VISCEROMEGALY: OVERGROWTH, DIAGNOSIS, CAUSES - MEDICINE - 2024

The term visceromegaly, or organomegaly, refers to the continuous and pathological growth of one or more organs of the body. Some types of visceromegaly occur from diseases or infections that cause an organ to start to grow abnormally. In other cases, pathological growth occurs due to genetic problems and is part of complex syndromes.

On many occasions, when an organ grows uncontrollably, it loses the ability to perform its functions properly, which has serious repercussions on the patient's health. Of the conditions that cause this disorder, some are curable and others are only controlled through treating their symptoms.

From Hg6996 - Own work, Public Domain, The most frequent visceromegalies are cardiomegaly, which is the growth of the heart; splenomegaly, enlargement of the spleen; and macroglossia, which is the enlargement of the tongue.

The so-called overgrowth syndromes encompass a set of rare genetic conditions that have in common the abnormal growth of one or more organs of the body. These syndromes rarely cause whole-body overgrowth, but such cases have been reported.

Review that overgrowth syndromes considerably increase the risk of developing cancer.

Overgrowth

Growth is a physiological process in which internal and external factors intervene. Among the internal elements that promote it are the genetic or hereditary factor and the intervention of some hormones, such as human growth hormone, which accelerate or inhibit the ability of cells to divide.

By Ephert - Own work, CC BY-SA 4.0, When there are genetic mutations or hormonal problems that alter the physiology of growth, the uncontrolled and accelerated increase in the size of the body's organs can occur. This is known as overgrowth.

Growth alterations can be observed from the fetus and maintained throughout life. A patient is diagnosed with overgrowth when the measurement of his physiognomic characteristics is above normal for his age.

The overgrowth can be of the whole body or of one or more internal organs, this condition is known as visceromegaly.

Visceromegaly

Like overgrowth, visceromegaly is diagnosed by measuring the organ involved. Thus, it is evident that the size of the organ is above the normal average for the age and sex of the patient.

Visceromegaly is a clinical manifestation of complex syndromes that involve genetic and hormonal alterations. Abnormal growth of a viscera can also occur in response to a parasitic infection, such as Chagas disease, which causes an enlarged heart or cardiomegaly.

The organs most frequently affected in diseases associated with visceromegaly are: the liver, spleen, heart, and tongue. Conditions known as hepatomegaly, splenomegaly, cardiomegaly, and macroglossia, respectively.

- Diagnosis

The diagnostic approach begins with the questioning and physical examination of the patient. When the doctor can palpate the liver or spleen on physical exam, visceromegaly can be diagnosed as these are not normally palpable organs.

By James Heilman, MD - Own work, CC BY-SA 3.0, Imaging studies are used to make an accurate measurement of the organ, especially computerized axial tomography.

- Related diseases

Over the years, a large number of syndromes involving overgrowth and visceromegaly have been described. The most common are Beckwith-Wiedemann syndrome (SBW) and Sotos syndrome.

Beckwith-Wiedemann syndrome

SBW occurs due to a chromosomal alteration and accelerated growth can be observed from prenatal controls in the fetus. The most common clinical features are:

- Macroglossia, which is the enlargement of the tongue.

- Hemihyperplasia, which refers to accelerated asymmetric growth. One side of the body grows faster than the other.

- Kidney abnormalities and visceromegaly.

The visceromegalies in this syndrome involve one or more intra-abdominal organs such as the liver, spleen, kidneys, adrenal glands and / or pancreas.

One of the symptoms that is part of this syndrome is hypogicemia, and it is the cause of many of the complications that these types of patients present, including premature death.

Sotos syndrome

Sotos syndrome is a genetic disorder that prevents the formation of the protein histone methyltransferase, essential in the normal growth and development process.

It presents with abnormal body growth from birth that continues through adolescence. It has characteristics such as macrocephaly (larger than normal head circumference), hypertelorism (abnormal separation of the distance between the eyes), nephromegaly (enlarged kidneys), and hepatomegaly (abnormal liver growth).

