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Understanding Acute Porphyria: Symptoms, Causes, and Diagnosis

Introduction

Acute porphyria is a metabolic disorder that is autosomal and dominant resulted from heme biosynthesis’s pathway, where the disorder takes place. This is caused by PBG-D (porphobilinogen desaminase) enzyme levels’ decrease. The characteristics of usual intermittent symptoms and signs include peripheral neuropathy, fever, tremor, sudoresis, tachycardia, incontinence or urinary retention, adynamic ileus, abdominal bloating, diarrhea or constipation, vomit, nausea, abdominal pain, psychiatric disorders and hydroelectrolitic (Anderson et al., 2005).

A case is presented in this paper, which is worthy of report. This is because of laboratory findings and clinical findings of the report in relation to the acute porphyria, which because of restriction in diet at bariatric surgery’s postoperative period has not been found in literature. The case is also included with the diagnosis and the treatment of the disease. Later in the paper, the biochemical and the immunological aspects are provided, followed by discussion.

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Case

A female white patient aged 31 years had been admitted in the Hospital lamada’s intensive care unit. Her condition was having respiratory distress and low consciousness level for past 12 hours. Seven days earlier she was admitted in the hospital with intense back pain and abdominal pain along with inappetence, vomiting, and nausea. She evolved in the ward with hallucinations, mental confusion and agitation. She presented at physical exam with presence of hydroaerial sounds, hypertension (180x100mmHg) with flaccid and bloated abdomen, tachypnea (36irpm) and tachycardia (136 bpm), dehydration (++/4+), diffusion of pain to deep and superficial palpation, with palpable rather than pulsatile, and in the hypogastrium there was painful mass. Along with the maintenance of muscle tone, proximal tetraparesis also existed along with plantar cutaneous flexion reflex, delayed tendinous reflexes, and mydriatic pupilas although it is photo-reactive and isochoric.

The patient had a history of bariatric surgery (intestinal by-pass with gastroplasty) about 21 days before that was devoid of intercurrence in the period of early postoperative without co-morbidity factors or other earlier history. After admission to the ICU, when there was vesical catheterization, dark red urine of 2000 ml could be obtained. In the view of the severity of the condition, the measures of support with volemic replacement and oxygen mask were undertaken. Then the laboratory test indicated severe hypomagnesemia (0.4 mEq/L) with hyponatremia (92 mEq/L), hypocalcaemia (0.86mmol/L) and hypophosphatemia (1.7 mg/dL).

Other exams like amylase, blood test, creatinine, potassium, thyroid and rheumatic functional studies had results that were normal. The hepatic transaminases’ serum level was increased discreetly. Urine was with cloudy aspect and dark yellow color, although without hematuria at urine test. There was slight increase of CRP (C-reactive protein). There was no change in the protein electrophoresis. The uroculture and hemoculture were found to be negative. The image exams (lumbar and abdomen spine had computation of tomography scan; abdominal ultrasound; intestinal, abdomen and chest transit; cranium’s nuclear magnetic resonance) were without alterations. The endoscopy of the high digestive tract showed ulcerated lesions being present in the efferent loop without any signs of bleeding. The hyponatremia correction started at 3 percent safety rate with respect to saline and normalization of sodium after 5 days.

evolution of serum sodium values

On the basis of clinical findings and the contemporary exams, the hypothesis was raised of suspected acute porphyria after three days of admitting to ICU. After this, the dosage of porphobilinogen and the delta aminnolevulinic acid was carried out in 24h urine considerable increase of both (porphobilinogen 4.25 mg/24h and delta aminnolevulinic acid: 15mg/24h). Once, there was conformation of the diagnosis, the beginning of the treatment commenced immediately with a diet that is carbohydrate rich. The gastrostomy’s enteral diet in continuous drip (in 20 hours, 60ml/h), high lipid content (113.28 g of lipids), hypoproteic (35.55 g of protein), hypercaloric (2370 calories) and carbohydrates rich (302.41 g). A carbohydrate (maltodextrin - 100% oligosaccharides) 72g/day module has the association of completing the recommendations recognized for AIP (300 to 400 g/day), with addition of carbohydrates to the tune of 374.41 g per day.

During this time, there was self-nourishment by the patient in small amounts taken orally that follows the protocol of nutritional guidance post gastroplasty. This is taken with sugar in reduced quantities for avoiding the dumping syndrome that has the inducement by the performance of intestinal bypass in the bariatric surgery.

