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Porphyric hemophilia, now known as porphyria, is a group of disorders that make it difficult to process porphyrins. Some are genetic, while others are acquired later in life. Symptoms include neurological and skin reactions. Treatment involves managing the condition, making dietary changes, and medication. The condition can affect people of all races, and historical figures may have had it, but it is impossible to verify. Clinicians must take extra care when evaluating patients with suspected cases.
Porphyric hemophilia is a family of disorders involving enzyme deficiencies that make it difficult to process heme precursors known as porphyrins. This term is actually obsolete, and the preferred word for these disorders is “porphyria,” as the conditions are unrelated to hemophilia, a bleeding disorder. Some of these disorders are genetic in nature, and people can inherit genes from their parents or develop spontaneous mutations that lead to some form of porphyric haemophilia. Others are acquired later in life.
In patients with porphyric hemophilia, the body cannot synthesize heme from porphyrins. He has other sources he can use for heme and usually cellular metabolism is not affected, but the patient experiences neurological symptoms due to accumulation of porphyrins. In the acute form of the disease, patients may experience nausea, tremors, convulsions, hallucinations and depression. Other patients have a skin version, where skin reactions cause bruising, blistering, and sensitivity to light.
Doctors can diagnose porphyric hemophilia by looking for telltale signs of the condition, such as high concentrations of porphyrins in urine and stool. These can cause waste products to take on a purplish tinge. Doctors may also look for chemical compounds related to enzyme deficiency or check for problems such as poor nerve conduction, indicative of nerve damage caused by porphyrin buildup.
The focus of treatment is on managing the condition. Making some dietary changes can help, usually by making the patient eat more carbohydrates. The patient may also benefit from medications. It is also necessary to treat individual symptoms. If a patient is having seizures, for example, antiepileptic drugs can reduce their intensity and frequency to keep the patient more comfortable. Patients may also need treatment for the mental illness associated with the condition, along with assistance to help them cope with neurological problems such as tremors or difficulty walking.
People of all races can develop hemophilia porphyria and the symptoms can sometimes be extreme. Some historians suggest that documented cases of neurological deficits associated with mental illness symptoms such as mania and paranoia may actually have been the result of porphyria. This retrospective diagnosis of historical figures is impossible to verify, as even if tissue samples were available, the telltale signs would be too degraded to find. In the case of modern patients, false negatives from improperly handled specimens are a known problem, and clinicians must take extra care when evaluating a patient with a suspected case of hemophilia porphyria to avoid missing diagnostic clues.
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