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Achalasia

Disease Details

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Description: Achalasia is a rare disorder of the esophagus, where the muscles fail to relax, causing difficulty in swallowing food and liquids.
Type: Achalasia is primarily a neurodegenerative disorder affecting the esophagus. It is generally considered idiopathic, meaning its exact cause is unknown, and it is typically not inherited in a straightforward Mendelian fashion. While there may be genetic predispositions in some cases, achalasia does not follow a specific type of genetic transmission. Most cases are sporadic, though some rare familial patterns have been observed.
Signs And Symptoms: The main symptoms of achalasia are dysphagia (difficulty in swallowing), regurgitation of undigested food, chest pain behind the sternum, and weight loss. Dysphagia tends to become progressively worse over time and to involve both fluids and solids. Some people may also experience coughing when lying in a horizontal position.
The chest pain experienced, also known as cardiospasm and non-cardiac chest pain can often be mistaken for a heart attack. It can be extremely painful in some patients. Food and liquid, including saliva, are retained in the esophagus and may be inhaled into the lungs (aspiration).
Untreated, mid-stage achalasia can fully obstruct the passage of almost any food or liquid – the greater surface area of the swallowed object often being more difficult to pass the LES/LOS (lower esophageal sphincter). At such a stage, upon swallowing food, it entirely remains in the esophagus, building up and stretching it to an extreme size in a phenomenon known as megaesophagus. If enough food builds up, it triggers a need to purge what was swallowed, often described as not being accompanied with nausea per se, but an intense and sometimes uncontrollable need to vomit what was built up in the esophagus that, due to the excessive stretching of the esophageal walls, is easily released without heaving. This cycle is so that little to practically no food reaches the small intestines to have its nutrients be absorbed into the bloodstream, leading to progressive weight loss, anorexia, eventual starvation, and death, the final of which may not always be listed as "death by achalasia", contributing to the already inaccurate or inconclusive count of deaths caused by the disease, not to mention the variable of other medical factors that could accelerate death of an achalasia patient's already weakened body.
Prognosis: Achalasia is a rare esophageal motility disorder. The prognosis for patients with achalasia varies depending on the timely diagnosis and effectiveness of treatment. While achalasia is considered a chronic condition without a definitive cure, various treatments can provide significant symptom relief and improve quality of life.

Treatments such as pneumatic dilation, surgical myotomy (Heller myotomy), and peroral endoscopic myotomy (POEM) can alleviate symptoms. Medications and botulinum toxin injections may also provide temporary relief. Most patients experience long-term improvement with proper management, though some may require repeated treatments.

While achalasia does not directly reduce life expectancy, complications like aspiration pneumonia, weight loss, and rarely esophageal cancer can occur if the condition is not managed effectively. Therefore, regular follow-up and monitoring are essential.
Onset: Achalasia typically has an insidious onset, with symptoms developing gradually over months to years. It most commonly appears between ages 25 and 60, but it can occur at any age. It has no direct link to nanotechnology or any nanoparticles.
Prevalence: The prevalence of achalasia is estimated to be about 1 in 10,000 people. However, this can vary slightly depending on the population studied.
Epidemiology: Incidence of achalasia has risen to approximately 1.6 per 100,000 in some populations. Disease affects mostly adults between ages 30s and 50s.
Intractability: Achalasia is generally considered a chronic and potentially intractable disease. While symptoms can be managed through treatments such as pneumatic dilation, surgical myotomy, or medications, there is currently no cure. Patients often require ongoing management to control symptoms and maintain quality of life.
Disease Severity: Achalasia is a chronic and progressively debilitating condition affecting the esophagus, characterized by the inability of the lower esophageal sphincter to relax, coupled with the loss of esophageal peristalsis. The severity of achalasia can vary widely among individuals, often classified into early and advanced stages based on symptoms and esophageal dilation. Symptoms typically include difficulty swallowing (dysphagia), regurgitation of food, chest pain, and weight loss. As the disease advances, the esophagus can become increasingly dilated and lose its ability to propel food toward the stomach effectively, leading to substantial impairment of quality of life.
Healthcare Professionals: Disease Ontology ID - DOID:9164
Pathophysiology: Achalasia is a rare esophageal motility disorder characterized by the inability of the lower esophageal sphincter (LES) to relax properly and the absence of normal esophageal peristalsis. The pathophysiology primarily involves degeneration of the myenteric plexus, resulting in loss of inhibitory neurons that release nitric oxide and vasoactive intestinal peptide (VIP). This neuronal damage leads to unopposed excitatory cholinergic stimulation, causing the LES to remain contracted and impairing the coordinated esophageal peristalsis necessary for food passage.