A therapy of specificity with heme arginate or hematine could not find an initiation as obtaining those drugs from Brazil was difficult. The evolving of the patient with the clinical improvement taking place gradually, after the ICU was discharged, which was 15 days since she was admitted. During the time of the discharge, she was oriented, conscious, and without the signs of extrapontine myelynolisis or pontine. However, she was still with reduced strength of her muscles. There was no change in the nutritional conduct at the time when the patient was admitted in the intensive care. She was discharged after two weeks from the time she was admitted with the dietotherapy as follows: (a) orally: diet is bland with vitamins and non-acid fruit juice. Every 2 hours, semi skimmed milk was taken by the amount that the patient can tolerate with diminishing simple carbohydrate in avoiding dumping syndrome; (b) gastrostomy: diet would be hypercaloric and industrial, complete nutritionally, made to order and ready for use diet that is rich in high glycemic index of carbohydrates. The administering of it is by drip with intermittent gravity every 3 hours; although at night it is paused. There was continual nutritional follow up in the day care unit till the time when withdrawing nourishment is possible by ingestion of vitamin, protein, and calorie and gastrostomy tube required for clinical well being of the patient. The muscle strengths’ full recovery takes place 8 months following the acute event.

Biological aspects of the case

The diagnosis of porphyria generally takes place with biochemical analysis of stool, urine, and blood. The generally estimation of urine in relation to PBG (porphobilinogen) has been the first step of suspecting acute porphyria (Thadani et al., 2000). In the case, after the lady was admitted to the ICU of the hospital, vesical catheterization was conducted and outcome showed the dark red urine. Other aspects of biology in this case has been hyper or hypotension, arrhythmias, urine retention, constipation, vomit, and nausea. The case also represents the augment of urinary PBG.

The acute porphyria, in this case, first comes with its diagnosis in the time of the crisis, during the dosing of urine, of PBG and of 2mn ALA on the first day. The both quantities of excretion, during the crises, can be many times this value. Even when there are no crises, both value can be permitting the latent acute porphyria diagnosis in a kin’s next of bearer for symptomatic porphyria (Singal et al., 2013). PBG measurement deaminase the activity of pertaining HMB synthase or enzyme in red blood cells that is enough for confirming porphyria diagnosis.

Immunological aspect of the case

The immunological aspects include defects in enzymes. The defective enzyme’s substrate in patients is the step characterized by accumulation in the tissue such as, plasma and erythrocytes. The manifestation of the symptoms by the patient in this case after being admitted to the hospital, when separately analyzed, may have the mimicking effect on a number of diseases such as liver function test. The diagnosis, in this case, has been definitive with respect to the mutant gene with molecular genetic test. The detection capacity related to the mutant gene of more than 98 percent (Anderson et al., 2005).

The porphyrias are mostly inherited. The pattern of inheritance is dependent on the porphyria type. In this case, certain conditions are inherited in a pattern that is autosomally dominant. This indicates that the altered gene’s one copy is enough for causing the disorder. There is inheritance of other porphyrias in a pattern that is autosomal recessive (Cherem et al., 2005). This indicates that the gene’s two copies should undergo alteration for the patient so that she is affected by the condition.

The hypothesis of porphyria’s early diagnosis can be carried out if there is any family history of this disease or if the suspicion level is high (Cherem et al., 2005). The porphriya’s first step of diagnosis is during the dosing of urine, in the time of the crisis, of PBG and of 2mn ALA within a full day.

Discussion

Porphyria that is acute is related to a group having to the least eight distinctive genetic diseases. Additionally, these diseases have acquired forms which are termed as porphyrias. The occurance rate is estimated to be one to two persons per 100,000 persons. This is most frequently detected in European nations such as, Sweden, Ireland, and England. This disease also bears the psychiatric disease with the prevalence rate up to 1:500 (Onuki et al., 2002). Porphyria may cause acute symptoms, which can have risk of life if severe, although for short period of time. The porphyria, typically, takes place post puberty and is more common among women compared to men. The deficiency in enzymes, under normal conditions, is not enough in triggering crises. For inducing symptoms, there is need for other factors also. The deficiency bearers to the tune of 80 percent have been from the enzymatic activity that ceases to present any symptoms. There are others suffering from occasional and light symptoms (Onuki et al., 2002). An important role is also played by the environmental factors to unleash and coursing of this disease. There would be a number of drugs (hormones, antifungals, antibiotics, some sedatives, calcium channel blockers, anticonvulsants, and barbiturics) may be activating the symptoms along with large quantity of consumption of low carbohydrate and hypocaloric diets, tobacco or alcoholic drinks.

