in some inborn or acquired disorders are discussed.

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Section: Protoporphyriamentioning

confidence: 82%

Osteoporosis Complicating Some Inborn or Acquired Diseases

Žofková

Nemcikova²

2018

Physiol Res

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“…The mainstay of management for EPP is avoidance of sunlight . Use of opaque sunscreens can reduce photosensitivity .…”

Section: Discussionmentioning

confidence: 99%

“…Use of opaque sunscreens can reduce photosensitivity . Sunlight avoidance puts those with EPP at risk of vitamin D deficiency (up to 50%), and supplementation should be given when necessary . EPP patients are also at increased risk of osteoporosis, with prevalence at 1.5 times the rate of the wider population .…”

Section: Discussionmentioning

confidence: 99%

Erythropoietic protoporphyria: A rare cause of painful hands and feet

Juengling

Boulter

Kava

2018

J Paediatrics Child Health

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A 12-year-old girl of Caucasian origin born to nonconsanguineous parents presented with a 7-year history of intermittent pain and paraesthesia in her hands and feet. The episodes started at the age of 5 years, occurring randomly, with five to six episodes a year of variable duration, lasting for up to 4 days. There had been a recent increase in the frequency of episodes. During the episodes, she had swelling of the hands and feet accompanied by burning and itching pain. More recent episodes were also associated with facial swelling, usually over the bridge of her nose. No trigger could be identified by the patient or her parents. The pain during the episodes was severe enough to prevent sleep and affect activities of daily living, including school attendance. There was no associated fever or systemic symptoms. There was no significant colour change of the peripheries to suggest erythromelalgia or Raynaud's phenomenon. She remained well in between episodes, with normal growth and development. Examination during an episode demonstrated non-pitting oedema of both hands with slight erythema (Fig. 1). Examination in between the episodes was unremarkable. The pain was not relieved with simple analgesia, and trials of naproxen, nifedipine, prednisolone and pregabalin did not decrease the frequency or severity of the episodes. Family history demonstrated Factor V Leiden deficiency in the patient's mother and maternal aunt.The patient was investigated for a range of potential underlying causes of peripheral paraesthesia, including vitamin deficiencies, type II diabetes mellitus, autoimmune diseases and several metabolic conditions including Fabry disease. She had normal full blood count, liver function, renal function, thyroid function, Creactive protein, erythrocyte sedimentation rate, complement levels (C3 and C4), vitamin B12, vitamin E, vitamin D, thrombophilia screen, glycosylated haemoglobin, urinalysis and metabolic urine. She had negative antinuclear antibody, anti-doublestranded DNA antibody, extractable nuclear antigens, anticardiolipin antibodies, beta-2-glycoprotein antibody and lupus anticoagulant. Alpha-galactosidase level was normal. Her ferritin was low, for which she was commenced on an iron supplement. Red blood cell porphyrin was raised at 33.0 μmol/L (normal range < 1.5 μmol/L), with a fluorescence scan positive at 636 nm, diagnostic for erythropoietic protoporphyria (EPP).

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“…In all types of cutaneous porphyria, avoidance of sunlight might contribute to vitamin D deficiency 58 , 59 and lower bone density. 60 It is highly recommended to monitor serum vitamin D status and treat with supplementations if needed.…”

Section: Cutaneous Porphyriasmentioning

confidence: 99%

Porphyria: What Is It and Who Should Be Evaluated?

Edel

Mamet

2018

Rambam Maimonides Med J

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The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive heme production is induced following exposure to a trigger. An acute attack usually presents with severe abdominal pain, vomiting, and tachycardia. Other symptoms which could appear include hypertension, hyponatremia, peripheral neuropathy, and mild mental symptoms. In severe attacks there could be severe symptoms including seizures and psychosis. If untreated, the attack might become very severe, affecting the peripheral, central, and autonomic nervous system, leading to paralysis, respiratory failure, hyponatremia, coma, and even death. From the biochemical point of view, acute attacks are involved with increased levels of precursors in the heme biosynthetic pathway, up to the deficient step. Of these precursors, aminolevulinic acid (ALA) is considered to be neurotoxic. Treatment is directed to reduce ALA production by reducing the activity of the enzyme aminolevulinate synthase (ALAS)—most effectively by heme therapy. Cutaneous symptoms are a consequence of elevated porphyrins in the blood stream. These porphyrins react to light; therefore sun-exposed areas are affected, producing fragile erosive skin lesions in porphyria cutanea tarda (PCT) or non-scarring stinging and burning symptoms in erythropoietic protoporphyria (EPP). Unlike the most common neurovisceral porphyria, acute intermittent porphyria (AIP), variegate porphyria (VP), and hereditary coproporphyria (HCP) can have cutaneous symptoms as well. Differentiating them from other cutaneous porphyrias is essential for accurate diagnosis, treatment, and patient recommendations.

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Osteoporosis in patients with erythropoietic protoporphyria

Abstract: The prevalence of osteoporosis and osteopenia is greatly increased in patients with EPP. Alkaline phosphatase (related to vitamin D deficiency) and amount of weight-bearing exercise are significantly correlated with low BMD in this population.

Cited by 25 publications

References 29 publications

Osteoporosis Complicating Some Inborn or Acquired Diseases

Osteoporosis Complicating Some Inborn or Acquired Diseases

Erythropoietic protoporphyria: A rare cause of painful hands and feet

Porphyria: What Is It and Who Should Be Evaluated?

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