"Nan" is not applicable in this context. If you need additional information or a different aspect covered, please specify.
Carrier Status: Achalasia is not known to have a carrier status, as it is not a hereditary or genetic disorder that is passed down from parents to offspring. The exact cause of achalasia is still not well understood, but it involves the degeneration of nerve cells in the esophagus.
Mechanism: The cause of most cases of achalasia is unknown. LES pressure and relaxation are regulated by excitatory (e.g., acetylcholine, substance P) and inhibitory (e.g., nitric oxide, vasoactive intestinal peptide) neurotransmitters. People with achalasia lack noradrenergic, noncholinergic, inhibitory ganglion cells, causing an imbalance in excitatory and inhibitory neurotransmission. The result is a hypertensive nonrelaxed esophageal sphincter.Autopsy and myotomy specimens have, on histological examination, shown an inflammatory response consisting of CD3/CD8-positive cytotoxic T lymphocytes, variable numbers of eosinophils and mast cells, loss of ganglion cells, and neurofibrosis; these events appear to occur early in achalasia. Thus, it seems there is an autoimmune context to achalasia, most likely caused by viral triggers. Other studies suggest hereditary, neurodegenerative, genetic and infective contributions.
Treatment: Sublingual nifedipine significantly improves outcomes in 75% of people with mild or moderate disease. It was classically considered that surgical myotomy provided greater benefit than either botulinum toxin or dilation in those who fail medical management. However, a recent randomized controlled trial found pneumatic dilation to be non-inferior to laparoscopic Heller myotomy.
Compassionate Use Treatment: For achalasia, compassionate use and experimental treatments include:

1. **Peroral Endoscopic Myotomy (POEM):** An experimental endoscopic procedure where the inner muscle layer of the esophagus is selectively cut to relieve swallowing difficulties.

2. **Botulinum Toxin (Botox) Injections:** Occasionally used off-label to paralyze muscles to provide short-term relief of symptoms.

3. **Laparoscopic Heller Myotomy with or without Fundoplication:** Minimally invasive surgery where the lower esophageal sphincter is cut to allow passage of food, sometimes combined with fundoplication to prevent reflux.

4. **Tyrosine Kinase Inhibitors:** Investigational drugs targeting specific molecular pathways involved in muscular and nerve control in the esophagus.

Consult with a healthcare provider to discuss these and other potential treatment options tailored to individual cases.
Lifestyle Recommendations: For individuals with achalasia, lifestyle recommendations often focus on dietary adjustments and eating habits to help manage symptoms. These may include:

1. **Eat Smaller, More Frequent Meals**: Smaller portions can be easier to swallow and reduce discomfort.
2. **Chew Food Thoroughly**: Thorough chewing helps break down food, making it easier to pass through the esophagus.
3. **Eat Slowly**: Taking time to eat can prevent food from getting stuck in the esophagus.
4. **Drink Plenty of Water with Meals**: This can help wash down food and ease passage through the esophagus.
5. **Avoid Rapid Temperature Changes in Food**: Extreme hot or cold foods may aggravate symptoms.
6. **Avoid Foods That Are Difficult to Swallow**: Certain foods like bread, tough meats, and fibrous vegetables may be difficult to manage.
7. **Elevate the Head While Sleeping**: Using a wedge pillow or elevating the head of the bed can help reduce nighttime symptoms.
8. **Avoid Alcohol and Tobacco**: Both can irritate the esophagus and exacerbate symptoms.
9. **Maintain a Healthy Weight**: Excess weight can put additional pressure on the stomach and esophagus.

These lifestyle adjustments can complement medical or surgical treatments aimed at relieving the symptoms of achalasia.
Medication: Drugs that reduce LES pressure are useful. These include calcium channel blockers such as nifedipine and nitrates such as isosorbide dinitrate and nitroglycerin. However, many patients experience unpleasant side effects such as headache and swollen feet, and these medications often stop helping after several months.Botulinum toxin (Botox) may be injected into the lower esophageal sphincter to paralyze the muscles holding it shut. As in the case of cosmetic Botox, the effect is only temporary and lasts about 6 months. Botox injections cause scarring in the sphincter which may increase the difficulty of later Heller myotomy. This therapy is recommended only for patients who cannot risk surgery, such as elderly people in poor health. Pneumatic dilatation has a better long term effectiveness than botox.
Repurposable Drugs: Repurposable drugs for the treatment of achalasia include calcium channel blockers like nifedipine and nitrates such as isosorbide dinitrate. These medications help to relax the lower esophageal sphincter, providing symptomatic relief.
Metabolites: Achalasia is a rare esophageal motility disorder. It doesn't have specific metabolites directly associated with its diagnosis or progression. Instead, its diagnosis typically involves manometry, imaging studies like barium swallow, and endoscopy. Treatment focuses on relieving symptoms and may include pneumatic dilation, surgery (Heller myotomy), or medications such as nitrates and calcium channel blockers.
Nutraceuticals: There is currently limited evidence supporting the use of nutraceuticals for the treatment of achalasia. Achalasia is primarily managed through medical and surgical interventions such as pneumatic dilation, Heller myotomy, or peroral endoscopic myotomy (POEM), and pharmacological treatments like nitrates or calcium channel blockers can provide some symptom relief. Nutraceuticals have not been established as effective in clinical guidelines for this condition. It is crucial for patients to consult healthcare professionals for personalized management plans.
Peptides: Achalasia is a rare esophageal motility disorder where the lower esophageal sphincter (LES) fails to relax properly. This condition causes difficulty in swallowing, regurgitation, and sometimes chest pain. The exact cause is unknown, but it involves the degeneration of nerve cells in the esophagus.

Peptides: There is no direct relation between specific peptides and the primary treatment of achalasia. However, some peptide-based biomarkers might be researched for understanding the pathophysiology or guiding treatment, though this is not standard practice.

Nanotechnology (Nan): Research into the use of nanotechnology for achalasia is in its early stages. Potential applications might include targeted drug delivery systems to improve the effectiveness of treatments or nanomaterials for the development of new diagnostic tools, but these are not yet part of standard treatment protocols.