Rare Treatments

WHAT IS ADRENOCORTICAL CARCINOMA (ACC)? [1]

The adrenal glands sit just above the kidneys and produce hormones, including cortisol, aldosterone and male sex hormones. Tumours in these glands are common, but ACC is a rare aggressive form of cancer that grows in the outer part of the glands. The tumours in the adrenal glands cause too much of multiple types of hormone to be produced.

HOW COMMON IS ACC?

ACC is rare – there are only 0.7–2.0 new cases per million people each year. [2]

ACC can occur at any age, but it is more common in children younger than 10 years of age and in adults between 40 and 50 years. Women are more frequently affected than men.[3] Family history of certain inherited diseases and having certain genes can make it more likely you will develop ACC.[4]

WHAT ARE THE SYMPTOMS OF ACC?

Symptoms include excess hair growth on the face, chest and back.

As well as nausea/vomiting, muscle weakness, back and abdominal pain, passing water more often, weight gain/weight loss, high blood pressure, and high sugar levels.[1]

HOW IS ACC DIAGNOSED?

ACC can be difficult to diagnose, because the symptoms are also seen in more common diseases. [1]

The tests used to diagnose ACC depend on the patient’s symptoms, but usually begin with a simple check of the outward signs of the disease. These can include excess hair growth and high blood pressure. More extensive tests, such as measuring the hormone levels in the blood, imaging (including CT and MRI) and a microscopic examination of gland tissue are also carried out. These tests allow the doctor to see how far the tumour has developed and how best to treat the disease.

WHAT TREATMENT OPTIONS ARE THERE FOR ACC? [1]

Surgery to remove the affected adrenal gland is usually the first choice of treatment. Medicines, or radiotherapy, aim to reduce the risk of recurrence.

*The information in this summary is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care or insurance reimbursement.

References
1. https://www.cancer.gov/types/adrenocortical/patient/adrenocortical-treatment-pdq/
2. Fassnacht M et al. Eur J Endocrinol. 2018;179:G1–G46
3. Libe R et al. Front Cell Div Biol. 2015;3:45
4. Else T et al. Endocr Rev. 2014;35:282–326

WHAT IS CUSHING’S SYNDROME

Cushing’s syndrome is a rare condition that is caused by prolonged high levels of cortisol in the blood.[1]

Cortisol is produced in the adrenal glands, which lie just above each kidney. The pituitary gland in the brain sends signals to the adrenal glands to produce cortisol.[2]

Cortisol has many important functions in the body. It helps to control blood sugar levels and blood pressure and has a key role in maintaining normal metabolism.[1] However, too much cortisol can cause harmful effects.

Endogenous Cushing’s syndrome can be caused by the overproduction of cortisol due to tumours in the pituitary and adrenal glands.[2] However exogenous Cushing's syndrome is a side effect of taking steroids in high doses for a long time.[1]

WHAT ARE THE SYMPTOMS OF CUSHING’S SYNDROME?

Symptoms include weight gain, a build-up of fat on the back of the neck and shoulders. This is also known as a ‘buffalo hump’.[1]

Other symptoms include abdominal stretch marks, rounded (moon) face, depression, excess hair growth on the face, chest and back, changes to the menstrual cycle, and high blood pressure. [1]

HOW COMMON IS CUSHING’S SYNDROME?

Cushing’s syndrome caused by tumours in the pituitary or adrenal glands is rare.[1]

Each year, there are only 0.7–2.4 new cases per million. [1] It usually occurs in people over the age of 40 years and it affects four times as many women than men. [3]

How is Cushing’s syndrome diagnosed?

Cushing’s syndrome can be difficult to diagnose, because the symptoms are also seen in more common diseases.

Simple blood tests are used to measure cortisol levels in the blood. Magnetic resonance imaging (MRI) and computed tomography (CT) scans may also be used to confirm the diagnosis.[1]

HOW IS CUSHING'S SYNDROME TREATED?

Treatment aims to reduce cortisol levels and its effects.

This is commonly done by removing the tumour that is causing cortisol levels to rise. If this does not work, other options include radiotherapy, medical therapy and removing the adrenal glands.[1,4]
If you are a patient, please contact your physician for more information

*The information in this summary is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care or insurance reimbursement.

References
1. Sharma ST et al. Clin Epidemiol. 2015;7:281–293
2. Raff H, Carroll T. J Physiol. 2015;593:493–506
3. Valassi E et al. Eur J Endocrinol. 2011;165:383–392
4. Nieman LK et al. J Clin Endocrinol Metab. 2015;100:2807–2831

HEREDITARY ANGIOEDEMA

Hereditary angioedema is a disease that is located asymmetrically and can progress with swelling (edema) in our skin and internal organs without urticaria (hives). Instead of itching, the feeling of pain and tension is in the foreground. Hereditary angioedema occurs by mechanisms different from the development of allergic diseases. Hereditary angioedema occurs when the amount of "C1 inhibitor" in the blood is low or its function is impaired. In the absence of a C1 inhibitor or when it cannot function well, bradykinin, which is a very effective vasodilator, increases. Hereditary Angioedema is hereditary. While the C1 inhibitor level is low in the majority of the patients (type I), the C1 inhibitor is functionally inadequate in a few patients (type II). Although a new type (III) associated with Factor XII mutation has been defined in recent years, its mechanism has not been fully elucidated.

