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I was recently diagnosed with recurring Hemolytic crises (Bilirubin

Beantwortete Frage:

I was recently diagnosed with recurring Hemolytic crises (Bilirubin in urine etc). The reason is not yet known but there is some suggestion that Porphyria, G6PDH deficiency or any enzyme deficiency along the same pathway may be the cause,as I appear to have many of the symptoms (bad reactions to medication/anaesthetics, Neurological problems etc. etc.). This will shortly be tested.
At age 25 I was told that my jawbone had receded in parts by almost two thirds - I was tested and there were no bacteria, which could have caused this, present. The dentist advised me to consult a doctor as he "had not seen this even in an 80 year old woman and I must have some sort of metabolic illness". My doctor (at this time) reacted by asking me if I was homesick - at which point I left his office...
At age 35 I was diagnosed with Osteoporosis. Which brings me to my question - Is it possible that the problems I have had (and still have) with my bones and jawbone have a connection to the Hemolysis?
Gepostet: vor 8 Jahren.
Kategorie: Medizin
Experte:  Guests hat geantwortet vor 8 Jahren.

first of all Porphyria and G6PDH deficiency are both in most cases inhereted. So it would be interesting to know whether your parents oder grandparents have ever been diagnosed with such a disease. Testing for the suspected diseases is a routine procedure.
Porphyria and G6PDH deficiency can lead to many different symptoms including nausea, vomiting, severe colicky abdominal pain, red colored urin, pain in your extremities, neurological disorders. But osteoporosis is not an associated symptom.

Though the jawbone is often affected by osteoporis, it is very uncommen to get the disease in your age. So the question is what caused it? A chronic treatment with steroids (eg Prednisone) can lead to osteoporis. Or endocrine (hormonal) disorder can be the reason. I recommend strongly recommend that you consult an endocrinologist.

And finally, in order to answer your quesiton:

It is not very likely that there's a link between your recurrent hemolytic crises and the osteoporosis are linked with each other.

I hope this answer did help a little...
Kunde: hat geantwortet vor 8 Jahren.
Dear Dr.Gani
Thank you for your reply. Yes your answer was helpful!.
As regards XXXXX XXXXX you listed for Porphyria and G6PDH deficiency, during an "attack" I have experienced all of the symptoms you listed (plus irregularities in my blood pressure and "brain fog"..). No-one in my family has been diagnosed with either illness but both my maternal grandmother and my mother have had adverse reactions after operations (with all the above mentioned symptoms) but it has never been fully investigated.
As regards XXXXX XXXXX to consult an endocrinologist - I was examined by an endocrinologist several years ago and was diagnosed with reactive hypoglaecemia (spelling?). Apparently my insulin was high but the Glucagon very sluggish. My Blood sugar fell to 1.4.during the glucose tolerance test.
Recently however my Hb1Ac test was apparently suggestive of diabetes. Apart from this my Thyroid tests etc. were in order. I shall however talk to him again and tell him my concerns. Thanks once again.