Porphyria

The porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway (also called porphyrin pathway). They manifest with either neurological complications ("acute") or skin problems ("cutaneous"), or occasionally both. The porphyrias may be classified by the primary site of the overproduction and accumulation of the porphyrins (or their chemical precursors) as hepatic porphyrias, where porphyrins are overproduced in the liver predominantly, or erythropoietic porphyrias, where the overproduction is confined to the bone marrow and the erythrocye (red blood cell) and its precursors.

The acute, or hepatic, porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, muscle weakness, seizures, and mental disturbances, including hallucinations, depression, anxiety, and paranoia. Cardiac arrhythmias and tachycardia (high heart rate) may develop as the autonomic nervous system is affected. Pain can be severe and can, in some cases, be both acute and chronic in nature. Constipation is frequently present, as the nervous system of the gut is affected, but diarrhea can also occur.

Given the many presentations and the relatively low occurrence of porphyria, the patient 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 situations.

The cutaneous, or erythropoietic, porphyrias primarily affect the skin, causing photosensitivity (photodermatitis), blisters, necrosis of the skin and gums, itching, and swelling, and increased hair growth on areas such as the forehead. Often there is no abdominal pain, distinguishing it from other porphyrias.

In some forms of porphyria, accumulated heme precursors excreted in the urine may cause various changes in color, after exposure to sunlight, to a dark reddish or dark brown color. Even a purple hue or red urine may be seen.

Often, empirical treatment is required if the diagnostic suspicion of a porphyria is high since acute attacks can be fatal. A high-carbohydrate diet is typically recommended; in severe attacks, a glucose 10% infusion is commenced, which may aid in recovery. Pain is severe, frequently out of proportion to physical signs and often requires the use of opiates to reduce it to tolerable levels. Pain should be treated as early as medically possible, due to its severity. Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable. Hot water baths/showers may lessen nausea temporarily, though caution should be used to avoid burns or falls. Some liver diseases may cause porphyria even in the absence of genetic predisposition. These include hemochromatosis and hepatitis C. Treatment of iron overload may be required.

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Pica - Eating Disorder

The term Pica originates from the Latin word for magpie, a bird that is reputed because of their unusual eating behaviors where they are known to eat almost anything. It is characterized by an appetite for substances largely non-nutritive. For these actions to be considered Pica, they must persist for more than one month at an age where eating such objects is considered developmentally inappropriate. There are different variations of Pica, as it can be from a cultural tradition, acquired taste or a neurological mechanism such as an iron deficiency, or chemical imbalance. It can lead to intoxication in children which can result in an impairment in both physical and mental development.

In addition, it can also lead to surgical emergencies due to an intestinal obstruction as well as more subtle symptoms such as nutritional deficiencies and parasitosis. Stressors such as maternal deprivation, family issues, parental neglect, pregnancy, poverty, and a disorganized family structure are strongly linked to Pica.

This non-food cravings eating disorder can be found in 10 percent to 32 percent of children between the ages of 1 and 6, according to the National Library of Medicine. These youngsters will eat paint, plaster, string, hair, and cloth. Older children consume anything from animal droppings, sand, and insects to leaves, pebbles, and cigarette butts. Teens and adults most commonly eat clay or soil, though people have been found to ingest lead, laundry starch, plastic, pencil erasers, ice, fingernails, paper, coal, chalk, wood, plaster, light bulbs, needles, string, and wire.

Pica is more commonly seen in women and children, where it affects people of all ages in these subgroups. Particularly it is seen in pregnant women, small children, and those with developmental disabilities such as autism. For children with autism, suffering from Pica disorder has seemed to be even more dangerous. Children eating painted plaster containing lead may suffer brain damage from lead poisoning. There is a similar risk from eating dirt near roads that existed prior to the phaseout of tetra-ethyl lead in petrol (in some countries) or prior to the cessation of the use of contaminated oil to settle dust. In addition to poisoning, there is also a much greater risk of gastro-intestinal obstruction or tearing in the stomach. Another risk of dirt-eating is the possible ingestion of animal feces and accompanying parasites.

Certain tests can be a good start toward determining treatment, including hemoglobin to check for anemia, lead levels if paint or objects coated with lead paint have been consumed, and gastrointestinal tests to rule out infection in the case of soil or animal waste being ingested. As a first step, treatment should replace missing nutrients if applicable and address any other health issues. A multi-faceted approach including developmental, behavioral, and environmental therapy along with family education is often recommended. Sometimes treatment can succeed when the individual experiences negative consequences after eating a non-food substance, and then gets positive reinforcement for consuming proper food.

Ultimately the prognosis depends on a variety of factors. Pica may stop spontaneously in children and pregnant women, but can go on for years in people with mental and developmental disabilities unless treatment is sought. In the case of those with special needs, sometimes medication can be used to lessen the pica eating. Regardless of the root cause, seeking a doctor’s help is key to starting the road to recovery.

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