Angioedema can be acquired, especially in those with lymphoproliferative and malignant diseases at a later age, or in those who develop autoantibodies against C1 inhibitors. Angioedema may develop in association with angiotensin converting enzyme inhibitors (ACE-I), which are also used as antihypertensive drugs. In some patients who develop angioedema, the cause may not be fully demonstrated.

HEREDITARY ANGIOEDEMA  SIGNS AND SYMPTOMS

Hereditary Angioedema findings usually appear in the first years. Recurrent edema is usually more common in the face, lips, mouth, throat, trachea, hand-arm-leg, genital area. The frequency, severity, and affected organs of attacks may differ between patients. The attacks of patients with early symptoms may be more severe. In some patients, the severity of hereditary angioedema findings may increase during adolescence. In some patients, attacks can last for several days and go away on their own, even if untreated, in some patients they can be severe enough to require treatment in the emergency room. The severity of attacks can vary even in the same patient.

Hereditary Angioedema symptoms occur depending on the organs it affects. Abdominal pains without skin symptoms may complicate the diagnosis.

Swelling in different parts of our body (face, lips, mouth, throat, hands, arms, legs and genitals).

Abdominal pain (may be cramping)

Nausea and vomiting

Difficulty breathing (when the windpipe is blocked)

Edema in the upper respiratory tract can threaten your life.

Attacks may be more severe in the first and last periods of pregnancy.

DIAGNOSIS OF HEREDITARY ANGIOEDEMA

Hereditary angioedema can be easily differentiated from angioedema due to allergic causes, since it is recurrent, slowly developing, and has a long course, without itching. Unlike allergy-induced angioedema, patients with hereditary angioedema do not respond to allergy medications/syrups (antihistamines), cortisone medications (corticosteroids), and adrenaline. This feature in the history may be important for diagnosis.

Since it is a hereditary trait, other family members may also have the disease.

Laboratory tests are performed in suspected patients.

WITH BLOOD SAMPLE

Determination of C1 Inhibitor level and function

Complement 4 (C4) determination (can be used as a screening test. It is found to be low during and/or without attacks)

Diagnosis can be made with C1q level.

Diagnosis can be made by history. The greatest difficulty is that the diagnosis of Hereditary Angioedema is not brought to mind.

TREATMENT OF HEREDITARY ANGIOEDEMA

Antihistamines, corticosteroids and adrenaline have no effect on hereditary angioedema.

Treatment stages:

Protection

Treatment of attacks

Prevention of attacks (protective)

The most important step is to explain the precautions to the patients and their relatives. The factors that trigger the attacks should be explained in detail. The danger of pharyngeal interventions such as tracheal edema and tooth extraction should be clearly explained. It should be emphasized that some drugs can trigger attacks, especially birth control pills and estrogen-containing hormone preparations should be avoided. ACE inhibitors, which are drugs for hypertension, should not be used in these patients as they may trigger attacks. In addition, patients should be given an identifying card. The description of the disease and what to use in an emergency should be written on these cards.

Treatment of acute angioedema is carried out very quickly and to prevent the development of undesirable results.

Which patient should start long-term preventive treatment is a matter of debate. It can be said that patients with moderate-severe attacks whose quality of life deteriorates and especially those with respiratory tract attacks are candidates for this treatment, and this decision can be made by the physician following the patient.

It is necessary for patients to receive preventive treatment to prevent acute attacks before and/or during tooth extraction, surgical operation, or immediately after severe trauma.

* The information in this summary is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care or insurance reimbursement.

Reference: https://www.aid.org.tr/hastaliklar/alerji-ve-bagisiklik-sistemi-hastaliklari/herediter-anjioodem/ son erişim tarihi: 05/07/2021

1- WHAT IS MYELODYPLASTIC SYNDROME?

It is composed of the words myelodysplastic syndrome and dysplasia and is written as MDS for short. Myelodysplastic syndrome literally refers to white blood cells containing granules (small spots) found in the bone marrow or peripheral blood. Dysplasia refers to the abnormality of blood cells. In myelodysplastic syndrome, besides the failure of maturation of the blood cells made in the bone marrow, there is a different development in the blood cells in the bone marrow from the normal cells. As a result of the decrease in blood production in patients with MDS, there is a decrease in red blood cells (anemia) and a deterioration in the quality of blood cells, so these cells cannot function normally. In some subgroups evaluated in MDS, conversion to leukemia occurs.

