Schizophrenia

Schizophrenia is a complex mental disorder characterized by disintegration of clear thinking and emotional responses. It can manifest as paranoia, delusions, hallucinations and disorganized speech and thought. There is social dysfunction.

Symptoms of schizophrenia usually appear in teen years or early adulthood. They develop over a period of time before they take on a serious dimension. Symptoms of schizophrenia include irritability, insomnia, auditory hallucinations, bizarre behavior and attention deficit. Persons suffering schizophrenia often tend to feel suicidal. Paranoid schizophrenia manifests in anxiety that others are trying to harm you and your loved ones.

Schizophrenia is caused by genetic or neuro developmental defects. Developmental background also plays a role. Diagnosing Schizophrenia is not easy. Anti psychotic medications are prescribed for schizophrenia. They affect the balance of chemicals in the brain and can help control symptoms of schizophrenia. They might lead to side-effects such as weight gain, tremors, dizziness and sleepiness. Clozapine is prescribed to treat schizophrenia. The person suffering from schizophrenia must be aided in getting plenty of sleep and rest. Learn to manage stress better. Regular exercise also proves to be beneficial.

Porphyria

Porphyria refers to a group of rare genetic disorders that result from abnormalities in the heme biosynthesis pathway, leading to the accumulation of porphyrins or porphyrin precursors in the body. Heme is an essential component of hemoglobin, which carries oxygen in red blood cells.

Porphyria is caused due to disturbances in the metabolic pathways such as heme biosynthetic pathway. The organ affected by this disorder is purely dependent on the enzyme that is responsible for a certain biosynthetic pathway related to the organ. Abnormal forms of porphyrins are released which lead to various clinical manifestations. In many cases porphyria is inherited since it is associated with eight predominant forms of faulty genes which are responsible for neurological or cutaneous diseases.

Types of Porphyria

Porphyria is classified as acute and non-acute forms depending on its organ involvement and pathways affected. Acute Porphyria is more severe and involves neuromuscular discomfort, abdominal pain and also psychiatric complications. Porphyria is often difficult to diagnose because of its neurovisceral involvement which causes symptoms that appear in many other medical conditions. ALA dehydratase deficiency porphyria (ADP): The deficient enzyme that is found in this kind of disorder is the delta amino levulinic acid dehydratase. It is acquired as an autosomal recessive condition. ADP is very rare. Photosensitivity is one of the predominant factors associated. However, this symptom is usually followed by neuro visceral involvement.

Acute Intermittent Porphyria: This acute form of porphyria is caused by porphobilinogen deaminase and it is one of the most common forms of porphyria. It is predominant in females especially during puberty and post menopause. The clinical manifestations include excess urinary formation followed by excretion of precursors associated with porphyrin formation such as ALA and PBG.

Variegate Porphyria: It is caused by the deficiency of protoporphyrinogen oxidase. Most clinical manifestations pertaining to this acute form of porphyria is associated with cutaneous involvement leading to skin lesions.

Hereditary Coproporphyria

: It is caused due to the deficiency of the enzyme coproporphyrinogen oxidase. This form of porphyria is predominantly seen in hepatobilliary disease.

Acute Porphyria

: Acute porphyrias include acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALA dehydratase deficiency porphyria (ADP). These types primarily affect the nervous system and can cause acute attacks with symptoms such as severe abdominal pain, nausea, vomiting, constipation, muscle weakness, and neurological manifestations like peripheral neuropathy, seizures, and psychiatric disturbances. These attacks can be triggered by certain drugs, hormones, fasting, alcohol, and stress.

Cutaneous porphyria

: Cutaneous porphyrias include porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), congenital erythropoietic porphyria (CEP), and hepatoerythropoietic porphyria (HEP). Cutaneous porphyrias primarily affect the skin and may cause photosensitivity, blistering, skin fragility, and hyperpigmentation upon sun exposure. PCT is the most common type and is associated with liver dysfunction, iron overload, and hepatitis C infection.

Symptoms of Acute porphyria

Acute forms of porphyria are often fatal if ignored. Symptoms are severe abdominal pains, vomiting and nausea. In case of patients with a history of hypertension, cardiovascular problems might lead to instant death. Other key signs include muscular dystrophy, weakness, radiating pain in the back and extremities. Porphyria has close associations with many psychiatric conditions such as confusion, hallucination, paranoia and disoriented behavior.

Management and treatment of porphyria

Diagnosis of porphyria involves a combination of clinical evaluation, biochemical testing, and genetic analysis. Urinary and/or plasma levels of porphyrins, porphobilinogen, and delta-aminolevulinic acid (ALA) are measured to identify specific porphyria types. Genetic testing can confirm the specific genetic mutation causing the disorder.

Treatment of porphyria aims to manage symptoms, prevent attacks, and minimize complications. This may involve avoiding triggers such as certain medications and substances, maintaining a healthy diet, and managing pain and neurological symptoms. In some cases, intravenous heme therapy may be used to reduce porphyrin buildup and alleviate symptoms during acute attacks.

Overall, porphyria is a complex group of disorders requiring a multidisciplinary approach involving hematologists, geneticists, and dermatologists to diagnose, manage, and provide long-term care to affected individuals. Genetic counseling is also crucial for affected individuals and their families due to the hereditary nature of the disorder. The effective management of porphyria is often associated with the accuracy of diagnosis. This can be attained by the measurement of PBG in the urine. Care must be taken while collecting the specimen as the PBG when exposed for a long time to light can lead to the formation of dark red form of because of porphobilin.

Haem arginate administration has to be done carefully through a central line or through a large vein as it is an irritant to the vein. Post infusion, the vein is flushed with sodium chloride. Vein positions have to be changed on alternate days to avoid perivenous inflammations. Appropriate amount of calories have to be given to patients as malnutrition can aggravate the porphyria attacks. Cardiac patients have to be given beta-blockers to prevent tachycardia. Bacterial or viral infections have to be treated prior to the treatment with haem arginate.

Tranquilizer

Tranquilizers are medications that relieve anxiety and bring about a feeling of wellbeing. Tranquilizers tend to bring about sleep. They depress the nervous system thereby bringing about a calming feeling. They are not available over the counter and are to be bought on prescription only. Persons who regularly take tranquilizers experience lethargy, tremors, nausea, headache, appetite changes and menstrual irregularities. Regular use of tranquilizers can easily lead to dependence as tolerance develops rapidly. Side effects of overuse of tranquilizers are mental confusion, memory loss, difficulty in concentrating and addiction. Withdrawal symptoms of tranquilizers include rapid heartbeat, insomnia, irritability and anxiety.

Minor tranquilizers: These medications are commonly used to treat panic attacks, tension and insomnia. This type of medication is classified as anxiolytics or anti-anxiety agents. Examples of minor tranquilizers are Valium, Restoril, ProSom, Xanax and Ativan.

Major tranquilizers: This group of tranquilizers are neuroleptics and are frequently used before surgical procedures. Often these anti-psychotic drugs are prescribed for mental illnesses such as hallucinations, delusions and paranoia. They affect those receptors in the brain that are known to reduce psychotic thoughts, perceptions and agitation.