The stress that have resulted from infection, psychological or surgery, and another concomitant disease at times have involvement in the porphyries crisis’ genesis. One of the most characteristic symptoms is the abdominal pain and generally it is the earliest. It is often very intense and located diffusedly in the abdomen and to typical analgesics, it does not respond, which may be worsening the crisis when used (Tsao et al., 2010).

In this reported case, the patient showed all main symptoms and signs along with the most severe. The severity is with respiratory failure, arterial hypotension, severe hyponatremia, intense abdominal pain and psychiatric disorder (Tsao et al., 2010).

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Probably, the main crisis triggering factor was the hypocaloric diet, poor in carbohydrates, imposed by the surgery, but other factors such as drugs used prior to specific diagnosis may have contributed to aggravate the process (Cox, 1995).

It must be kept in mind that surgical procedures and many conditions entailing the restrictions of diet like intestinal surgeries and gastrectomies may be precipitating the porphyria crises which are under diagnosed. The conditions are paid attention to of abdominal pain in the time of crises that fails agreeing with the clinical picture expected for a specific postoperative and accompanying symptoms contributing for early diagnosis.

The crises’ treatment is comprised of reduction of vomit, nausea and pain with supposedly safe drugs and by interrupting the porphyniogeneic medication. This is consisting of tobacco and alcohol supplying glucose intake of high amount in a diet that is carbohydrate rich and glucose’s hypertonic infusion (Jeans et al., 1996). The support measures should be provided in the forms of ventilation support and hyper/hypotension that have been varying in accordance to the severity of the condition.

The preventing of the new crises is as essential as the treatment and diagnosis for the avoidance of complications. This purpose needs medical follow up along with simple steps such as avoidance of stress, physical activities that are strenuous, tobacco, alcohol, and porphyrinogenic drugs (Jeans et al., 1996). There is high risk for suicide, for which, it is recommended that the patient undergoes psychiatric treatment.

Conclusion

There should be inclusion of acute porphyria in the separate diagnosis of gastroenterological, psychiatric, and neurological alterations when there is normalcy of all other exams. The patients who undergo surgery should be given attention which, alongside the procedure of stress, which limit the intake of total calorie and potentially triggers the crises.

References

  1. Anderson, K. E., Bloomer, J. R., Bonkovsky, H. L., Kushner, J. P., Pierach, C. A., Pimstone, N. R. and Desnick, R. J. (2005) ‘Recommendations for the diagnosis and treatment of the acute porphyrias’, Ann Intern Med., 142(6):439-50.
  2. Cherem, J. H., Malagon, J. and Nellen, H. (2005) ‘Cimetidine and acute intermittent porphyria’,. Ann. Intern. Med., 143 (9): 694–5.
  3. Cox, A. M. (1995) ‘Porphyria and vampirism: another myth in the making’, Postgraduate Medical Journal, 71 (841): 643–644.
  4. Jeans, J. B., Savik, K., Gross, C. R., Weimer, M. K., Bossenmaier, I. C., Pierach, C. A., Bloomer, J. R. (1996) ‘Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series’, Am J Med Genet, 65(4):269-73.
  5. Onuki, J., Teixeira, P. C., Medeiros, M. H. G. and Di Mascio, P. (2002) ‘DNA damage induced by 5-aminolevulinic acid: a possible association with the development of hepatocellular carcinoma in acute intermittent porphyria patients’, Quím Nova., 25(4):594-608.
  6. Singal, A. K., Anderson, K. E., Pagon, R. A., Adam, M. P., Ardinger, H. H., Wallace, S. E., Amemiya, A., Bean, L. J. H., Bird, T. D., Dolan, C. R., Fong, C. T., Smith, R. J. H. and Stephens, K. (2013) ‘Variegate Porphyria’, GeneReviews, Seattle, USA: University of Washington.
  7. Thadani, H., Deacon, A. and Peters, T. (2000) ‘Diagnosis and management of porphyria’, BMJ., 320 (7250): 1647–1651.
  8. Tsao, Y. C., Niu, D. M., Chen, J. T., Lin, C. Y., Lin, Y. Y. and Liao, K. K. (2010) ‘Gabapentin reduces neurovisceral pain of porphyria’, Acta Neurol Taiwan, 19 (2): 112–5.

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