Although MDS can be seen at almost any age, it is most common over the age of 40. The difference in bone marrow associated with MDS was first mentioned in 1950. The disease was started to be defined as myelodysplastic syndrome (MDS) by the French-American and British working groups in 1982.

2- WHAT IS THE CAUSE OF MDS?

The exact cause of MDS is unknown. The hereditary feature in the emergence of the disease is observed only in patients with Fanconi anemia, which is more common in children. In most of the patients, a cause related to the disease cannot be determined. There is a relationship between exposure to benzene, which is frequently used in the paint industry and shoemaking, and the disease. In addition, MDS may occur years after drugs or radiotherapy used to treat malignant diseases. However, MDS may develop during or after alcoholism, lead poisoning, use of tuberculosis drugs. However, it should not be forgotten that advanced age is also an important factor. It is known that more than half of the patients have a break or break in chromosomes 5, 7, 8, 11, 12 and 20. According to our current knowledge, there is no evidence that MDS is caused by bacteria or viruses. The disease is not contagious.

3- WHAT ARE THE COMPLAINTS OF PATIENTS WITH MYELODYPLASTIC SYNDROME?

Patients are generally in the advanced age group. Male patients get the disease more often than females. On average, the disease occurs in 22-45 out of 100,000 people a year. The most common complaint is fatigue, which is the main symptom of anemia. Fatigue is usually caused by prolonged walking or climbing stairs. It is often accompanied by shortness of breath and palpitations. Some patients may experience dizziness and lightheadedness, especially when standing up. Loss of hearing in the ears, especially chest pain when climbing a hill or walking and relieved by rest may occur. Arm and leg pain or numbness is natural. Some patients get infections easily. Infections are more common in the upper or lower respiratory tract. However, it can also occur in the skin or urinary tract. Sometimes, small foci of bleeding into the skin, from the size of a pin to the size of a lentil, not raised from the skin, may occur, especially in the arms or legs. Or easy bruising may occur. Rarely, patients with MDS may experience darkening of the urine and yellowing of the whites of the eyes as a result of the breakdown of blood cells. Joint pain may occur. Night sweats and fever may occur.

4- HOW IS MYELODYPLASTIC SYNDROME DIAGNOSED?

In the examination of the patient who applied to the doctor with the above complaints, there is pallor on the skin and lips. Some patients may have enlarged lymph nodes in the neck and armpits or in the groin. Enlargement of the liver or spleen may be detected. Small bleeding foci may be observed on the arms or legs. Patients with fever may have symptoms related to the site of infection. After these symptoms, a complete blood count analysis is performed. A decrease in red blood cells in complete blood count is present in almost all patients. A decrease in white blood cells and platelets (platelets) may also be observed. According to the World Health Organization (WHO) classification, an increase in the number of blood platelets can be seen in the newly defined 5q syndrome. After the blood taken from the fingertip is spread on a glass (environmental blood) and stained, information about blood cells is obtained by examining it under a microscope. Here, the number and appearance of red blood cells, white blood cells and platelets help the physician in making a diagnosis. A further examination to confirm the diagnosis is bone marrow aspiration and biopsy.

5- CAN MYELODYPLASTIC SYNDROME BE INTERFERED WITH OTHER DISEASES?

MDS can be confused with other diseases. One of these diseases is vitamin B12 deficiency. However, sometimes the differential diagnosis is important in cases where both B12 and iron deficiency are present together. Folic acid deficiency is very rarely confused with MDS. For this reason, iron deficiency and vitamin B12 deficiency are tried to be excluded in the diagnosis by measuring iron, vitamin B12, folic acid and ferritin levels in the serum.

6- HOS IS THE COURSE OF THE DISEASE

The course of the disease differs according to the disease subgroups defined in the classification. In cases with resistant anemia and sideroblasts, there is usually no abnormality other than anemia. These patients lead normal lives. In some, the symptoms are mild and may not require treatment. However, in MDS with increased blast, there is a risk of developing into acute leukemia. Many of these patients have an increased susceptibility to infections. Bleeding foci can be seen in different parts of the body, especially in the arms and legs. For this reason, these patients should go to the doctor regularly, have their check-ups and fully comply with the recommended treatments.

7- WHAT ARE THE TREATMENT OPTIONS IN MYELODYPLASTIC SYNDROME?

The treatment of these patients is closely related to the subgroup of MDS. First of all, the patient, the patient's relatives and the physician should be in full cooperation in deciding the treatment. In patients under the age of 55, stem cell transplantation from siblings or non-relatives with tissue compatibility can provide complete cure. However, undesirable side effects that may occur during stem cell transplantation with cells taken from someone else can be significant and life-threatening.

*The information in this summary is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care or insurance reimbursement.

Reference: https://www.thd.org.tr/thd_halk/?sayfa=miyelodis