ALPHA- 1-ANTITRYPSIN DEFICIENCY (AIAT)

Introduction of the disease: - AIAT Deficiency is an inherited conformational disease, that can be fatal.

It commonly affects lungs (emphysema) and Liver (Cirrhosis and Hepatocellular cancer).

It can be present in homozygous or heterozygous forms.

AIAT is a glycoprotein and one of a family of serine protease inhibitors made in the liver that control inflammatory cascades. Deficiency is called a serpinopathy.

It makes up 90% of serum alpha-1globulin on electrophoresis.

AIAT Deficiency is the chief genetic cause of liver disease in children.

In adults, its lack is more likely to cause Emphysema.

GENETICS: - The gene for this autosomal recessive disorder is found on chromosome 14. Genetic variants are typed by electrophoretic mobility as medium, slow or very slow.

THE PATIENT: - Symptomatic patients usually have the PiZZ genotype, dyspnoea from emphysema, cirrhosis, cholestatic jaundice.

Cholestatis often remits in adolescence.

TESTS: -

• Serum alpha 1-antitrypsin levels decreased.
• Liver biopsy (p256) Periodic acid Schiff(PAS) ve; diastase resistant globules.
• Phenotyping by isoelectric focusing requires expertise to distinguish sz and zz phenotypes.
• Prenatal diagnosis is possible by DNA analysis of chronic villus samples obtained at 11-13 weeks of gestation.

MANAGEMENT: - Supportive medicinal treatment for emphysema and Liver Disease may be sufficient for some. One should quit smoking.

PROGNOSIS: - Some patients have life threatening symptoms in childhood, whereas other remain asymptomatic and healthy into old age. Worse prognosis if male, a smoker, or obese.

Emphysema is the cause of death in most, liver disease in approx. 5%.

HOMOEOPATHIC APPROACH OF TREATMENT OF ALPHA-1-ANTITRYPSIN DEFICIENCY AND EMPHYSEMA: -

1) Arsenicum album : - Great exhaustion after the slightest exertion. Anaemia and chlorosis. Reduces the refractive index of blood serum. Great anguish and restlessness.

2) Lobelia inflata :- Spends its force mainly upon the pneumogastric nerve,producing a depressed relaxed condition with oppression of the chest with impeded respiration. Dyspnoea from constriction of chest, worse any exertion. Sensation of pressure or weight in chest better by rapid walking.

3) Silicea :- Slow recovery after Pneumonia. Colds fail to yield, sputum persistently muco purulent and profuse.

4) Ipecac:- The chief action is on the ramifications of pneumogastric nerve, producing spasmodic irritation in the chest. Dyspnoea, constant constriction in the chest. BLEEDING from lungs with nausea, feeling of constriction. Hoarseness specially at the end of a cold. Complete aphonia