In addition to the physiognomic signs, this syndrome is characterized by cognitive deficits, learning difficulties, autism and obsessive compulsive syndrome, among other psychological disorders.

Visceromegaly and cancer

Genetic visceromegaly occurs due to an alteration in a person's normal chromosomal pattern. This causes uncontrolled growth of the organs that occurs due to accelerated cell division.

During this cell division, mutations can occur that form malignant cells in the organ involved.

In syndromes that present with visceromegaly, the risk of developing some form of cancer is considerably higher than in the normal population.

From Haymanj - Own Photograph, Public Domain, The most common malignant tumors that occur due to abnormal growth of the viscera are: Wilms tumor and hepatoblastoma.

Wilms tumor or nephroblastoma, is a type of malignant kidney tumor that occurs in newborns due to genetic alterations that cause abnormal division of kidney cells.

For its part, hepatoblastoma is the most common malignant liver tumor in pediatric age. It is associated with genetic abnormalities, especially SBW.

Other causes of visceromegaly

In addition to the genetic disorders that cause overgrowth and visceromegaly, there are acquired diseases that cause the enlargement of a specific organ.

Chagas disease

Chagas disease or American trypanosomiasis is a parasitic disease transmitted by Trypanosoma cruzi. The infection can occur directly by contamination with stools of the carrier insect, the chipo, or it can occur indirectly by transplantation of infected organs, through contaminated food and from the pregnant woman to the fetus.

From Photo Credit: Content Providers (s): CDC / World Health Organization - This media comes from the Centers for Disease Control and Prevention's Public Health Image Library (PHIL), with identification number # 2538.Note: Not all PHIL images are public domain; be sure to check copyright status and credit authors and content providers., Public Domain, In its chronic stage, the infected patient presents with cardiomegaly, hepatomegaly, splenomegaly, megacolon and megaesophagus. These visceromegalies are a consequence of the infiltration by fibrous tissue caused by the parasite in the muscle and neurological fibers of these organs.

By Bobjgalindo - Own work, CC BY-SA 4.0, The enlargement of the heart chambers is the most dangerous complication of the disease and causes the heart to become inefficient in pumping blood. In addition, ineffective movements such as atrial fibrillation and extrasystoles may be evidenced.

Circulatory disorders and anemias

Diseases such as hemolytic anemia, congestion of the portal vein, chronic myeloid leukemia and lymphomas, present with an enlarged spleen or splenomegaly.

Metastatic cancer

The liver is one of the main metastasis receptor organs. Both metastatic and primary liver tumors cause liver enlargement or hepatomegaly.

References

1. Kamien, B; Ronan, A; Poke, G; Sinnerbrink, I; Baynam, G; Ward, M; Scott, RJ (2018). A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing. Molecular syndromology. Taken from: ncbi.nlm.nih.gov
2. Lacerda, L; Alves, U. D; Zanier, J. F; Machado, D. C; Camilo, G. B; Lopes, AJ (2014). Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations. Radiology research and practice. Taken from: ncbi.nlm.nih.gov
3. Shuman, C; Beckwith, JB; Weksberg, R. (2016). Beckwith-Wiedemann Syndrome. GeneReviews® Seattle (WA): University of Washington, Seattle. Taken from: ncbi.nlm.nih.gov
4. Sánchez, MJ; Tenorio, J; García-Miñaur, S; Santos-Simarro, F; Lapunzina, P. (2016). Syndromes of overgrowth and development of embryonic tumors: a review of our casuistry in the last 5 years. Annals of Pediatrics. Taken from: analesdepediatria.org
5. Nguyen, T; Waseem, M. (2019). Chagas Disease (American Trypanosomiasis). StatePearls. Treasure Island (FL). Taken from: ncbi.nlm.nih.gov
6. Vargas Viveros, Pablo; Hurtado Monroy, Rafael; Villalobos Alva, José Ángel. (2013). Splenomegaly Journal of the Faculty of Medicine (Mexico). Taken from: scielo.org