Be very careful with a diagnosis of porphyria and Lupus. The rare co-existence of lupus and porphyria raises some very difficult diagnostic and treatment problems. The two diseases have many clinical signs in common, and treatment for lupus erythematosus with hydroxychloroquine (Plaquenil), for example, may trigger porphyria in susceptible patients. The association between the two diseases may simply be coincidental, or may reflect an undiscovered link.
A patient with systemic lupus erythematosus may present with malar rash, arthralgia, anaemia, anti-native DNA antibodies in the serum, and nephritis. These conditions may improve with treatment of corticosteroids and cyclophosphamide (for example). However, doctors may attribut any abdominal pain to lupus serositis or nephritis. If the patient develops any profound neurological symptoms, then the possibility of co-existing porphyria should be considered.
It is not known whether the association between porphyria and lupus erythematosus is purely coincidental, or whether it represents some common link. However, the association of these two diseases leads researchers and doctors to believe that these two conditions are somehow connected and that neither condition should be underestimated!
Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).
There are several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth.
Cutaneous porphyrias include:
*congenital erythropoietic porphyria,
* porphyria cutanea tarda.
Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, you may also experience muscle weakness, seizures, fever, and mental changes - such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed.
Acute porphyrias include:
*acute intermittent porphyria
*ALAD deficiency porphyria.
Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms.
Given the many presentations and the relatively uncommon occurrence of porphyria, often patients may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for Guillain-Barré syndrome, and porphyria testing is commonly recommended in those scenarios. Also, because Systemic lupus erythematosus features photosensitivity, pain attacks and shares various other symptoms with porphyria, one or the other diagnosis may be mistakenly made. It is also not uncommon to find that porphyria and Lupus can and do co-exist in the same patient!
Again.. it is important that neither condition should be underestimated as both can cause grave and sometimes fatal damage!
Peace and Blessings
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